StemCell Therapy

The US Food and Drug Administration granted approval yesterday (December 14) for a genetically modified line of pigs that marks the first time a GM animal has been given the regulatory greenlight for both therapeutic development and food consumption, the agency says in a statement. The alteration knocks out alpha-gal, a sugar molecule on the surface of cells, and could help minimize allergic reactions to pork and reduce the risk of organ rejection in transplant patients.

The move represents a a tremendous milestone for scientific innovation, FDA Commissioner Stephen Hahn says in the statement. The FDA strongly supports advancing innovative animal biotechnology products that are safe for animals, safe for people, and achieve their intended results.

Pigs with the genetic modification are known as GalSafe pigs and are made by Revivicor Inc, a subsidiary of the US biotech United Therapeutics. Research in the mid-2010s indicated that the knockout made transplants from the pigs less likely to be rejected by primate recipients.

The director of the FDAs Center for Veterinary Medicine, Steven Solomon, told reporters in a conference call yesterday that developers who want to use GalSafe pigs for therapeutic purposes will still have to seek approval for their applications. I think that people need to be careful, Solomon said, STATreports. Thats why in part, its going to require further evaluation for xenotransplantation, xenograft, or the other activities by the medical products centers and FDA.

As far as food production is concerned, the statement notes that the meat is safe for consumption by the general population, adding that Revivicor intends to sell meat from GalSafe pigs by mail order, rather than in supermarkets.

The agencys evaluation also concluded that GalSafe pigs presented low risk to the environment, with an impact that is no greater than from conventional pigs. It adds that no animal safety concerns were noted for GalSafe pigs beyond those that would be expected in well-managed, commercial swine populations.

Multiple other efforts to develop genetically engineered pigs are underway around the world, including some alterations designed to make pigs grow faster, and others aimed at making the animals more resistant to lethal viruses such as porcine reproductive and respiratory syndrome virus (PRRSV).

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FDA Clears Genetic Modification in Pigs for Biomedicine and Food - The Scientist

CiBER-seq dissects genetic networks

Cells integrate environmental signals and internal states to dynamically control gene expression. Muller et al. developed a technique to dissect this cellular logic by linking targeted, genome-wide genetic perturbations with a deep-sequencing readout that quantitatively measured the expression phenotype induced by each perturbation. The method, dubbed CiBER-seq, was able to recapitulate known regulatory pathways linking protein synthesis with nutrient availability in budding yeast cells. Unexpectedly, the authors found that the cellular logic also appears to consider protein production machinery in this decision. By uncovering additional facets of this deeply conserved pathway, the findings demonstrate the utility of comprehensive and quantitative CiBER-seq profiling in mapping the gene networks underlying cellular decisions.

Science, this issue p. eabb9662

Systematically profiling the effects of genetic perturbations is a powerful approach that has revealed the molecular basis for a wide range of biological phenomena. The simple, programmable DNA recognition of CRISPR-Cas9 enables genome-wide genetic analysis in human cells and many other systems. Cas9 is guided by a short RNA to a complementary sequence in the genome, where it can introduce mutations or alter gene expression. Pooled libraries of guide RNAs (gRNAs) that individually target each gene in the genome allow us to introduce genetic perturbations systematically into a population of cells. A key challenge is measuring the phenotypic effects caused by individual guides in these pooled libraries and linking these phenotypes back to the associated gRNA, thereby finding the gene that is responsible.

Molecular phenotypes such as gene expression changes provide a clear and sensitive measure for many cellular processes. We sought a general approach to profile how the expression of a particular gene of interest changed when other genes were perturbed. We began with a library of gRNAs, each disrupting one gene, and linked these guides with an expression reporter containing a guide-specific nucleotide barcode. gRNAs that alter reporter expression will change the abundance of the expressed RNA barcode specifically associated with that guide. Deep sequencing of these expressed barcodes quantifies each of these guide-specific reporter expression effects individually within a pooled, complex population. We have implemented this strategy by combining CRISPR interference (CRISPRi) with barcoded expression reporter sequencing (CiBER-seq).

We used CiBER-seq to profile the responses of several yeast promoters tied to a range of biological functions. Each promoter yielded a distinct pattern of responses that could be understood in terms of its known function and regulation. For example, we rediscover the control of MET6 expression by regulatory ubiquitylation and connect the bud scar protein Cwp1 to other genes required for budding and cytokinesis. Our analysis of the HIS4 promoter, a well-characterized target of the integrated stress response, yielded a range of genetic perturbations that activate this pathway by causing the accumulation of uncharged transfer RNAs (tRNAs). We also uncovered a notable role for tRNA depletion in this response, as impaired tRNA biogenesis activated HIS4 expression through a distinct pathway. In order to understand this regulation, we carried out genetic interaction analysis and looked for quantitative deviations in CiBER-seq profiles caused by the introduction of a second genetic perturbation. We also developed an indirect CiBER-seq approach to measure translational and posttranslational regulation, which both play roles in the signaling pathways upstream of HIS4.

CiBER-seq produces comprehensive phenotypic profiles that offer insights into gene function and regulation. These high-throughput and quantitative phenotypic measurements are also well suited for the systematic measurement of genetic interactions, which contain rich information about the operation of biological processes. This approach can be applied to study a wide range of transcriptional, translational, and posttranslational regulatory responses, and it has the potential to shed light on many areas of biology.

CRISPR-Cas9 gRNA cassettes are linked with transcriptional reporters containing specific barcodes. The RNA-to-DNA ratio for each barcode, measured by deep sequencing, reveals the reporter expression phenotype induced by each gRNA.

To realize the promise of CRISPR-Cas9based genetics, approaches are needed to quantify a specific, molecular phenotype across genome-wide libraries of genetic perturbations. We addressed this challenge by profiling transcriptional, translational, and posttranslational reporters using CRISPR interference (CRISPRi) with barcoded expression reporter sequencing (CiBER-seq). Our barcoding approach allowed us to connect an entire library of guides to their individual phenotypic consequences using pooled sequencing. CiBER-seq profiling fully recapitulated the integrated stress response (ISR) pathway in yeast. Genetic perturbations causing uncharged transfer RNA (tRNA) accumulation activated ISR reporter transcription. Notably, tRNA insufficiency also activated the reporter, independent of the uncharged tRNA sensor. By uncovering alternate triggers for ISR activation, we illustrate how precise, comprehensive CiBER-seq profiling provides a powerful and broadly applicable tool for dissecting genetic networks.

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CiBER-seq dissects genetic networks by quantitative CRISPRi profiling of expression phenotypes - Science Magazine

Genetic Testing to Establish Strong Foothold in Current and Future Healthcare System

The notable rise in the demand for hereditary genetic testing over the past few years is one of the major factors that is expected to fuel the growth of the global genetic analysis services market in the upcoming decade. Technological advancements coupled with the drive to discover new and innovative genetic analysis techniques are set to shape the overall growth trajectory of the global genetic analysis services market during the forecast period. Over the past decade, the genome testing sector has witnessed consistent developments due to which, the global genetic analysis services market is anticipated to expand at an impressive rate during the assessment period.

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Hereditary genetic testing has emerged as ideal, and a rapidly evolving technology within the genetic analysis services market. This is likely to continue, owing to advancements in technology and findings of research activities. The increasing demand for improved and cutting-edge prediction and diagnostic tools and services coupled with surge in demand for disease monitoring is anticipated to play a key role in the overall growth of the global genetic analysis services market during the assessment period.

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Healthcare experts and credible researchers around the world are of the opinion that genetic testing is expected to be the future of the healthcare ecosystem. Advancements in the biomedical field coupled with the notable rise in the number of companies that are developing new genetic-testing kits are expected to augment the global genetic analysis services market during the forecast period. Moreover, as interest levels for precision medicine continues to witness sizeable growth around the world, as a result of which the demand for genetic analysis services is projected to grow at an impressive pace.

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Uptake of Next-generation Sequencing and Multi-gene Tests to Drive Market

Advancements in the genetic technology are likely to play an instrumental role in shaping the growth trajectory of the global genetic analysis services market during the forecast period. Furthermore, due to advancements in technology, the scope of genetic testing has widened by a considerable margin due to which, the demand for genetic analysis services is increasing. While genetic analysis services in the past were largely time-consuming and cumbersome, at present, increasing speed and availability of genomic testing are anticipated to present a plethora of opportunities to the players involved in the current market landscape for genetic analysis services.

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In addition, the gradual shift in the point of access to testing is evolving, as more number of consumers can avail genetic analysis services outside the healthcare setting. Advancements in genetic medicine at the back of advancements in technology are likely to bolster the growth of the global genetic analysis services market during the assessment period.

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Research and Development Activities in Full Swing amid COVID-19 Pandemic

Research and development activities are expected to continue in full swing amid the ongoing COVID-19 pandemic. The significant rise in the demand for genetic counseling services during the ongoing COVID-19 crisis is anticipated to generate consistent revenue for the players involved in the genetic analysis services market. Furthermore, researchers and scientists are increasingly focusing on discovering genetic mechanisms that are required to prevent the spread and transmission of the novel coronavirus disease. Genetic research is estimated to unlock various intricate details of the novel coronavirus, thereby opening up new opportunities for mitigation. The ongoing research pertaining to genetics and its correlation with the ongoing pandemic is expected to provide a detailed and microscopic understanding of the overall cellular mechanisms of the virus.

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Genetic Analysis Services Market: Uptake of Next-generation Sequencing and Multi-gene Tests to Drive Market - BioSpace

From phenotype to structure

Much insight has come from structures of macromolecular complexes determined by methods such as crystallography or cryoelectron microscopy. However, looking at transient complexes remains challenging, as does determining structures in the context of the cellular environment. Braberg et al. used an integrative approach in which they mapped the phenotypic profiles of a comprehensive set of mutants in a protein complex in the context of gene deletions or environmental perturbations (see the Perspective by Wang). By associating the similarity between phenotypic profiles with the distance between residues, they determined structures for the yeast histone H3-H4 complex, subunits Rpb1-Rpb2 of yeast RNA polymerase II, and subunits RpoB-RpoC of bacterial RNA polymerase. Comparison with known structures shows that the accuracy is comparable to structures determined based on chemical cross-links.

Science, this issue p. eaaz4910; see also p. 1269

Determining the structures of protein complexes is crucial for understanding cellular functions. Here, we describe an integrative structure determination approach that relies on in vivo quantitative measurements of genetic interactions. Genetic interactions report on how the effect of one mutation is altered by the presence of a second mutation and have proven effective for identifying groups of genes or residues that function in the same pathway. The point mutant epistatic miniarray profile (pE-MAP) platform allows for rapid measurement of genetic interactions between sets of point mutations and deletion libraries. A pE-MAP is made up of phenotypic profiles, each of which contains all genetic interactions between a single point mutant and the entire deletion library.

We observe a statistical association between the distance spanned by two mutated residues in a protein complex and the similarity of their phenotypic profiles (phenotypic similarity) in a pE-MAP. This observation is in agreement with the expectation that mutations within the same functional region (e.g., active, allosteric, and binding sites) are likely to share more similar phenotypes than those that are distant in space. Here, we explore how to use these associations for determining in vivo structures of protein complexes using integrative modeling.

