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WISCONSIN RAPIDS They thought their newborn baby was perfect, but a Wisconsin couple soon discovered he had a deadly disease. The FOX6 Investigators found the state of Wisconsin has, so far, declined to test newborns for the rare condition that killed their son.

It's a genetic disorder known as Krabbe disease, which affects fewer than 1 in 100,000 children. Experts say early detection is critical to an affected child's chances of survival. Other states are adding newborn screening for Krabbe, but state officials in Wisconsin say there's not enough research to justify the four-dollar test.

The first day of parenthood is all about nerves, and relief.

"What do I do?!" Kevin Cushman recalls thinking, the day his son, Collin, was born. "'I don't know what to do!' I said, 'Is he OK?' And she said, 'He's perfect.'"

"And he was," said Judy Cushman, Collin's mom. "I mean, he was perfect when he was born. He was perfect."

Kevin always wanted a boy, but he and Judy agreed that's not what mattered most.

"Just as long as they're healthy," he said.

"As long as the child is healthy," Judy repeated. "And I had every reason to believe that my child was going to be healthy."

Ten years later, they can hardly remember thosefirst few months when Collin was just like any other baby.

What they will never forget is when everything changed.

"His whole body is stiff," Kevin says in a home video recorded when Collin was about 9 months old.

That's when Collin's muscles began to get tight. His reactions slowed. He became incessantly irritable. And, eventually, his face fell into an open-mouthed expression that would never go away.

"I remember holding Collin with tears, going, 'What's wrong with my son?'" Kevin said.

The answer was worse than they'd ever imagined. Collin had a rare, genetic disorder known as Krabbe disease. That meant he was going to die at an early age.

"You know, your dreams are shattered," Kevin said.

First, there would be years of tube feedings, vibration machines, and round-the-clock care.

"It was... challenging," Kevin said.

Collin was lucky enough to survive until the age of 9. Most Krabbe children die before they turn 2.

"It's horrifying," said Dr. Barbara Burton, a specialist in genetic medicine at Lurie Children's Hospital of Chicago.

She says Krabbe disease is a form of leukodystrophy that causes the body's nerves to degenerate.

"You lose the coating on the nerve fibers that transmit signals from one nerve cell to another," said Dr. Burton.

"So as the myelin was destroyed, [Collin] slowly lost more and more abilities," his father said.

The disease affects fewer than one in every 100,000 newborns -- perhaps even as few as one in 400,000 -- and there is no cure. There is, however, a way to treat the disease and improve a child's chance of living a longer, more functional life.

"We would've had a totally different boy," Judy said.

The trouble is, the treatment -- a hematopoietic stem cell transplant, or HSCT -- only works to treat Krabbe if it's done within a baby's first 30 days alive. Most parents have no idea their child even has the disease until symptoms surface months later.

"By the time the symptoms show themselves, it's too late," Kevin said. "There's no hope."

In 2018, Dr. Burton joined a team of experts in publishing guidelines that recommend newborns be screened for Krabbe before they leave the hospital. All 50 states already have programs to test newborns for a host of other disorders by pricking the child's heel to draw blood and placing that blood inside circles on a laboratory test card.

"It might just be another circle that they fill out," Kevin Cushman said.

New York was the first state to start testing for Krabbe in 2006, followed by Missouri, Kentucky, Ohio, Tennessee, and Illinois. At least five more states are now working to implement the screening, but so far, Wisconsin has rejected efforts to add Krabbe to the 48 disorders tested for at birth, in part, because there's not enough long-term research to prove the treatment works.

"I hear that argument over and over again, and I think it's ridiculous because the same thing could be said for almost any other condition for which we do newborn screening," said Dr. Burton.

Five years ago, the Cushmans nominated Krabbe disease for inclusion in Wisconsin's newborn screening program, but Chuck Warzecha, deputy administrator for the Wisconsin Division of Public Health, said the test results in too many "false positives."

"There are some risks and emotional impacts on the family when they get that false positive," said Warzecha.