We generated a large pE-MAP by crossing 350 mutations in yeast histones H3 and H4 against 1370 gene deletions (or hypomorphic alleles of essential genes). The phenotypic similarities were then used to generate spatial restraints for integrative modeling of the H3-H4 complex structure. The resulting ensemble of H3-H4 configurations is accurate and precise, as evidenced by its close similarity to the crystal structure. This finding indicates the utility of the pE-MAP data for integrative structure determination. Furthermore, we show that the pE-MAP provides a wealth of biological insight into the function of the nucleosome and can connect individual histone residues and regions to associated complexes and processes. For example, we observe very high phenotypic similarities between modifiable histone residues and their cognate enzymes, such as H3K4 and COMPASS, or H3K36 and members of the Set2 pathway. Furthermore, the pE-MAP reveals several residues involved in DNA repair and others that function in cryptic transcription.

We demonstrate that the approach is transferable to other complexes and other types of phenotypic profiles by determining the structures of two complexes of known structure: (i) subunits Rpb1 and Rpb2 of yeast RNA polymerase II, using a pE-MAP of 53 point mutants crossed against 1200 deletions and hypomorphic alleles; and (ii) subunits RpoB and RpoC of bacterial RNA polymerase, using a chemical genetics map of 44 point mutants subjected to 83 environmental stresses. The accuracy and precision of the models are comparable to those based on chemical cross-linking, which is commonly used to determine protein complex structures. Moreover, the accuracy and precision improve when using pE-MAP and cross-linking data together, indicating complementarity between these methods and demonstrating a premise of integrative structure determination.

We show that the architectures of protein complexes can be determined using quantitative genetic interaction maps. Because pE-MAPs contain purely phenotypic measurements, collected in living cells, they generate spatial restraints that are orthogonal to other commonly used data for integrative modeling. The pE-MAP data may also enable the characterization of complexes that are difficult to isolate and purify, or those that are only transiently stable. Recent advances in CRISPR-Cas9 genome editing provide a means for extending our platform to human cells, allowing for identification and characterization of functionally relevant structural changes that take place in disease alleles. Expanding this analysis to look at structural changes in host-pathogen complexes and how they affect infection will also be feasible by introducing specific mutations into the pathogenic genome and studying the phenotypic consequences using genetic interaction profiling of relevant host genes.

pE-MAPs are generated by measuring the growth of yeast colonies (left) and visualized as a heatmap (background). We present an application of pE-MAPs to determine protein complex structures, using integrative modeling, and apply it to histones H3 and H4 (right) and other complexes. H3 (purple) and H4 (teal) are highlighted in the context of the nucleosome [gray, modified Protein Data Bank (PDB) 1ID3].

Determining structures of protein complexes is crucial for understanding cellular functions. Here, we describe an integrative structure determination approach that relies on in vivo measurements of genetic interactions. We construct phenotypic profiles for point mutations crossed against gene deletions or exposed to environmental perturbations, followed by converting similarities between two profiles into an upper bound on the distance between the mutated residues. We determine the structure of the yeast histone H3-H4 complex based on ~500,000 genetic interactions of 350 mutants. We then apply the method to subunits Rpb1-Rpb2 of yeast RNA polymerase II and subunits RpoB-RpoC of bacterial RNA polymerase. The accuracy is comparable to that based on chemical cross-links; using restraints from both genetic interactions and cross-links further improves model accuracy and precision. The approach provides an efficient means to augment integrative structure determination with in vivo observations.

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Genetic interaction mapping informs integrative structure determination of protein complexes - Science Magazine

Otto von Habsburg never got to be emperor. Born in 1912, he watched as his familys grasp on political power slipped, and the dynasty that once dominated central Europe and beyond became just another surname that whispered of a greater history. A vocal participant in Europes postwar politics, he couldnt forget the legacy hed been born into: once, on being asked if he planned to watch an Austria-Hungary football match, he is said to have responded Perhaps who are we playing?

Otto, who spoke seven languages and whose heart was buried in Hungary while the rest of him reposed in Austria, was among the last of a line that can be traced at least to the 10th century, to the first Habsburg we can speak of with any certainty: Kanzelin (or possibly Lanzelin) of Altenburg, a small-time magnate in what today is Switzerland. Martyn Radys panoramic history narrates how Kanzelin and his descendants made money, territorial gains and enemies: the monks of a monastery they themselves had founded spread the idea that the earliest Habsburgs were no more than robber barons.

The family took their name from the Habichtsburg or Hawks Castle, from which heartlands they fitfully expanded their influence, until by the 15th century they were rulers of the Holy Roman empire, a great patchwork of princedoms and territories and the premier power in Europe next to France. Charles V, who became King of Spain in 1516 and was elected emperor in 1519, had as his motto plus ultra, meaning still further. In the 16th and 17th centuries Habsburg power spread across the globe, with the dynasty establishing a presence in sites from Brazil, Mexico and Peru to Goa, the Philippines and Taiwan, at the same time as their forces fought for dominance against those of the Ottoman sultans to the east. In 1700 Habsburg power came to an end in Spain and its associated territories, but the central European branch of the family would remain a pre-eminent force for two centuries yet.

The Habsburgs are often remembered for their dogged insistence on keeping power within the family. Between the 15th and the 18th century, the family branches assiduously married their young off to each other (after receiving papal permission for these incestuous unions). Rady notes that between 1450 and 1750, there were four uncle-niece marriages, 11 marriages between first cousins, four marriages between first cousins-once-removed, eight between second cousins, and many other marriages with more remote kinship. This genetic feedback loop contributed to a high incidence of mental illness, epilepsy, birth defects and other illnesses among Habsburg children, as well as the notorious Habsburg jaw, which even sympathetic portraitists struggled to conceal.

In telling a family history that spans a thousand years and almost every continent, Rady sets himself an almost impossible task. The Mbius strip of their family tree and the extent and variety of the lands and peoples they ruled over make writing any Habsburg history a kind of choose-your-own-adventure exercise, where the historians own interests and expertise will always shape the broader story. The backbone of Radys narrative is a fairly traditional chronological account, sketching the character of rulers and reigns since the end of the 10th century. Some chapters pause the action, leaving high politics to one side to allow time to discuss cultural and social questions, from the Peruvian baroque to an early 18th-century Serbian vampire craze. The effect is that of a well-polished lecture course, offering a digestible narrative of the familys rise and fall, leavened with some material that sets the central political story in its wider context. Whats missing is a sustained sense of what life was like for the millions who lived under the Habsburgs: how their wars, reforms, assassinations, and peccadilloes made themselves felt (when they did) among their subjects. What did the Habsburg story mean to those they ruled over?

Maybe its natural that historians would struggle to pin down the experience of life under the Habsburgs, since the breadth and sprawl of their lands meant that they themselves often felt as if they reigned over a paper empire. Great swathes of their lands would not see a rulers physical presence for decades or centuries, but a great central mechanism of chanceries, secretaries and civil servants toiled to record and regulate affairs. In the earliest days of the dynasty, they bolstered their power by drawing up histories and genealogies that boasted of their noble origins. When a little more was needed, they werent above faking the necessary evidence: in the 14th century, Rudolf of Habsburg had his scribes draw up fake charters that helped seal his familys claims to political power and regional control. Their paper empire would only grow, with Philip II of Spain a 16th-century royal micromanager who tried in vain to follow a global empire from his desk in Madrid. By the 1850s, about 50,000 civil servants came to work every day to track and tweak the operations of empire in a bewildering variety of languages.

From 19th-century censored texts to the royal propaganda of 400 years previously, Rady has managed to make sense of an empire and its archives in a way that its own rulers often struggled to. A real strength of this account is its attention to Habsburg stories outside Europe, from attempts to meddle in the 17th-century kingdom of Kongo, and the brief period in which emperor Franz Joseph became the colonial ruler of the Chinese port of Tianjin, to the role of Austrian ships in transporting hundreds of thousands of enslaved Africans into the eastern Mediterranean and beyond in the 19th century.

But all glory fades and when it did, the Habsburgs were a family who knew how to die. The posthumous journey of Otto von Habsburgs heart was part of a family tradition: from 1619 onwards, Habsburg rulers bodies would be divided in three, with the heart going to the Loreto chapel of the Augustinian church in Vienna, and much of the rest of the body going to the crypt of the nearby Capuchin church, while the citys imposing Stephansdom housed a growing collection of Habsburg intestines deep in its own sacred bowels. Their death throes were felt around the world, with early modern royal deaths plunging communities from Madrid to Mexico City into mourning, and inspiring the construction of towering catafalques which memorialised dead monarchs and their achievements.

Grief and loss were a part of the Habsburg experience, not least for the emperor Franz Joseph, who lost his son Rudolf to suicide, his wife Sisi to assassination by an Italian anarchist, and his brother, Maximilian, at the hands of a Mexican firing squad after four years as the countrys unlikely emperor he died with the words Viva Mexico! Viva independencia! on his lips. Maximilians nephew, the Archduke Franz Ferdinand, would be gunned down in Sarajevo in 1914: the dynastys dying days had begun. When the last emperor, Karl I, was ushered out of Viennas Schnbrunn Palace by the socialist leader Karl Renner, it was with the words: Herr Habsburg the taxi is waiting.

The Habsburgs: The Rise and Fall of a World Power is published by Allen Lane (30). To order a copy go to guardianbookshop.com. Delivery charges may apply.

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The Habsburgs by Martyn Rady review negative genetic feedback loop - The Guardian

The 1997 science fiction film Gattaca is set in a dystopic future in which the practice of eugenics selective breeding designed to pass on desired genetic traits is the norm.

In this society, couples who want to have children pursue technological reproduction rather than natural procreation. This allows them to pick which of their embryonic children they want to bear after surveying their genomes.

The moral imperative is for parents to conceive and bear the best possible child, not only with preferred physical traits or predispositions for particular talents, but also free from hereditary disease and disability.

To roll the dice and welcome whatever child you get is seen as irresponsible: Not only would you be knowingly disadvantaging your child, you would also be risking reintroducing undesirable genes back into the gene pool.

Sadly, what was science fiction just a few years ago has become a reality.

In the cover story of the December issue of The Atlantic, reporter Sarah Zhang visits Denmark, a country considered moral pioneers in the field of prenatal genetic testing, diagnosis, and decision-making.

In her conversations with families and experts, Zhang uncovers a devastating trend: more than 95% of pregnancies that have a test result showing a likelihood of Trisomy 21, known more commonly as Down syndrome, end in abortion. The phenomenon of selective abortion is gaining traction despite the fact that some results are false positives, and the fact that persons with Trisomy 21 have excellent survival rates and life expectancies.

Persons with Trisomy 21 have varying symptoms (and varying degrees of severity of symptoms), including intellectual disabilities and muscular-skeletal issues. They are more susceptible to heart problems, gastrointestinal abnormalities, and speech issues. Severe cases require significant intervention, therapy, and resources.

Yet others with Down syndrome go to college, find employment, live independently, and get married. Just like any person, their particular challenges and strengths become evident over time, in part due to their genetic makeup as well as the environment in which they develop.

Within hours of the 8,000-word articles publication online, some were praising Zhangs reporting for humanizing and giving a voice to people with Down syndrome. Others, including pro-lifers, expressed outrage: For instance, one writer at The Federalist accused the author of seeking to create sympathy and understanding for eugenics and a modern-day genocide.

But beyond the pieces implications for the pro-life and pro-choice movements, Zhang identifies an uncomfortable, telling paradox one that signals the dawn of what has been called the genetic information age. She writes:

In wealthy countries, it seems to be at once the best and the worst time for Down syndrome. Better health care has more than doubled life expectancy. Better access to education means most children with Down syndrome will learn to read and write. Few people speak publicly about wanting to eliminate Down syndrome. Yet individual choices are adding up to something very close to that.

Put in other words, the article is an invitation for the world to ask itself: How can a society that celebrates diversity, inclusion, and tolerance allow its members who have genetic differences to be systematically, surgically extracted from its population?

During an amniocentesis, a doctor punctures the abdominal wall of a pregnant woman to withdraw the fluid. The fluid is then analyzed for various chromosomal abnormalities. Today, that information can be gleaned from a mothers blood sample by the 10th week of pregnancy. (Shutterstock)

Three overlapping factors have created new moral questions around child-bearing: 1) reproductive technologies, originally designed to assist couples struggling with infertility, have proliferated in type and availability; 2) the project to map the human genome, completed in 2003, has given scientists and doctors a window into the genes of their patients as well as their patients gametes; and 3) prenatal genetic testing has become a routine part of obstetric care.

While originally developed to assist couples who were unable to conceive children through natural procreation, artificial reproductive technologies (ART) now comprise a booming fertility industry. Services like in vitro fertilization are now cheaper, less riskier to women, and more likely to be covered by insurance and thus more widely available.

Because marriage and child-bearing are increasingly delayed in wealthier nations, both infertility and the risk of chromosomal abnormalities are on the rise. This makes in vitro fertilization, now paired with genetic testing, a more desirable method of reproduction: From a consumer standpoint, getting the healthiest possible child is the best investment in terms of time, cost, and risk.

But even if a woman gets pregnant naturally, she is likely to be offered prenatal screening for major chromosomal abnormalities. In the U.S., prenatal testing was generally offered to women over 35 or those with high-risk pregnancies. As of 2019, more than 60% of OBGYNs had offered it as part of their standard care to all patients.

In Denmark, nearly all pregnant women choose to have their developing children screened for genetic abnormalities.

Prenatal testing used to be done later in the second trimester if an ultrasound revealed atypical development, or if parents knew they were carriers for genetic conditions. Today, that information as well as the sex of the baby can be gleaned from a mothers blood sample by the 10th week of pregnancy.

Genetic counselors are supposed to present findings with value neutrality, meaning their language and affect is not supposed to sway patients decision-making. But Zhang spoke to advocates for persons with Down syndrome who were actively lobbying health care providers to change their language, for fear that the increase in selective abortion was correlated to language that increased parental fear.

Even shifting language from risk to probability could help open parents up to choosing life, they argued.

In many of the cases Zhang learned about, the children were originally wanted sometimes desperately so but in one catastrophic moment, they became unwanted. Parental fears about their childs quality of life as well as disappointment over losing the family that they had hoped for swayed them toward abortion.

Suddenly, Zhang writes, a new power was thrust into the hands of ordinary people the power to decide what kind of life is worth bringing into the world.

The world that The Atlantic article describes is one shaped by what Notre Dame law and political science professor O. Carter Snead calls expressive individualism in his new book What It Means to Be Human: The Case for the Body in Public Bioethics (Harvard University Press, $39.95).

This philosophy equates being fully human with finding the unique truth within ourselves and freely constructing our individual lives to reflect it, writes Snead. It considers human relationships as transactional, formed by agreements, promises, and consent for the mutual benefits of the parties involved.

Such a philosophy, he argues, leaves us without a coherent vision of our moral obligations to one another, especially the most vulnerable. This is illustrated in Zhangs piece by a series of moral quandaries that selective abortion poses.

Pope Francis kisses Peter Lombardi, 12, of Columbus, Ohio, after the boy rode in the popemobile during his general audience in St. Peter's Square at the Vatican in 2018. (Catholic News Service/Vatican Media)

If reproductive decision-making is an individual choice, what should a society do when thousands (or millions) of individual choices result in massive demographic or sociological changes?

Is a eugenic movement brought about by a societys own choosing any less problematic than one which is forced on a people, such as the campaign to eradicate persons with disabilities designed by the Nazis or the current campaign by the Chinese government to eliminate its Uyghurs population?

Zhang uncovers what she calls the most perverse moral problem in an exchange with a Danish woman who heads the National Down Syndrome Association. The woman, who is also a mother to 18-year-old son with Down syndrome, educates expectant parents about the condition.

During one of their conversations, the teenage boy leans over and looks at his mothers phone. The title of a controversial documentary called Death to Down Syndrome was displayed on the screen, and he immediately recoiled.

The reporter realized that he was cognizant of the fact that there are people who dont want people like him to be born. Moreover, his mother supports the right to abortion, even in cases like his.

The scene illustrates the ultimate conundrum for a society that supports the unrestricted right to abortion while claiming to uphold the equality of all human beings as a foundational moral principle: A woman must convince her child that his life is valuable, dignified, and worthy of living, while also supporting the rights of others to end the life of their child with his same genetic markers.

The response of a Catholic reader to the article would seem clear-cut: Because abortion is the taking of human life in its most vulnerable stage, it violates the fundamental right of all human beings to continue their life until natural death. Abortion, as well as any reproductive technology involving the creation, testing, and destruction of embryos, must be rejected.

But Catholic teaching does not stop at the moral evaluation of the technology or the act of abortion. The Gospel goes deeper it speaks to the heart of parents who receive a devastating diagnosis. It speaks to the vocation of health care workers and geneticists to heal when they can and offer comfort when they cannot. And it speaks to families about what it means to be open to the mystery of Gods design for family life.

In a 2019 speech, Pope Francis lamented the fact that thanks to modern prenatal testing techniques, even the suspicion of an illness, and especially the certainty of a disease, changes the experience of pregnancy and causes deep distress to women and couples.

The isolation and worry about the suffering that lies ahead, the pope said, is like a silent cry, a call for help in the darkness, when faced with an illness whose outcome cannot be foreseen with certainty.

In the face of fear and isolation, parents need support from a larger community, whether through their extended family, the parish, or others who have been in their situation. Support from a community is the first antidote to the individualism and isolation of reproductive choice.

When it comes to the issue of medical language, The Atlantic article notes that while genetic counselors and obstetricians are trained and required to present genetic information in as neutral a way as possible to patients, that doesnt always happen.

Pope Francis has admonished clinicians who use the phrase incompatible with life to describe genetic conditions that correspond with short lifespans or severe physical and cognitive impairments. For one thing, where there is a living human being, there is life.

Second, he says:

No human being can ever be unfit for life, whether due to age, state of health or quality of existence. Every child who appears in a womans womb is a gift that changes a familys history, the life of fathers and mothers, grandparents and of brothers and sisters. That child needs to be welcomed, loved and nurtured.

The fact that so many parents, when faced with a diagnosis of Down syndrome or other genetic anomalies, choose abortion tells Catholics a few things about why and where the Gospel is needed.

A society that reveres health and wellness is one that will have trouble in the face of sickness, aging, and death. It needs to hear the good news that suffering has been redeemed, and that it stretches the hearts of patients, caregivers, and the people they encounter.

A scene from the movie Gattaca. (IMDB)

Being mortals, bodily decay or dysfunction will come to all of us; some members of our human family experience it more acutely or earlier than others. They should receive more care, not more marginalization, because of it.

A materialist society that reduces people to their bodies and even microscopically, to their genetic material needs to know the truth that human beings have a body and a soul. The most important quality that children have and develop is their capacity to love, something that does not depend on their physical or cognitive ability.

A consumer-driven society, one that has become accustomed to customizable, curated lifestyles, is one that considers parenthood as a fulfillment of desires or a way to construct meaning and identity. Such a society which does not pause at the ways it commodifies its children needs to be reminded to protect the little ones. And a society that has unlimited access to information desperately needs wisdom.

The opening credits of Gattaca include a cautionary line from the Book of Ecclesiastes: Consider what God has done: Who can straighten what He has made crooked?

The answer to this rhetorical question should humble us. It should also help us to see all children not as something owed, but as gifts to be received as is, with all of their challenges and strengths.

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The Genetic Information Age is here. Are we ready? - Angelus News

The lynx-hare predator-prey cycle that has existed for thousands of years in North America is increasingly under threat from climate change.

The lynx are specialist predators that rely almost exclusively on snowshoe hare for food. This has led to a tight link between the populations of the two species; as the snowshoe hare populations rise and fall over a roughly 10-year cycle, lynx populations follow suit, says Dr. Jamie Gorrell, a VIU Biology Professor. When hare abundance is at its peak, lynx have plenty of food and have high survival rates, causing population booms that match, but lag slightly behind, those of the hare.

As snowshoe hare populations begin to decline, some lynx change their behaviour and begin to travel long distances, sometimes more than 1,000 kilometres, in search of food.

To understand how this cycle, which helps maintain the biodiversity of more than a dozen species in the boreal forest, could be impacted by climate change Gorrell and Dr. Evan Hersh, a VIU post-doctoral fellow, are studying the genetics of Canada lynx.

The genetic information will help researchers and conservationists understand lynx movements and connectivity among populations to identify potential habitat corridors that are essential to ensuring lynx populations remain genetically diverse.

Genetically mixed lynx populations will in turn help lessen the impact climate change may have on the stability of the lynx-hare cycle, a process vital to the functioning of boreal and sub-boreal ecosystems, says Gorrell.

Hersh is using genomic analyses and bioinformatics to analyze DNA samples that were collected with the help of Yukon residents, fur trappers and the Yukon Community Ecological Monitoring Program. The samples were collected at multiple phases during a 10-year cycle in hare abundance.

Hersh recently finished his PhD in plant ecology and evolution at the University of British Columbia and has extensive experience in genomic techniques. He says biologists now also need to be computer programmers to be able to crunch the huge amounts of data being generated in the genomic era.

Hersh will be comparing the genetic differences between Canada lynx from different areas. He said with newer techniques, instead of comparing a few hundred genetic markers, researchers can now compare tens of thousands of genetic markers.

Were hoping this thousandfold increase in the amount of data will give us the ability to figure out what is going on with their population structure. To date, no one has really applied these cutting-edge genomic techniques that produce huge amounts of data to analyze the population structure of Canada lynx within a conservation and management context, says Hersh.

The lynx needs these huge chunks of boreal forest that are continuous, not broken into little patches. If something happens in the southern portion of the boreal region, due to human use or climate change, and the area starts getting fragmented, then lynx movement can potentially be impacted, says Hersh.

They could have trouble passing over certain regions where there isnt enough boreal forest for them to travel through, which could have cascading effects on hare populations and potentially disrupt the cycle.

Hersh said if lynx and hare populations no longer follow predictable cycles, this can have tremendous impacts on the biodiversity of Boreal forests. It is estimated that the abundances of over 25 vertebrates are also regulated by this cycle. While the exact consequences of a disruption are difficult to predict, it could alter the natural patterns of genetic variation in all species that fluctuate with the cycle, which could ultimately reduce their ability to respond to future changes in their habitat and climate.