The state's 2015 review of Krabbe testing relied on research that's now more than 10 years old and Dr. Burton says newer testing is more accurate.

"Our technology has gotten much better," said Dr. Burton.

In addition, some Krabbe patients who have gotten transplants are living longer more functional lives.

"We know if it gets detected early that it's treatable," said Senator Patrick Testin, a Stevens Point Republican. He's working on a bill to require Krabbe testing in Wisconsin -- as long as the cost doesn't derail his plan.

"Yeah, that might be a potential roadblock," Testin said.

In 2015, the state said Krabbe screening would cost an extra $300,000 a year, or roughly $4 per test.

"For $4, why wouldn't you?" Judy asked.

"Try to imagine yourself in the shoes of a family who finds out their child has Krabbe disease, and then talk about whether $4 per baby is worth it," Dr. Burton said.

"No child should have to go through this," Kevin said.

Even if Collin had been tested for Krabbe at birth, the Cushmans can't say for sure if they would have gone through with a transplant. The procedure is risky, and some children don't survive.

"I would've given anything to have had that choice," Kevin said. "Even if it didn't change the outcome. As a father, I think I would've felt at least a little more comfortable knowing that I literally did everything I could to save my child."

Of course, the risk of an early death without the transplant is 100%.

On Jan. 6, 2019 -- seven years to the day after Collin was diagnosed -- his father held him for the last time.

"I was gonna hold him as long as it took," he said. "If it took two days before he passed, I was not gonna let go of him."

It's not how the Cushmans imagined things when they welcomed their firstborn child into the world, but they couldn't have asked for a better goodbye.

"Surrounded by family," said Kevin Cushman. "It was perfect."

Krabbe is not on the federal government's recommended list of disorders for newborn screening, but two similar disorders are, including Pompe disease. The state of Wisconsin recently completed a pilot project for Pompe, and they are considering whether to test for it permanently. If they do, DHS says adding Krabbe testing after that would be less expensive than it would have been in the past, because the equipment and training would be similar.

For now, Krabbe is not part of Wisconsin's newborn screening program. The Cushmans intend to keep pushing until it is.

Krabbe is a recessive genetic disorder that is passed down, like blue eyes or attached earlobes. A child is only at risk if both parents are carriers of the mutated gene that causes Krabbe. Even then, there's only a 25% chance the child will get the Krabbe gene from both of them.

Parents can be tested before having a baby to determine if they are carriers of the disease, but -- because it is so rare -- most soon-to-be parents know nothing about it.

Even after Collin was diagnosed, the Cushmans chose to have a second child. This time, they knew there was a 25% risk the second child would have Krabbe. Judy Cushman called it "the worst lottery ever."

Fortunately for them, Kendra Cushman was born without the disease. Five years later, she is symptom free.

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Whats wrong with my son? Wisconsin rejects $4 test for rare, terminal disease - WITI FOX 6 Milwaukee

Brain food: Autism appears to be closely linked to headaches.

Maya23K / iStock

People with autism have more brain-related health problems, such as headaches and epilepsy, than typical people do, according to a survey of twins1. The study is the first to look at associations between autism and physical health problems among twins.

The study found no association between autism and other physical conditions, such as gastrointestinal problems and infectious diseases, however.

I find it particularly remarkable that our results are so clear in terms of confirming that [autism] but also autistic traits are associated with neurological alterations, and no other somatic issues are equally associated, says lead investigator Sven Blte, director of the Center of Neurodevelopmental Disorders at the Karolinska Institutet in Stockholm, Sweden. The findings also support the idea that autism is a condition of the brain, Blte says, and not of the immune system or the gut.

Understanding associations such as these can help clinicians look out for autistic peoples health problems. That is particularly important when treating people who may have difficulties communicating, says Thomas Challman, medical director of the Geisinger Autism and Developmental Medicine Institute in Lewisburg, Pennsylvania.

Associated health issues can be really important in maximizing peoples quality of life, Challman says. If there is a higher rate of various other medical conditions in individuals with a developmental condition, we want to have a higher level of alertness in detecting these things.