The concern is if climate change reduces the continuity of the forest and lynx cant move as far anymore, then this could disrupt that 10-year cycle.

This relationship between predator and prey could start to fall apart, so thats a potential consequence of climate change that we might not expect to happen. No one knows whats going to happen to the lynx and hare populations, says Gorrell. Most predator-prey relationships are generally stable over time and the abundance of predators and prey will stay relatively constant, but the lynx and hare have these huge peaks and crashes that happen like clockwork and its amazing how that cyclical relationship has maintained over time.

Gorrell and Hersh will be completing their research over the next two years thanks to an Accelerate Fellowship grant for $90,000 awarded jointly from Mitacs and Bill Harrower, principal biologist at High-Country Wildlife.

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MEDIA CONTACT:

Rachel Stern, Communications Officer, Vancouver Island University

C: 250.618.0373 lE: Rachel.Stern@viu.ca | T: @VIUNews

List of Project Supports/Partners

Research will be completed thanks to a grant from Mitacs and Bill Harrower, principal biologist at High-Country Wildlife.

This project is also being supported by:

The Community Ecological Monitoring project includes collaboration among researchers from:

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VIU Researchers Examining Genetics of Canada Lynx | News | Vancouver Island University | Canada - Vancouver Island University News

1.

Hold on to your crowns, royal devotees: This one's a doozy. Prince Louis, whose mother is Kate Middleton, happens to look like Michael Middleton, who is get this Kate's father. I know, we were shocked, too. In a rare public appearance over the weekend, the 2-year-old prince was photographed alongside his family, and royal fans were quick to point out the striking physical similarities between Louis and his maternal grandfather. It's unclear why commenters thought the resemblance was particularly noteworthy, although it wasn't the first time Grandpa Middleton and the royal children have proven genetics do, in fact, exist. At least we now know there's hope for a non-bald King of the United Kingdom sometime in the next century. [Daily Express]

Despite the global pandemic, Cody Simpson has been pretty busy this year. He wasn't just singing, writing poetry, working as a United Nations Ocean Advocate, and falling in and out of love with Miley Cyrus. A "silent fire" in his stomach fueled his return to competitive swimming, and after five months of training, the Australian singer secured a spot in the 2021 Australian Olympic trials for the 100-meter butterfly event. "It is my greatest ambition to expand the limit and perceived notion of what's possible for someone to achieve in a single lifetime," Simpson wrote, "and I'm here to tell you can do absolutely ANYTHING if you are willing to work for it." H/T to Simpson for inspiring us while simultaneously putting us all to shame. [People]

The accolades start coming and they don't stop coming. Nearly 20 years after Shrek was released, we can breathe a sigh of relief knowing that our favorite ogre will be remembered for a long time to come. The Library of Congress announced this year's additions to the National Film Registry (which works to "ensure the survival, conservation, and increased public availability of America's film heritage"), and Shrek made the cut, getting praise for being "entertaining and emotionally impactful at levels to be appreciated by both children and their adults." The 25 selected films also include a record number of films directed by women and people of color. "We are not trying to set records but rather to set the record straight," Librarian of Congress Carla Hayden said. Hallelujah. [Variety, Library of Congress]

Story continues

Less than three weeks until The Office leaves Netflix? No, God, please no! The classic NBC show will be removed from Netflix at the end of the year and head to NBCUniversal's streaming service Peacock, and on Monday, it was announced that users will need a paid subscription to stream most of the episodes. Starting on Jan. 1, the first two seasons of The Office will stream on Peacock for free with ads, but seasons three through nine will require a $4.99 a month Peacock Premium subscription. That's yet another streaming service fans are being asked to pay for alongside Netflix, Hulu, Disney+, HBO Max, and more enough to make you want to shout, "I declare bankruptcy!" [The Wrap, Variety]

Taylor Swift released Evermore less than a month after Netflix released season four of The Crown, so it's not entirely unreasonable to suggest every song on Swift's surprise album is actually about the monarchy. However, one song in particular seems like it really fits the narrative, leading many fans to speculate the album's fifth track, "Tolerate it," is based on the relationship between Princess Diana and Prince Charles. The song, which distressingly details a broken relationship, references themes of infidelity and mental health that are also explored on The Crown. Swift also sings about using "fancy" tableware, and we all know the monarchy is very fancy. If that weren't enough, one of the song's lyrics is "You're so much older," which, hello, Charles was 12 years Diana's senior! Wake up, America the writing is quite literally on the wall. [Insider]

More stories from theweek.comJoe Biden still doesn't get itThe Trump campaign is asking its email list if Trump should run for president in 2024Washington National Cathedral rings funeral bell for 30 minutes to mourn 300,000 COVID-19 deaths

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The daily gossip: A T-Swift lyric theory, royal genetics, and the future of The Office - Yahoo News

More than a year after the first cases of COVID-19 were detected, researchers are still trying to understand why some people infected with the virus become critically ill, while others have little to no symptoms. Scientists have turnedto look at the genes of patients with severe COVID-19 to understand if their bodies mount an immune defense differently than healthy patients do. A genome-wide association study published in Natureon December 11 finds that variants of five key genes responsible for antiviral immunity and lung inflammation are associated with severe COVID-19.

The findings offer potential therapeutic targets to create an effective COVID-19 treatment. Our results immediately highlight which drugs should be at the top of the list for clinical testing, Kenneth Baillie, a consultant in critical care medicine and a senior research fellow at the University of Edinburgh, tells Reuters.

Baillie and his colleagues analyzed the DNA of 2,244 patients across 208 UK intensive care units and compared it to matched controls who did not have a positive COVID-19 PCR test on file. They identified eight loci where variants were more common among the intensive care patients, of which five were in genes linked to the immune systemIFNAR2, TYK2, OAS1, DPP9, and CCR2.

An analysis looking into the relationship between the activity of certain genes and severe COVID-19 pointed to a lower expression of IFNAR2, a gene that encodes a building block of a receptor for interferons, which act as emergency flares to warn the immune system of an intruder and have been a target for researchers hoping to develop a COVID-19 treatment. However, administering interferon to hospitalized COVID-19 patients did not reduce mortality, according to a large clinical trial published earlier this month.

The researchers also homed in on a possible link between severe COVID-19 and higher expression levels of TYK2and CCR2, which encode proteins used in cytokine signaling, which drives inflammation and can lead to lung injury. The anti-inflammatory drug baricitinib, typically used to treat rheumatoid arthritis, inhibits the protein encoded by the TYK2gene and has shown promising results in treating COVID-19 when paired with remdesivir, a broad spectrum antiviral that has shown limited effectiveness against the virus by itself, according to a study published December 11 in The New England Journal of Medicine.

While the Naturestudy may offer clues for the genetic underpinnings of severe COVID-19 infection, finding an effective treatment in humans may still be years away. There is no guarantee that when a gene is found, targeting that gene will result in therapeutic efficacy, Tom Hemming Karlsen, a physician at the University of Oslo who did not participate in the new work, tells The Washington Post. What genetics studies like this then do is they help us find very specific starting points for further investigation.

The authors' investigation indicated that there is a causal role for IFNAR2 and TYK2. Sara Clohisey, a research fellow at the University of Edinburgh and a coauthor of the Nature study, notes that there are likely many other factors beyond these gene variants that contribute to COVID-19 disease severity.

A chunk of the answer is in our genes, but its unlikely that a single element is fully responsible for the development of severe COVID-19, she tells the Post. Its more likely to be a combination of factors, which may include genetics as well as age, obesity, gender, and other characteristics.

Correction (December 15): A previous version of this article misinterpreted Sara Clohisey's comments about the causality of her findings.The Scientistregrets the error.

Read more from the original source:
Key Genes Related to Severe COVID-19 Infection Identified - The Scientist

You might have heard of racial essentialismthe decades-old belief races are biologically distinct groups determined by genes. It has no scientific basis, yet it lingers, along with many other racist ideas, in U.S. health policies and clinical practices. Along with racism in medicine, the belief has perpetuated generations of harm.

In Examining Race-Based Medicine, a recent episode in the AMA Prioritizing Equity video series, a panel of experts discussed the core criticisms of race-based medicine and what physicians can do proactively to oppose it in clinical practice, medical education and research.

At the November 2020 AMA Special Meeting, the House of Delegates adopted policy to counteract the notion of racial essentialism, which was identified in a resolution presented at the meeting as the belief in a genetic or biological essence that defines all members of a racial category. It was one of the several actions that delegates took to oppose racism and advance equity in medicine and public health.

How we got here

Perhaps the most infamous example of race-based medicine is the use of isosorbide dinitrate/hydralazine(marketed as BiDil) to treat congestive heart failure in African Americans. The Food and Drug Administration at first rejected the drugs application after a clinical trial failed to show the drug's efficacy for a multiracial population.

After looking over their data, though, the drugmaker, NitroMed, ran a clinical trial that enrolled only men and women who self-identified as African American. The results showed sufficient decrease in mortality and reduction in risk of first hospitalization against placebo, and the FDA approved itfor Black patients onlyin 2005. It was the first drug approved for a single racial group.

But the study had at least one major flaw: It had no control group. Fifteen years later, BiDil remains, according to the drugmakers website, the only heart failure medicine specifically indicated for self-identified African American patients.

The story of BiDil demonstrates how durable race-based medicine can be. There are also years-old race adjustments in clinical algorithms, such as the estimated glomerular filtration rate (eGFR) equation and the vaginal birth after Cesarean section (VBAC) calculator. Some have only dubious evidence supporting them; others have been shown to produce negative health outcomes.

What race-based medicine tells me [is] if I go into a clinic and I need to do spirometry to test my lung function, then what I'm being told is, because I'm of Asian race, that my lung function should be corrected differently than that of a white or a black person, said RohanKhazanchi, amedical student at University of Nebraska Medical Center College of Medicine.

That implies that there's something different about my lungs than [those] of somebody else, and it implies that there's a biological trait that is different in me than somebody elsejust because I'm Asian, said RohanKhazanchi. But race is merely a social and political construct. It is not, he noted, equivalent to ancestry or genetics.

We just need to think about how nonsensical this is in a biological and scientific sense, Khazanchi said. It's important to know that race as a category has changed throughout time in American society, he added, noting that U.S. Census definitions of race change every 10 years. So it's not even a stable category.

How to counter it

The panelists noted several ways that physicians can actively stamp out race-based medicine.

Adapt your programs. For example, the Maternal-Fetal Medicine Units Network, created by the National Institute of Child Health and Human Development, is revising its VBAC calculator to omit race/ethnicity. This change came after scholarship and advocacy over several years by medical trainees and physicians challenging this use of race adjustment, led by one of the panelists, Darshali Vyas, MD.

In medical school the VBAC calculator was one striking example of the potential damage done by correcting for race where racial inequity already exists. But this practice is widespread in medical tools, said Dr. Vyas, a resident physician at Massachusetts General Hospital who recently co-wrote a New England Journal of Medicine article outlining additional examples of race correction in medicine.

Hammer home research inconsistencies. So much scholarship on race-based medicine doesnt define the major operating variable, said Michelle Morse, MD, MPH, a hospitalist and assistant professor at Harvard Medical School. Why is the burden of proof on us to prove that it's faulty when there's so much going against some of this existing data?

Partner with quality improvement experts. You should have help at your institution in your effort to advance accountability and outcomes, as well as at state and federal agencies.

Push for nationwide agreement. Right now, there's huge variability in terms of institutions who have access to certain biomarkers, who are using different eGFR equations, said NwamakaEneanya, MD, MPH, attending nephrologist and assistant professor of medicine and epidemiology at the Perelman School of Medicine at the University of Pennsylvania.

We all need to get on the same page and think about what's the most equitable option that will be safe for our patients? she said.

Dr. Eneanya is part of a race and eGFR task force formed by the National Kidney Foundation and American Society of Nephrology that will help standardize race and eGFR reporting across the country and also advance health equity for patients with kidney disease.

Systemwide bias and institutionalized racism contribute to inequities across the U.S. health care system. Learn how the AMA is fighting for greater health equity by identifying and eliminating inequities through advocacy, community leadership and education.

Check out recent episodes in the Prioritizing Equity video series on research and data for health equity and moving forward after the 2020 elections.

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Race-based medicine is wrong. How should physicians oppose it? - American Medical Association

News Release

Thursday, December 10, 2020

The National Institutes of Healths All of Us Research Program has begun to return genetic results to participants who have donated biosamples for research. This reflects the programs priority to give back information to its research volunteers. Initially, participants can choose to receive information about their genetic ancestry and traits, with health-related results available at a later date.

The All of Us Research Program is working to build a diverse community of 1 million or more participant partners across the U.S. to help researchers learn more about how genetics, environment and lifestyle factors affect health outcomes. Participants share information in a variety of ways, including surveys, electronic health records, biosamples (blood, urine and/or saliva) and more. Data is stripped of personal identifiers and made available for research through the All of Us Research Hub.

As part of its core values, the program is committed to ensuring that participants have access to their own information, and many participants have expressed a strong desire to understand what their DNA can tell them.

Were changing the paradigm for research, said Josh Denny, M.D., All of Uss chief executive officer. Participants are our most important partners in this effort, and we know many of them are eager to get their genetic results and learn about the science theyre making possible. Were working to provide that valuable information in a responsible way.

The program's in-depth genetic analyses include both whole genome sequencing and genotyping. Whole genome sequencing focuses on the more than 3 billion base pairs in the human genome, while genotyping looks at millions of genetic variants focused on peoples most common genetic differences.

To return genetic information, the program has developed a robust informed consent process, giving participants information and choice about whether or not to receive results and which results they want to get back. The program also provides access to genetic counselors to help answer questions from participants and their health care providers.

All of Us teamed up with a network of awardees across the country to support this work, including the health technology company Color, to return the personalized results on genetic ancestry and traits, and a set of leading genome centers to generate the genetic data: Baylor College of Medicine, the Broad Institute and the Northwest Genomics Center at the University of Washington, alongside their partners.

With the All of Us Research Program, were beginning to return results for a genomics program that is of unprecedented scale, said Alicia Zhou, Ph.D., chief science officer at Color. For a long time, the research community has recruited participants into large-population genomics studies without returning any results back to them. With All of Us, weve provided the tools to do just thatin a convenient and accessible way. We now have a real opportunity to return value to participants.

All of Us is taking a phased approach to the return of genetic results and will offer additional results over time. In about a year, the program plans to begin offering participants the option to receive information about how their DNA may affect their bodys response to certain types of medicines (pharmacogenetics), and about genetic variants associated with the increased risk of certain diseases, based on guidelines of the American College of Medical Genetics and Genomics. Participants will receive information back as their DNA samples are processed, so not everyone will receive information immediately.

Since All of Us opened enrollment nationwide in 2018, more than 270,000 people have contributed biosamples and more than 80 percent come from communities that are historically underrepresented in biomedical research. These include racial and ethnic minorities, sexual and gender minorities and other groups.

We need programs like All of Us to build diverse datasets so that research findings ultimately benefit everyone, said Brad Ozenberger, Ph.D., All of Uss genomics director. Too many groups have been left out of research in the past, so much of what we know about genomics is based mainly on people of European ancestry. And often, genomic data are explored without critical context like environment, economics and other social determinants of health. Were trying to help change that, enabling the entire research community to help fill in these knowledge gaps.

All of Us plans to begin making genetic data available to researchers in about a year, with strict privacy and security safeguards in place to protect participants information. The program seeks to engage researchers from diverse backgrounds to undertake a wide range of studies and learn more about how to tailor care to peoples different needs.

To learn more about All of Us and to join, visit JoinAllofUs.org.

About the All of Us Research Program: The mission of the All of Us Research Program is to accelerate health research and medical breakthroughs, enabling individualized prevention, treatment, and care for all of us. The program will partner with one million or more people across the United States to build the most diverse biomedical data resource of its kind, to help researchers gain better insights into the biological, environmental, and behavioral factors that influence health. For more information, visit http://www.JoinAllofUs.org and http://www.allofus.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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Read more from the original source:
NIH's All of Us Research Program returns first genetic results to participants - National Institutes of Health

Joaquin Casariego Garcia-Luben

Precision medicine is a term we are all familiar with in the industry, however its true meaning should not be underestimated.

Although its scientific basis is complex and is founded on an understanding that has taken many decades for the research community to uncover, it comes down to one very simple premise: that every patient is unique and requires bespoke medical care.

This is particularly true in oncology, where we are relentlessly undertaking research to help us uncover potential therapies which will target genes that have mutated or been altered. By focusing on the genetic make-up of the tumour itself when considering treatment pathways, we have the potential to see positive benefits in the clinical setting.

Developing transformational treatments

Finding solutions to the challenges we face in oncology, such as improving our understanding of the route for malignant tumour progression and early development, as well as meeting the needs of severely underserved patient populations, are my biggest driving ambitions.

For me, its a very personal challenge. Devastatingly, my father passed away this year due to cancer during the peak of the coronavirus pandemic in Spain. This tragedy has further strengthened my resolve to not rest until we, together as a community, can create a radically improved future for all oncology patients, their families and friends.

It is for people like my father, the hundreds of cancer patients I treated as a physician, and indeed my family, that I am so dedicated to my work every single day, both as a clinician and as a researcher. I am very much aware of my part in developing transformational and precise treatments that can improve peoples lives. To me, this means providing patients with the invaluable gift of more quality time: not just adding years to life, but also life to years.

Patient-centred research

Ultimately, I believe that precision medicine requires doing the right things, such as daring to innovate in more patient-centred research and doing things right by conducting research under the highest scientific, operational and ethical standards, while taking advantage of new technologies at our disposal.

In this endeavour to eradicate or intercept cancer, it is our duty to account for distinct differences in peoples -omics spectrum, but also importantly in their clinical, psychosocial and professional environments, while also considering unique lifestyle-related factors. All of which interact in one way or another, in every patient, linking subpopulations with similar features and so, prognosis and outcomes.

Through my work at Janssen I am privileged to be part of a company that is driven by the premise of providing personalised treatment solutions in cancer care. Across our solid tumours portfolio, we are confident that our approach to precision medicine will deliver significant societal value, by optimising patient care through improving disease prevention, diagnosis and treatment.

As I see it, precision medicine is truly an evolution where we are dedicated to moving away from a disease-focused model, so that we can translate technological advances into more patient-centred benefits.

Powering precision medicine

Biomarkers are well known in the oncology space and as a company we are determinedly pioneering research in areas where patients currently face poor clinical outcomes, such as those living with urothelial carcinoma (UC), the most common type of bladder cancer.

I am particularly proud of our achievements in this area, where we were the very first company to receive FDA approval for a fibroblast growth factor receptor (FGFR) inhibitor in advanced and metastatic bladder cancer harbouring an FGFR alteration, addressing the considerable unmet need for patients living with this disease.

Not only are we exploring this in bladder cancer, but we are also investigating a multitude of solid tumour types that bear these genetic aberrations so that a wider range of patients could potentially benefit from this research.

Targeted therapies

Furthermore, by following a similar trajectory in the treatment of non-small cell lung cancer (NSCLC), where we are studying specific alterations in the epidermal growth factor receptor (EGFR), we endeavour to provide options to a heavily underserved patient population.

Our teams of clinical researchers are unrelenting in their efforts to deliver data to support the treatment of patients who have NSCLC expressing exon 20 insertion mutations in the EGFR gene, who have extremely limited options currently, while also developing treatments to bring practice changing results.

In addition, DNA repair defects (DRD) such as BRCA- 1/2 or ATM mutations present in advanced- and late-stage prostate cancer represent a key focus for Janssen in complementing the continuum of targeted therapies now available to prostate cancer patients, including PARP inhibitors.

Its my firm belief that advances in all these research areas may provide important outcomes for patients living with these deadly diseases, and help to address one of the most pressing health challenges that exists: achieving long-duration and high-quality cancer survivorship.

Tailored solutions for patients

The patients of today are certainly more empowered and better-informed than ever before. I see examples of this every single day, and at Janssen we are devoted to ensuring that patients inform our every step, from providing input into the design

of our clinical trials, right through to our disease area strategies. An important element in ensuring treatments reach the right patients, at the right time and for the right outcome, when biomarkers play a critical role in patient outcomes, is through using a companion diagnostic. I am excited to see first-hand how, at Janssen, we are working to shape the personalised healthcare spectrum through accurate testing in the clinical setting.

The right test, performed at the right time, not only benefits patients directly but also helps to support healthcare systems by allowing medications to be used in the most appropriate patient populations and in an efficient way, from a resource perspective.

Biomarker testing

Thats why, in collaboration with our strategic industry partners, we are pursuing biomarker testing to accurately identify patients whose tumours harbour FGFR alterations, ensuring they receive appropriate treatments tailored to their needs. This, in turn, will help to guide treatment decisions in the clinical setting.

We are following a similar approach in lung cancer through an ongoing partnership to pursue a molecular diagnostic strategy for our early-stage investigational EGFR-MET bispecific antibody, which is being studied in the treatment of NSCLC.

Similarly, DRD testing in late stage prostate cancer is needed to identify patients who could potentially benefit from PARP inhibition. Through use of these diagnostics, we can limit inefficient use of healthcare resources and direct these back to where they truly matter patient outcomes.

I am constantly impressed by the tireless endeavours of our biomarker scientists whoare also working to create tests that detect the presence of androgen receptor (AR) abnormalities for people living with prostate cancer.

These tests are designed to detect multiple biomarker changes simultaneously, and efforts are ongoing to understand the changes that occur in circulating tumour cells (CTCs) as a result. This ongoing research will undoubtedly help us to better understand the development of prostate cancer at the molecular level, so that we can move towards more personalised treatments in this space, as well as in bladder and lung cancers.

Pushing the boundaries

Janssens precision medicine research, supplemented by new technologies such as Artificial Intelligence (AI), is pushing the boundaries of what we previously thought possible. We are working to make this beneficial for the patients of the future, by combining with big data collected from patients with a long- duration disease course.

This is exciting for a number of reasons, not least the potential to reformulate our understanding of the impact of different diagnostics and treatment approaches in clinical practice. More specifically, through our ORACULUM studies, we are using AI to analyse patient-level data that is collected through electronic health records across numerous countries in Europe, the Middle East and Africa.