The researchers surveyed 172 pairs of twins both identical and fraternal enrolled in the Roots of Autism and ADHD Twin Study Sweden. Of this group, 75 pairs have at least one twin with autism; 18 pairs of identical twins have only one twin with autism. Because identical twins who grow up together share a nearly identical genetic background and environment, they are particularly helpful in teasing out how these factors can shape an individuals health.

The researchers gave the participants, who ranged in age from 8 to 31 years, diagnostic exams and the Social Responsiveness Scale, Second Edition, a standard survey of autism traits. The participants or their parents then filled out a questionnaire that asked about the participants history of infectious and cardiovascular diseases, neurological problems such as epilepsy and headaches, gastrointestinal problems such as lactose intolerance, and immunological conditions such as asthma and allergies.

The researchers found that people with an autism diagnosis have more neurological and immunological health problems than those without the diagnosis. They also found that within identical twin pairs in which only one twin has autism, the twin with more neurological problems is more likely to be autistic than the neurotypical twin is.

In their analysis, the researchers weighted common problems such as headaches as equal to rarer problems such as heart defects. This approach may have affected the results, so the team should confirm the finding in a larger sample size, says Lior Brimberg, who was not involved in the research. Brimberg is assistant professor of neuroimmunology at the Feinstein Institute for Medical Research in Manhasset, New York.

The researchers also did not control for age or gender.

The fact that the study did not find an association between autism and gastrointestinal problems is surprising, notes Barbara McElhanon, assistant professor of pediatric gastroenterology at Emory University in Atlanta, Georgia, and a clinician at Childrens Healthcare of Atlanta.

The study may have missed this association because gastrointestinal problems, such as constipation, tend to be transient, she says, and may be more easily forgotten when responding to questionnaires than are persistent conditions such as epilepsy. Only 1.2 percent of the participants with autism and 0.8 percent of those without autism reported experiencing constipation both at the low end of prevalence estimates in the general public, which range from 0.7 to nearly 30 percent.

The study is also important in evaluating how much of autism and its traits are heritable versus environmental, Brimberg says.

Because identical twins share nearly all of their DNA, the association between autism and neurological problems in identical twins suggests that something beyond genetics, such as an interaction between genes and the environment, is at play in the origin of both conditions, Brimberg says.

Theyre almost sharing the same environment, theyre almost sharing the same genetics, and you still dont see 100 percent penetration of [autism], Brimberg says.

Brimberg notes that a study in July concluded that autism is 80 percent heritable2. I think this study suggests that, you know, not necessarily, she says.

The researchers hope to analyze a larger database, such as the Child and Adolescent Twin Study in Sweden, which has more than 32,000 participants. Ultimately, they say, they hope their work will help scientists identify autism subtypes and pathways that underlie the condition.

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Autistic people have increased incidence of neurological problems - Spectrum

SALT LAKE CITY, Jan. 22, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, announced that it has submitted a supplementary premarket approval (sPMA) application to the U.S. Food and Drug Administration (FDA) for its myChoice CDx test to help predict outcomes of women with first-line platinum responsive advanced ovarian cancer treated with GSKs PARP inhibitor Zejula (niraparib). Myriads filing is based on the positive results from the Phase 3 PRIMA trial of Zejula that was published online in the New England Journal of Medicine in September 2019.

The myChoice CDx test provides valuable molecular insights into tumors and helps identify women with ovarian cancer who are most likely to benefit from PARP inhibitors, said Nicole Lambert, president, Myriad Oncology. This regulatory submission represents another important step forward for precision medicine and ensuring that women have access to the most advanced therapies.

Myriad's myChoice CDx is the most comprehensive homologous recombination deficiency test, enabling physicians to identify patients with tumors that have lost the ability to repair double-stranded DNA breaks, resulting in increased susceptibility to DNA-damaging drugs such as platinum drugs or PARP inhibitors. The myChoice CDx test comprises tumor sequencing of the BRCA1 and BRCA2 genes and a composite of three proprietary technologies (loss of heterozygosity, telomeric allelic imbalance and large-scale state transitions).