This will give us the opportunity to inform the wider scientific community on new hypotheses for future trials. I firmly believe that, with the help of like-minded strategic partners and groundbreaking technological advances such as these, we are making huge strides on our combined journey towards changing what a cancer diagnosis means for the patients of today and tomorrow.

Cross-industry partnerships

With the evolving focus on precision medicine comes a great deal of change for the pharmaceutical industry, and vitally hinges on resilient, cross-industry partnerships. I strongly believe in the power of collaboration and our alliances take many forms, but our goal is always the same: to advance scientific research which has the prospects to deliver solutions that provide value to patients, physicians, payers and society as a whole.

Through this combined, robust approach I am optimistic that, as an industry, we will revolutionise the way we treat cancer and pave the way for the precision medicine of the future.

I look forward to a time when our ambitions to make cancer a manageable condition can become a reality, both for patients like my father and for their families because time has a wonderful way of showing us what really matters.

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Unlocking the potential of precision medicine in oncology - PMLiVE

The growth of the global polymerase chain reaction market is likely to be driven by its growing utilization in various clinical diagnostics, increasing demand for precision and personalized medicine. In addition, growing application in the development of drugs and technological progress is likely to work in favor of the global polymerase chain reaction market over the timeframe of analysis, from 2019 to 2029.

In the last few years, personalized medicine has gained increasing popularity due to its ability to offer tailor-made therapies to patients. Personalized medicines come with a high margin of safety and promise of offering improved patient care and lower the overall cost of healthcare. The increasing demand for personalized medicines is likely to generate immense opportunities for the genetic medicines. There is a growing need for the development of novel technologies, which can be utilized for the purpose of expansion of the global polymerase chain reaction market. In an attempt to attain competitive edge in the rising field of personalized medicine, pharmaceutical and biotechnological companies are exploring the grounds of direct-to-consumer genetic testing and genomic medicine. These factors are likely to foster growth of the global polymerase chain reaction market over the period of assessment, from 2019 to 2029.

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Product, end user, and region are the three significant parameters based on which the global polymerase chain reaction market has been categorized. The main purpose of such segmentation is to offer a lucid and detailed view of the said market.

Global Polymerase Chain Reaction Market: Notable Developments

The global polymerase chain reaction market is marked with presence of quite a few prominent players and it is considered moderately competitive market for both the existing players and new entrants. These companies are entering into partnerships, collaborations, and mergers in an effort to gain larger revenue and share of the market.

Some of the key players in the global polymerase chain reaction market comprise the below-mentioned:

Global Polymerase Chain Reaction Market: Key Trends

The below-mentioned market dynamics are estimated to characterize the global polymerase chain reaction market over the assessment period, from 2019 to 2029.

The development of the global polymerase chain reaction market is likely to gather momentum with the outbreak of Covid-19 across the globe. In an effort to facilitate growth of personalized medicine, it is essential to come up with reproducible and precise tool of gaining information about molecule about underlying conditions. Such developments are likely to guide correctly the clinical decision making abilities with a large number of tests making use of PCR techniques. All these factors are likely to pave way for growth of the global polymerase chain reaction market over the timeframe of analysis, from 2019 to 2029.

In addition to Covid-19, outbreak of infectious diseases, such as Zika has generated increased demand for PCR-based molecular assays. This technique is gaining increased importance for the purpose of identification of pathogens of these infectious diseases, which is why the demand for polymerase chain reaction is likely to rise in the years to come.

Global Polymerase Chain Reaction Market: Geographical Analysis

North America is expected to dominate the growth of the global polymerase chain reaction market over the timeframe of analysis, from 2019 to 2027. Growth of the North America is ascribed to the presence of flexible regulatory guidelines and favorable government initiatives, Asia Pacific is likely to come up as rapidly growing region in the global polymerase chain reaction market. Improvement in the healthcare infrastructure and increased expenditure on healthcare industry is expected to propel growth of the Asia Pacific market in the years to come.

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The global polymerase chain reaction market is segmented as:

Product

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Polymerase Chain Reaction Market | Increased Outbreak of Infectious Diseases to Accentuate Demand in the Market - BioSpace

LEXINGTON, Mass., Dec. 14, 2020 /PRNewswire/ --LogicBio Therapeutics Inc. (Nasdaq: LOGC), a clinical stage genetic medicines company developing therapies based on advanced gene editing technology and next-generation synthetic capsids, today announced that Daphne Karydas and Jeff Goater have been appointed to the Company's board of directors.

"We are excited to welcome Daphne and Jeff. They both bring an impressive depth of experience and proven leadership in the areas of corporate finance, global strategic planning, mergers and acquisitions and strategic partnerships in the biopharma sector," said Frederic Chereau, LogicBio president and CEO. "As we plan for many major developments at LogicBio including initiation of our phase 1/2 SUNRISE clinical trial for LB-001, we believe their expertise will play a central role in guiding our corporate strategic planning and help us reach new levels of momentum in all operational areas."

Ms. Karydas is chief financial officer at Syndax Pharmaceuticals, a clinical stage biopharmaceutical company developing an innovative pipeline of cancer therapies. Previously, she served as senior vice president of corporate financial planning & analysis and strategy at Allergan plc, where she oversaw financial and business strategy through the company's acquisition by Abbvie in May 2020. Prior to joining Allergan, Ms. Karydas spent over 17 years in asset management and investment banking focused on the bio-pharmaceutical sector. She served as a senior healthcare analyst at J.P. Morgan Asset Management and a portfolio manager and senior healthcare analyst at The Boston Company Asset Management and was a vice president at Goldman Sachs Asset Management and a member of Goldman Sachs' healthcare investment banking team. She began her career as a project chemical engineer at Merck & Co. and earned a B.S. and M.S. in chemical engineering from the Massachusetts Institute of Technology and an M.B.A. from Harvard Business School.

Mr. Goater is chief executive officer at Surface Oncology, an immuno-oncology company developing next-generation antibody therapies. Previously he was chief financial officer of Voyager Therapeutics, helping to guide the company through an initial public offering and establishment of a strategic partnership with Sanofi Genzyme. For almost ten years he was an investment banker, most recently at Evercore Partners where he was an advisor on more than $100 billion in strategic transactions in the biopharma industry. He began his career as a research scientist and earned master's degrees in microbiology/immunology, pathology and business administration from the University of Rochester.

"I am especially excited to be joining the LogicBio board of directors as the Company plans for a range of promising product development milestones and business opportunities based on the potential of the platform," said Ms. Karydas. "I look forward to working with the team to expand the Company's progress and target new opportunities in the rapidly emerging gene editing space."

"In recent years, LogicBio has made significant progress both in advancing its pipeline and in positioning the Company for many promising opportunities in research and business development," said Mr. Goater, adding, "I look forward to joining with the other members of the board in helping the Company achieve its mission of bringing innovative therapies to patients with rare diseases around the world."

"As we welcome Daphne and Jeff to our board, we also are very grateful to Erez Chimovits and Daniel O'Connell, who are stepping down from our board, for their service during several formative and active years for our Company," Mr.Chereau added.

About LogicBio Therapeutics

LogicBio Therapeuticsis dedicated to extending the reach of genetic medicine with pioneering platforms. LogicBio's proprietary genome editing technology platform, GeneRide, enables the site-specific integration of a therapeutic transgene without nucleases or exogenous promoters by harnessing the native process of homologous recombination. LogicBio has received FDA clearance for the first-in-human clinical trial of LB-001, a wholly owned genome editing program leveraging GeneRide for the treatment of methylmalonic acidemia. Patient enrollment in the phase 1/2 SUNRISE clinical trial is expected to begin in early 2021. In addition, LogicBio has a collaboration with Takeda to research and develop LB-301, an investigational therapy leveraging GeneRide for the treatment of the rare pediatric disease Crigler-Najjar syndrome.

LogicBio is also developing a Next Generation Capsid platform for use in gene editing and gene therapies. Data presented have shown that the capsids deliver highly efficient functional transduction of human hepatocytes with improved manufacturability with low levels of pre-existing neutralizing antibodies in human samples. Top-tier capsid candidates from this effort have demonstrated significant improvements over benchmark AAVs currently in clinical development. LogicBio is developing these highly potent vectors for internal development candidates and potentially for business development collaborations.

Forward Looking Statements

This press release contains "forward-looking" statements within the meaning of the federal securities laws. These are not statements of historical facts and are based on management's beliefs and assumptions and on information currently available. They are subject to risks and uncertainties that could cause the actual results and the implementation of the Company's plans to vary materially, including the risks associated with the initiation, cost, timing, progress and results of the Company's current and future research and development activities and preclinical studies and potential future clinical trials. These risks are discussed in the Company's filings with theU.S. Securities and Exchange Commission(SEC), including, without limitation, the Company's Annual Report on Form 10-K filed onMarch 16, 2020, the Company's Quarterly Report on Form 10-Q filed on May 11, 2020, and the Company's subsequent filings with theSEC. Except as required by law, the Company assumes no obligation to update these forward-looking statements publicly, even if new information becomes available in the future.

Media contact:Jenna UrbanBerry & Company Public Relationsjurban@berrypr.com212 253 8881

View original content:http://www.prnewswire.com/news-releases/logicbio-therapeutics-names-daphne-karydas-and-jeff-goater-to-board-of-directors-301191719.html

SOURCE LogicBio Therapeutics, Inc.

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LogicBio Therapeutics names Daphne Karydas and Jeff Goater to Board of Directors - BioSpace

The science is getting sharper and the barriers to reimbursement are eroding. But another major obstacle remains to delivering on the promise of precision medicine.

It involves getting the right information into the hands of front-line doctors in a way that they can use it, experts and entrepreneurs in the field said in a series of interviews with MedCity News.

The critical information has to be on one page. The clinician has to be able to interpret it in one minute, said Daniel Rhodes, co-founder and CEO of Strata Oncology, a genetic testing and data company based in Ann Arbor, Michigan. If we can do that, we can expand the use of the most compelling therapies and trials that are available.

Precision medicine relies on collecting genetic and genomic information from patients and using the results to target therapies, be it in oncology or in rare and difficult-to-treat diseases. The information can also determine whether a given medication will work for more common ailments. However, genetic-test results and treatment guidance often arrive in a lengthy format that can take time to decipher.

Not surprisingly, roughly two-thirds of Americans still have not heard of precision or personalized medicine, according to a fall survey by the Personalized Medicine Coalition, based in Washington, D.C. Only 11 percent of patients say their doctors have discussed or recommended personalized treatment options, the coalition added.

Perhaps the greatest challenge to integrating personalized medicine into health care is a lack of education and awareness among patients and health care professionals, the coalition wrote in a November report.

The need for clearer information propelled the launch of 2bPrecise. The Raleigh, North Carolina-based company has developed a platform to bring genetic and other data to the point of care to help create more tailored plans for patients. The platform, for example, could determine whether a patient might benefit from a current clinical trial or help doctors understand a patients response to certain medications.

Dr. Joel Diamond, the companys chief medical officer and a co-founder, said critical information often is buried in dense, lengthy documents. An aha moment came when he and the companys CEO, Assaf Halevy, were listening to someone talk about how advances in cancer genetics would change cancer care. The speaker was showing a 30-page PDF packed with technical language.

One nugget was important to the oncologist to treating a patient, said Diamond, who still cares for patients at a family practice in Pittsburgh. But it was one nugget in this 30-page PDF.

Another challenge for community oncologists is the rapid pace of change in precision medicine, said Priti Hegde, chief scientific officer at Foundation Medicine, a cancer diagnostics company based in Cambridge, Massachusetts, now part of Roche.

Foundation Medicine and other companies are quickly developing liquid biopsies and other tests that can match a specific therapy based on the genetic make-up of a patients tumor. Originally targeting advanced cancers, the therapies themselves are moving into earlier and earlier lines of treatment.

I think the more complex the treatment landscape becomes, the more we need to simplify the decision landscape for oncologists, Hegde said,

Foundation Medicine has been taking steps in that direction. In 2015, for example, the company launched a molecular tumor board program to help practicing oncologists understand the companys reports and their clinical utility. At the same time, the forums help the company learn what oncologists need, Hegde said.

Understanding what keeps oncologists from leveraging precision diagnostic tools is really helping us figure out how to help them, she added.

Educating doctors also is a focus for Color, a health technology company whose services include genetic testing. About half the calls to its genetics counselors come from physicians, said Alicia Zhou, chief science officer at Color, which is based in Burlingame, California.

Some doctors, already well-informed on genetics, are calling to probe the technical underpinnings of a report, Zhou said in a phone interview. Others may be more in need of a primer, particularly if they went to medical school before genetics was a common area of study.

We want to make sure your primary care provider knows what to do with our results, Zhou said.

The widespread use of genetic and genomic data in health care is inevitable, Zhou said. The question is when is that future. Is it 50 years from now? Is it 10 years? Is it five? The difference between making it 50 years from now versus five years is making sure the medical community can use the data without feeling like it is a giant unknown.

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Getting the right data to doctors is next hurdle for precision medicine - MedCity News

WASHINGTON, Dec. 15, 2020 /PRNewswire/ --Over the last 30 years, significant progress has been made in the fight against cancer. Researchers have expanded their understanding of how cancer develops and how to target medicines for specific cancer types. Since peaking in 1991, the death rate associated with cancer declined by 29%, which translates to 2.9 million fewer cancer deaths. The most recent data shows that between 2016 and 2017 alone, cancer death rates declined by 2.2%, the largest single-year drop ever recorded. Despite the challenges imposed by the COVID-19 pandemic, this momentum continues with biopharmaceutical companies focusing on research and development of innovative cancer therapies.

Still, cancer remains the second leading cause of death in the United States, accounting for 21% of all deaths. It is estimated that new cancer cases reached 1.8 million in 2020, increasing demand for earlier screening and diagnosis, as well as new treatments to address substantial unmet medical needs so patients can continue to live long and healthy lives.

To continue the progress and deliver hope to those battling cancer, biopharmaceutical research companies are working to develop more effective and better tolerated treatments.

A new report today from PhRMA finds that more than 1,300 medicines and vaccines for various cancers are currently in development, either in clinical trials or awaiting review by the U.S. Food and Drug Administration.

New medicines have played a key role in cancer survival gains, much of which are driven by advances in molecular and genomic research that have revealed the unique complexities of cancer and changed our understanding of the disease. Examples of the science behind potential new cancer treatments include:

The more than 1,300 medicines and vaccines in development represent an increased recognition among researchers that no two cancers are alike, which has led to further adoption of personalized medicine and the creation of treatments to target cancers specific to a single person. As researchers continue to explore life-saving methods and technologies to fight cancer, it is important we foster an innovation ecosystem that encourages ongoing research and development in this space.

To read the new report on medicines and vaccines in clinical testing for various cancers, click here.

Learn more about cancer at PhRMA.org/Cancer

SOURCE Pharmaceutical Research and Manufacturers of America (PhRMA)

http://phrma.org

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Report: More than 1,300 Medicines and Vaccines in Development to Help Fight Cancer - PRNewswire

Investigators find clues in large database of Kaiser Permanente members

By Jan Greene

People can look to the Northern European side of their genetic heritage for increased risk of nonmelanoma skin cancer, according to the first large analysis of genetic risk factors for cutaneous squamous cell carcinoma in diverse populations with European ancestry. The study was published Dec. 14 in the journal Communications Biology.

Hlne Choquet, PhD, staff scientist, Division of Research

The authors examined people of varying race and ethnicity who participated in the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH). They focused on the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort, a subgroup of more than 100,000 Kaiser Permanente Northern California members who volunteered their genetic and medical information for research.

We knew that people of European ancestry with lighter skin have a higher risk of cutaneous squamous cell carcinoma, said lead author Hlne Choquet, PhD, a staff scientist with the Kaiser Permanente Division of Research (DOR). We wanted to find out the risk both within and between European ancestry populations and other populations, and whether there are genetic factors involved, and it appears that there are.

Cutaneous squamous cell carcinoma is a common cancer and its incidence is increasing not only in non-Hispanic white people but also in Latinos and Asians. While it is not usually life-threatening, if allowed to grow it can become disfiguring, spread, and even become deadly.

Latinos are complex to study because they may have ancestry deriving from multiple continents; a 2015 study of the GERA cohort by the same research group found most of those who described themselves as Latinos have European genetic ancestry along with Native American ancestry, and some have evidence of African ancestry as well.

Scatter plot shows cutaneous squamous cell carcinoma prevalence by genetic ancestry in GERA cohort; axes reflect first 2 principal components of ancestry.

In this study, the researchers examined records of 11,396 people with cutaneous squamous cell carcinoma and 86,186 control subjects in the GERA cohort and found widely varying risk by race or ethnicity group: 14% for non-Hispanic white people, compared with 3.5% for Latinos, 0.8% for East Asians, and 0.4% for African Americans.

The analysis went on to consider genetically predicted skin pigmentation, genetic risk factors for cutaneous squamous cell carcinoma, and a clinical marker for chronic sun exposure (actinic keratoses). This found that skin pigmentation accounts for a large amount of the difference within and between white people and Latinos, but not all of it. Sun exposure is also a major contributing factor.

For Latinos, the percentage of Northern European ancestry at one particular location in the genome (the SLC24A5 locus) was strongly correlated with cutaneous squamous cell carcinoma risk. The researchers also found that this risk could differ among Latinos, depending on which version of a genetic variant they inherited at the SLC24A5 locus, which is known to influence skin pigmentation.

These findings suggest skin pigmentation alone may not be the primary determinant of cutaneous squamous cell carcinoma in Latinos, but rather the specific genetic factors underlying that pigmentation, said co-author Neil Risch, PhD, an adjunct investigator with DOR and the founding director of the Institute for Human Genetics at the University of California, San Francisco.

This is a striking example of a health disparity due largely to genetics, Risch said. The GERA cohort had limited numbers of East Asian and African American patients with cutaneous squamous cell carcinoma so we could not do a deep genetic analysis in this study but future research should explore these populations to better understand the role of their genetics and environmental exposures. For example, East Asians, who also have fair skin, appear to be strongly protected from the same skin cancer.

Lifestyle factors such as sun exposure, use of sunscreen, and smoking also affect skin cancer risk, as does immunosuppression and use of certain medications.

For clinicians, the research is a reminder that our patients of Latino ethnicity, particularly those with a lighter skin phenotype, are at risk for skin cancer, and would benefit from increased awareness, education, and skin cancer screening initiatives, said senior author Maryam Asgari, MD, MPH, an adjunct investigator with DOR, associate dermatologist at Massachusetts General Hospital, and professor of dermatology and population medicine at Harvard Medical School.

The study was funded by various grants from the National Institutes of Health.

Co-authors also included co-lead author Eric Jorgensen, PhD, a former DOR research scientist; Jie Yin and Catherine Schaefer, PhD, of DOR; and Thomas J. Hoffmann, PhD, Yambazi Banda, PhD, and Mark N. Kvale, PhD, of the UCSF Institute for Human Genetics.

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Unique genetic factors and ancestry, along with lifestyle, influence skin cancer risk - Kaiser Permanente Division of Research

This is part of a four-part series exploring the four facets of the ProShares MSCI Transformational Changes ETF (NYSEARCA:ANEW) ETF: The Future of Work, Genomics and Telehealth, the Digital Consumer and the Food Revolution. Click on other themes where linked to read other installments.

Healthcare has come a long way over the course of human history, but this may be one of the most exciting times in the sector and theProShares MSCI Transformational Changes ETF (NYSEARCA:ANEW) lets investors make their bet on those exciting developments.

Some of these changes are highly technical in nature. For instance, genomics combines our increasingly deep and complex knowledge of human biology with the sheer data-crunching power of technological advances to enable us to understand how a persons genes work and to use that to heal them.

Others are a lot closer to home. The Covid-19 pandemic has made traveling to the doctors office even more awkward and troublesome than before.As taken from ProShares information on the ANEW ETF, According to an April 2020 Harris Poll, 32% of Americans have used telehealth services, doubling since before the outbreak. The shift to telehealth may endure. Indeed, a May 2020 McKinsey & Company study stated that up to $250 billion of current U.S. healthcare spending could potentially be virtualized post-pandemic.

And thats not all. From targeted therapeutics to molecular diagnostics, ANEW digs deep into the cutting edge of the healthcare sector and pulls some of its best prospects together into one fund for investors.

The fund charges an 0.45% expense ratio, or $45 per $10,000 invested annually.

I had a chance to discuss the ANEW ETF with Scott Helfstein, Executive Director of Thematic Investing for ProShares, and talk about how ANEW is letting investors get in on cutting-edge medical advancements.

InvestorPlace: Gene editing can sound scary to some people, but its a market that continues to grow gene editing is expected to grow at a CAGR of 16.6% through 2027, to reach $6.6 billion. What are some of the use cases for this therapy investors might be more familiar with?

Scott Helfstein, Executive Director of Thematic Investing for ProShares: The search for a COVID-19 vaccine is one very salient example right now. Leading vaccine candidates from Moderna (NASDAQ:MRNA) and Pfizer (NYSE:PFE)/Biontech (NASDAQ:BNTX), and other companies use genetic therapy through messenger RNA that essentially delivers photocopied blueprints. This is remarkable, representing a possible turning point in medicine and potentially the first time that genetic medicine is administered at mass scale. The technology could someday be adapted to teach the body to fight off a range of pathogens from cancer to HIV.

The COVID gene-based vaccines are specific sections or strands of genetic code manipulated to include instructions for the human body to produce antibodies capable of fighting off the virus. The vaccine does not edit peoples DNA, an individuals unique code, but uses genetic material as a delivery mechanism. Teaching the body to fight off disease directly by offering instructions at a genetic level is different than using medicine that directly attacks the pathogen or exposes the body to produce an immune response. Companies in ANEW such as Moderna and Novavax (NASDAQ:NVAX) have been exploring mRNA treatment for other areas as well.