About Ovarian CancerOvarian cancer affects approximately 22,000 women per year in the United States according to the American Cancer Society. Typically, ovarian cancer is diagnosed at later stages when it has metastasised to other areas of the body and only 20 percent of patients are diagnosed with early stage disease. Ovarian cancer is one of the deadliest cancers with approximately 14,000 deaths per year attributed to the disease. Patients with certain characteristics such as a family history of the disease, certain genetic mutations such as those in the BRCA1 and BRCA2 genes, obesity and endometriosis face a higher risk from ovarian cancer.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

GSK is commercializing ZEJULA. ZEJULA is a registered trademark of GSK.

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 women getting access to the most advanced therapies; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

Excerpt from:
Myriad Submits sPMA for myChoice CDx with Zejula in First-Line Platinum Responsive Advanced Ovarian Cancer - GlobeNewswire

January 23, 2020 - A Croatian group of scientists from the St. Catherine Special Hospital participated in the publication of yet another remarkable scientific paper, this time explaining the concept of pharmacogenomics testing based on the principles of artificial intelligence.

"Pharmacogenomics" is one of the world's leading scientific publications in the field of pharmacogenomics (PGx) and their latest issue included an article titled "Pharmacogenomics at the center of precision medicine: challenges and perspective in an era of Big Data".

The authors are a group of the Croatian and American scientists, led by Professor Dragan Primorac, who propose the model of the systematic introduction of PGx testing into clinical practice. Along with that, they propose the implementation of the concept into the health systems of various countries, using Artificial Intelligence (AI) models, as well as some sub-systems within the AI framework, such as so-called Machine Learning.

Through the specific algorithms analysing the data, the patients' data is compared with all the data already deposited in large databases (using the Big Data approach), with the goal of optimising diagnostic procedures, the prevention of disease on time, and personalised treatment. Unlike the typical model of machine learning where the algorithms are defined by certain parameters based on expert knowledge, the concept of AI primarily uses the neural networks, continually evaluating a large amount of data and processing it in a similar manner to human thinking.

Pharmacogenomics analyses a whole series of genes, or even the entire genome, and then studies the connections between the genetic predisposition of an individual and their reaction to a drug. It helps understand why some people respond to some medicines while others don't, why some people need to have the doses of their medicines adjusted to get the perfect therapeutic response, and it can even warn you if a patient won't respond to therapy at all or even when someone will experience toxic side effects.

The model proposed in the paper is based on the experiences by the St. Catherine Hospital and the PGx testing it has been performing in cooperation with OneOme American company (a spin-off company of the famous Minnesotan Mayo Clinic).

The testing uses the RightMed system and analyses 25 genes at the same time (CYP1A2, CYP2B6, CYP2C9, CYP2C19, the CYP2C cluster, CYP2D6, CYP3A4, CYP3A5, CYP4F2, COMT, DPYD, DRD2, GRIK4, HLA-A, HLA-B, HTR2A, HTR2C, IFNL4, NUDT15, OPRM1, SLC6A4, SLCO1B1, TPMT, UGT1A1, VKORC1), which are responsible for the synthesis of the enzymes important for the drug's metabolism (especially the genes of the enzymatic system of cytochrome P450), transport proteins, receptors, other proteins important for the functioning of drugs, as well as those from the HLA system, which is important for the reactions of oversensitivity to medicines.

The system allows for the prediction of the response of each patient for over 300 of the most frequently used medicines, and so the patients are given the possibility to find the one which will help them best. All of the algorithms used in the system related to the use of the genetic information and the selection of the drug and its dosage are following the Clinical Pharmacogenetics Implementation Consortium(CPIC) guidelines.

The algorithm of the analysis of genes responsible for the drug metabolism of each patient will sort them into five categories of metabolizers: slow, intermediary, normal, fast or very fast. The paper also includes a very detailed SWOT (Strength, Weakness, Opportunity, Threat) analysis of the proposed strategy, which can lead to a significant new step in the development of modern medical sciences.

The importance of the introduction of PGx methods into routine clinical practice is best confirmed by the information recently published in the leading American medical sciences journal, JAMA, in which it was said that in the US, more than 2 million hospitalized patients have serious side-effects from the drugs they were given annually, and over 100.000 of them die. Some estimate that the number is even higher today. Today, side-effects from drugs constitute the fourth cause of mortality in all populations. In the US, the health system spends 136 billion dollars a year to mitigate the damage done by the side-effects of drugs. European data shows that between 7 and 13 percent of patients get admitted into hospitals because of the side-effects of drugs, and 30 to 50 percent of patients do not respond to therapy at all.

Professor Dragan Primorac said that the "right therapy for the right patient at the right time" is the key phrase of personalized medicine, however that can't be achieved without an insight into the molecular status of the patient.

Our goal is to reduce the morbidity caused by the side-effects of drugs to the lowest possible level, as well as to integrate pharmacogenomics through the concept of AI with all the other diagnostic procedures into an integrated system which will lead to the optimisation of diagnostic and therapeutical procedures.

The proposed concept of the integration of PGx methods into clinical practice, developed by the scientists from the St. Catherine Special Hospital and the OneOme company, has attracted huge interest on the world's health market, and the first implementation of the model outside of Croatia is soon to start in German health institutions.

More here:
St. Catherine Hospital Scientists on Pharmacogenomics and Artificial Intelligence - Total Croatia News

Image: The ICR's Dr Valeria Cazzaniga in the lab

With the turn of a new decade many people are looking at the best things that came out of the last 10 years, from films, music and gadgets to the most innovative medical advances. But amongst all the retrospection, others are choosing to look ahead.

Recently, I attended the launch of a new reportpublished by University College London(UCL) aiming to set the agenda for cancer research and care in the 2020s. The report argues that over the next few years, our ability to better control cancer will not be the result of one or two major breakthroughs, but the accumulation of incremental advances in many different areas.

One reference I loved from the report was how the worldwide pursuit of better cancer treatments is arguably the biggest scientific project in history, dwarfing even the US moon landings of the 70s, and its true I can't fit all of the really exciting things coming for cancer over the next 10 years into one blog post!

Instead, Ive picked three topics mentioned in the report that have the potential to be instrumental for better cancer control in the next decade, and what the ICR is already doing to help.

Alongside its report, UCL surveyed more than 2,000 people about their attitudes towards cancer research and treatment in 2019. Perhaps not surprisingly, given that one in two of us will be diagnosed with the disease in our lifetime, half of the British population believe that tackling cancer is their biggest public health priority.

But, will there ever be a cure for cancer? This question gets asked of our researchers often, and was addressed in a recent blog postby our CEO, Professor Paul Workman. Cancer is a disease made up of more than 200 main types, and a plethora of other molecular subtypes, so its unlikely we will ever have a single cure.

During the report launch, Professor Charles Swanton of the UCL Cancer Institute spoke of the success of the past 20 years in understanding more about the complexity, diversity and instability of cancers and how they evolve to develop drug resistance.

Cancer evolution is the cause of a vast majority of cancer deaths, and at The Institute of Cancer Research, it will be a central area of focus over the next decade.

While we share the goal of patients and the public in wanting cancer to be completely cured, focusing exclusively on curing cancer can risk overlooking some of the amazing progress that has already been made in the field with statistics showing that the average length of survival from cancer approximately doubled over a 10-year period as new targeted drugs, combination treatments and immunotherapies begin to improve long-term control.

As we begin the new decade, the ICR is launching the worlds first Darwinian drug discovery programme, within our new Centre for Cancer Drug Discovery, aimed at achieving further dramatic improvements in the proportion of patients whose disease can be controlled long term, as well as increasing the chances that patients will be cured.