There are few examples where treatment focuses on editing underlying human DNA or an individuals core genetic code, but this is still early in development. In 2019, a doctor in China introduced a genetic treatment to human embryos aiming to make twin girls immune to HIV. While this may sound like science fiction, there is a strong possibility that doctors will be able to actually cut out genetic code associated with diseases, perhaps even degenerative diseases like Alzheimers, and replace those genes with healthy code. This type of direct manipulation could play an important role in preventative treatment with companies like CRISPR (NASDAQ:CRSP), Invitae (NYSE:NVTA), and Editas (NASDAQ:EDIT) leading the way.

InvestorPlace: Telehealth has become a vital component of the current healthcare landscape. Obviously the Covid-19 pandemic impacted that transition, but what do you see as the future of this space? What are the companies that stand to particularly benefit?

ProShares:The adoption of Telemedicine is an excellent example of a transformational change in motion before the pandemic that has been accelerated by COVID-19. Can you imagine people actually heading back to their doctors to sit in crowded waiting rooms in future flu seasons? McKinsey reports that in 2019, 11% of U.S. consumers reported use of Telemedicine or Virtual Care services. More recently, 76% of respondents say they are moderately or highly likely to use telehealth going forward

The interesting part is that technology to support telehealth has been in place for years. There were two impediments prior to the pandemic, and COVID appears to have mowed them over. The first is related to policies around reimbursement, as both government and private insurance were not sure how to treat telemedicine. The second was doctor and patient behavior, with both hesitant to take the relationship online. Both of those impediments are may be a thing of the past.

With widespread adoption of video conference for activities from work to family holidays and happy hours, much of the U.S. population has gotten comfortable with communication technology. Telehealth can improve efficiency in healthcare. Teladoc (NYSE:TDOC) has been one beneficiary of the shift to telehealth. The company recently raised its guidance to project 2020 earnings of almost $100 millionmore than triple 2019s results.Medical device makers, such as Abbott Laboratories (NYSE:ABT), that provide instruments continuously monitoring patients are integral to meeting the demand for remote care, as well.

InvestorPlace: Data is vital to healthcare, and big data advances are helping grow the world of genomics. What are some of the leaders in the space, and what does the growth ramp for that area look like?

ProShares:Advances in biotechnology and genomics are in large part due to innovations in data analysis as well as biology. That cannot be overstated. The human genome consists of 20,000 pairs of amino acids, which would amount to a stack of 8.5 x 11 paper that was 200 feet tall. That is a twenty-story building. Biological science plays an important part, but analyzing these massive datasets is critical as well. That is just one example of data in medicine, and not even the low-hanging fruit.

Improving data access, quality, and analytics could help build a more efficient healthcare system from hospitals to individual medical practices. The healthcare industry is estimated to produce 5% of world data, but sector remains one of the least digitized. There is tremendous opportunity to leverage data for supply chain management, imaging, medical alerts, predictive analytics, new therapies, and process optimization. Veeva Systems (NYSE:VEEV), for example, is a cloud-based platform that attempts to streamline data access. IBM has also focused the Watson artificial system on cancer diagnosis. The computer is capable of reading more scans than any doctor can ever see in the course of their lifetimes, and the computer can identify or infer patterns that would otherwise be impossible for humans, hopefully then increasing the diagnostic accuracy.

InvestorPlace: The growth of targeted therapeutics is allowing for better cancer treatments with fewer adverse effects, as compared to typical treatments like chemotherapy and surgery. Do you see more companies breaking into the space? And how far do you expect the sector to expand?

ProShares:Targeted therapeutics or treatments customized based on both patient and disease characteristics, as you note, are increasingly common in cancer treatment. The idea is that targeted or personalized treatment will more effectively address a harmful disease specifically as opposed to traditional therapies targeting all rapidly reproducing cells. An increased emphasis on personalized medicine, which is critically reliant on data analysis, offers the possibility of better patient outcomes delivered more efficiently at lower cost. This is another area in healthcare we believe is still in early stages with significant growth ahead.

There are two main considerations. First, the treatment can be developed to have an optimal impact on diseased tissue while limiting the impact on the rest of the body. Second, drug development should be faster and cheaper since treatments need not be effective or even safe for all people provided they are only administered to those patients most likely to respond well. That could translate to billions in drug development savings. Quark is an interesting example of a company pushing the limits in the field.

InvestorPlace: Molecular diagnostics tests have supplanted a number of traditional testing methods, and have increased accuracy and speed of diagnoses. Can you discuss that?

ProShares:Its startling to hear the term rapid PCR test enter the mainstream media, but this reflects the importance molecular diagnostics which uses genomic scienceto testing for an illness as challenging as COVID-19.

Several hundred diagnostics have been submitted to the World Health Organization for the identification of the novel coronavirus, but only a few dozen of these have been approved for use by major healthcare authorities. Companies like Abbott Laboratories and Roche Diagnostics have seen their tests approved for use in several countries. A smaller company like Twist Bioscience (NASDAQ:TWST) is another example of an innovator in the field.

InvestorPlace: This intersection of science, tech and healthcare is of growing interest to investors. Which subsections and companies should investors be the most excited about in the next 3-5 years?

ProShares:There is a reasonable possibility that we are at the rebirth of healthcare along the lines of Hippocrates or Galen. A decade from now, we may look back and see medicine of late 20thcentury as the dark ages. The combination of genomic technology, diagnostic data, and targeted therapeutics, all powered by advanced data analysis, opens the possibility of preventive medicine and minimally invasive treatment while optimizing patient outcomes. There is a lot to be excited about based on market size and the time to deployment.

Genomics is really fascinating, and maybe a little scary. Delivery of treatment through genetic material like the some of the COVID vaccines as well as human gene editing hold tremendous potential. Companies like Moderna and Novavax have already made great strides in possibly bringing genomic treatment mainstream. COVID accelerated this transition. Editing the human genome is still in early stages but offers the possibility of treating diseases once thought almost incurable. Gene editing companies CRISPR, Editas, and Invitae hold some of the most valuable patents in the field.

On the date of publication, Jessica Loder did not have (either directly or indirectly) any positions in the securities mentioned in this article.

In The InvestorPlace Q&A, weinvite a manager to speak directly to Main Street investors, whether discussing their firms technologies, strategies or investments for the year ahead. Our goal is to put the spotlight on fund managers and other institutional investors of note, providing a detailed look into their management styles, world views and investing strategies.Read past interviews here.

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The InvestorPlace Q&A: Genomics, Telehealth and the Future of Healthcare with the ANEW ETF - InvestorPlace

Locanabio, a San Diego gene therapy company focused on treatments for severe neurodegenerative diseases such as Huntingtons and Lou Gehrigs disease, has raised $100 million in a second round of venture capital funding.

The Torrey Pines Mesa company will use the money for further pre-clinical and clinical development of its proprietary RNA-targeting system to fight degenerative diseases including myotonic dystrophy type 1 and retinal disease, along with Huntingtons and genetic ALS.

Locanabios approach is to combine two methods for treating diseases gene therapy and RNA modification. The platform consists of several RNA-targeting systems that are combined with gene therapy delivery to modify dysfunctional RNA.

The capabilities of the platform could allow Locanabio to develop treatments for a wide range of genetic diseases beyond those on its current roadmap.

This financing positions us to accelerate our efforts to advance multiple promising programs into (new drug) studies in 2021 and to further develop our novel RNA-targeting platform, which has the potential to be a major new advance in medicine that can bring hope to patients with many devastating genetic diseases, said Chief Executive Jim Burns in a statement.

Burns joined Locanabio in December 2019 from Casebia, where he served as the chief executive and led the team in developing CRISPR-based therapeutics to treat blood disorders, blindness and heart disease. Before that, he spent the bulk of his career at Sanofi-Genzyme, where he held several leadership roles.

This latest financing was led by Vida Ventures. Other new investors participating include RA Capital Management, Invus, Acuta Capital Partners and an investment fund associated with SVB Leerink.

Prior investors ARCH Venture Partners, Temasek, Lightstone Ventures, UCB Ventures and Google Ventures also participated. Lonanabio previously raised $55 million in May 2019.

As part of the funding round, Rajul Jain, a medical doctor and director of Vida Ventures, will join Locanabios board of directors.

The unique approach in RNA targeting using gene therapy to deliver RNA binding proteins developed by Locanabio represents the next frontier of genetic medicine with the ability to target the root cause of a range of genetic diseases, said Jain in a statement. They have built a strong management team to execute this bold vision, and we are proud to support them.

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San Diego's Locanabio raises $100 million for treatments aimed at degenerative diseases - The San Diego Union-Tribune

SAN FRANCISCO, Dec. 9, 2020 /PRNewswire/ --Invitae (NYSE: NVTA), a leading medical genetics company, today announced three studies demonstrating the benefits of genetic testing for all breast cancer patients, impacting treatment decisions and cancer screening for patients and their families. The studies, which will be presented at the 2020 San Antonio Breast Cancer Symposium (SABCS), add to the evidence supporting universal access to genetic information for all breast cancer patients.

"It's clear that current guidelines are too restrictive and, as a result, many patients with breast cancer whose care could be improved by access to precision medicine approaches are being missed. Universal testing for all patients with solid tumor cancer, including breast cancer, can help inform treatment and improve outcomes for patients," said Robert Nussbaum, M.D., chief medical officer of Invitae. "These data, taken together with many other studies that demonstrate the utility of universal testing for cancer patients, show the time has come to expand testing guidelines to ensure all breast cancer patients and their families can benefit from incorporating genetic information into their care."

In a prospective, multi-center study of breast cancer patients, one in eight patients had inherited genetic variants that could increase their risk of more aggressive disease and inform treatment choices. Despite the patients having inherited genetic variants, testing rates among patients' families remained low, even when cost was not a barrier. These findings in breast cancer patients were part of a landmark study across various solid tumor cancers recently published in JAMA Oncology.

Findings of a second study at the meeting underscore the impact germline testing can have on patient outcomes. In the longitudinal study, researchers evaluated the clinical outcomes of breast cancer patients who had undergone testing as part of a registry that included patients who met testing criteria and those who did not. Notably, 60% of patients who received targeted chemotherapy based on germline variants were in the group that did not meet testing criteria, highlighting the possibility that certain beneficial treatments and management changes could be inappropriately withheld from patients if restrictive criteria persist.

The third study at the meeting examined select international germline genetic testing criteria from Canada, Australia and the United Kingdom, and its impact on limiting access to testing in patients and their families who may benefit from this information. The study applied the international testing criteria to a cohort of previously tested U.S. breast cancer patients and found that more than 70% of patients with pathogenic variants would have been excluded using current guidelines to allocate germline testing. Furthermore, >80% of the pathogenic variants detected in these out-of-criteria patients were in genes with published management guidelines. This study demonstrates that current international guidelines for genetic testing are overly restrictive and miss actionable findings that could benefit breast cancer patients and their families.

Invitae presentations at 2020 SABCS:

Poster Session 8: Wednesday, December 9 at 8:00 a.m. CT

Spotlight Poster Discussion 10: Friday, December 11, 2020 at 1:00 p.m. CT

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the implications of the studies to be presented at the symposium; the utility of universal access to genetic testing; the impact of germline testing on patient outcomes; the importance of expanding genetic testing guidelines; and the benefits of genetic testing and information. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2020. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://www.invitae.com

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Invitae to Present New Data Supporting Genetic Testing for All Breast Cancer Patients at the 2020 San Antonio Breast Cancer Symposium - PRNewswire