We are building a new state-of-the-art drug discovery centre to develop a new generation of drugs that will make the difference to the lives of millions of people with cancer. Find out more about the Centre and about how you can help us finish it.

The Centre for Cancer Drug Discovery

At the ICR, our scientists are changing the way we think about cancer. We are combining advanced DNA sequencing and image analysis with evolutionary theory, mathematical modelling and artificial intelligence to understand and predict how cancers mutate and adapt to resist treatment.

The aim is to stay one step ahead of cancer, by creating new treatment strategies that anticipate, prevent and overcome evolution and drug resistance.

Advances in the technology to read peoples DNA have made it possible to sequence a patients whole genome or that of their tumour quickly and cheaply. That can allow researchers to predict how cancer will respond to treatment and to select the drug that is most appropriate for a patient and their tumour.

It is also increasingly possible to assess a persons risk of cancer by looking at their genetic information. These scientific advances are matched by a public appetite for genetics, which has seen enthusiastic participation in pilot studies and rather more controversially increased interest in direct-to-consumer genetic tests.

The Government have responded to increased knowledge of and interest in genetics with the imminent rollout of the NHS Genomic Medicine Service, which will embed genetic testing into primary care for the first time in the UK. The service will allow healthcare professionals to personalise treatments and interventions more than ever before.

The data gathered from this extensive testing will also be available for research once it has been anonymised so scientists can better understand cancer and its evolution. Its safe to say the Genomic Medicine Service is promising big things, and the NHS aims to embed genetic testing into routine healthcare by 2025 so watch this space!

One innovative way researchers at the ICR are using genetics to tailor cancer treatment is by looking at circulating tumour DNA DNA that has shed from tumours and circulates in the blood stream of a patient.

Circulating tumour DNA can be identified through a blood test, which is less painful than standard tissue biopsies and can often be a quicker and easier way to investigate tumour development in a patient and monitor treatment success. Results have been extremely promising.

One example is the plasmaMATCH clinical trial early results of which were released in December. In that study, ICR researchers looked at whether a blood test could detect traces of genetic faults that are known to drive breast cancer.

The study was so successful, scientists believe it is reliable enough to be routinely used by doctors in the clinic once it has passed regulatory approval.

As we learn more about cancers genetics and evolution, we start to understand the reasons for something that has been known for a long time that the more a cancer has progressed, the harder it is to treat. And that in turn is placing an increased emphasis on research to understand how cancer can be detected earlier or even prevented in the first place.

One way cancer can be detected earlier is by setting up dedicated screening programmes such as those that exist for breast cancer, bowel cancer and cervical cancer. The report from UCL called for enhanced screening programmes to improve early detection of lung cancer, but screening also has the potential to benefit many more cancer types in the future.

While screening programmes are estimated to save 10,000 lives a year in the UK through prevention and early diagnosis, there is also evidence that they are not reaching their full potential.

People live busy lives, and uptake of screening appointments is not as high as the Government would like. To address this, ministers asked Professor Sir Mike Richards, a former national cancer director, to review adult screening programmes in England.

One of the reviews key recommendations called for a new organisation to be set up that is able to manage all cancer screening under one roof. This could avoid unnecessary delays where multiple organisations are managing different aspects of the screening pathway, and might ensure accountability when things dont run smoothly.

Sir Mike also highlighted the value of targeted screening in his review. Targeted cancer screening programmes aim to identify people in the population who may have a higher risk of developing certain cancers based on factors such as genetics, lifestyle and environment. This information allows healthcare professionals to tailor screening programmes for smaller groups of people.

One example of this is with PSA testing in men which, while not proven useful in the general population, has been shown to be more effective in a smaller population of men those with a fault in their BRCA2 gene.

This research, from the IMPACT study, was conducted by researchers at the ICR. Regular screening using this test in men who have this particular gene fault could help identify those at risk of prostate cancer far sooner than current methods of diagnosis.

Targeted screening based on factors such as an individuals genetic profile will not only save the NHS money, but will avoid subjecting large numbers of people to unnecessary medical appointments.

Its an exciting time to work in the field of cancer research and treatment, and it seems pretty clear that the next 10 years are going to bring some revolutionary advances.

This blog post has highlighted just three areas where there are being dramatic advances I havent, for example, touched upon the great strides being made in areas such as precision radiotherapy, advanced imaging or AI.

Check back here in 2030, when Ill be doing a round-up of the best advances in cancer research from the last decade

Here is the original post:
Science Talk - What's coming for cancer in the 2020s - The Institute of Cancer Research

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Thermo Fisher ScientificEditas MedicineCaribou BiosciencesCRISPR therapeuticsIntellia therapeutics, Inc.CellectisHorizon Discovery PlcSigma AldrichPrecision BiosciencesGenscriptSangamo Biosciences Inc.Lonza Group LimitedIntegrated DNA TechnologiesNew England BiolabsOrigene Technologies

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Genome EditingGenetic engineeringGRNA Database/Gene LibrarCRISPR PlasmidHuman Stem CellsGenetically Modified Organisms/CropsCell Line Engineering

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Global CRISPR And CRISPR-Associated Genes Market Insights 2019 Thermo Fisher Scientific, Editas Medicine, Caribou Biosciences, CRISPR therapeutics,...

USP18 deficiency is a rare genetic disorder that affects inflammation. It occurs in fewer than 1 in 1 million births.

A child with a rare genetic disorder called USP18 would normally be expected to survive for no more than a few weeks.

But thanks to the collaborative efforts of physicians and researchers in Saudi Arabia, France, and the United States, a young boy with this disease is now 3 years old and in remission.

USP18 deficiency is a rare genetic disorder that affects inflammation. It occurs in fewer than 1 in 1 million births.

In a report published earlier this week in The New England Journal of Medicine, members of this international team describe how they used supportive clinical care, rapid genetic diagnosis, and prompt treatment with a novel anti-inflammatory drug to keep the boy alive.

Such collaborative efforts are very important for managing rare disorders like USP18 deficiency, Dusan Bogunovic, PhD, co-corresponding author of the case report and an associate professor of microbiology and pediatrics at the Icahn School of Medicine at Mount Sinai in New York, told Healthline.

I dont think this can be stressed enough, he said.

Rare diseases by definition cannot be managed alone. Each requires expertise that very few people on the planet have, he continued.

Researchers in Bogunovics lab first described USP18 deficiency in 2016 as part of their work on rare inflammatory diseases in children.

They identified a very rare genetic mutation of the ubiquitin-specific peptidase 18 gene, which plays a role in regulating inflammation.

Mutations in this gene cause out of control inflammation that usually proves to be fatal in utero or shortly after birth.

Babies [with USP18 deficiency] present with what appears to be an infection but dont respond to antibiotics or antivirals, Bogunovic explained.

They have problems breathing. They have accumulation of fluid in the brain. They look like they are severely inflamed, he continued.

The boy in Saudi Arabia developed these problems in the first weeks of his life. He didnt recover after antibiotic and antiviral treatments.

After keeping him alive for months with supportive clinical care, physicians at King Saud University reached out to Bogunovic for help.

This was the start of a fruitful collaboration, in which experts across multiple institutions and countries worked together to rapidly develop a diagnosis and treatment plan.

To unravel the mystery of the boys symptoms, scientists conducted rapid genetic sequencing and protein testing.

These tests allowed the scientists to quickly identify a mutation in the USP18 gene that was interfering with protein function in the boys body.

Armed with this knowledge, they decided to try treatment with ruxolitinib. This oral drug belongs to a class of medications known as JAK inhibitors, which have potent anti-inflammatory effects.

After some trial and error, the boys treatment team found an effective dosage of the drug. Within 2 weeks, his symptoms began to quickly improve. Now, after 2 years of treatment, he remains symptom-free.

We showed that even with a disease like USP18 deficiency, sound clinical care and timely drug administration can rescue patients from what was previously considered a death sentence, Bogunovic said in a press release.

The teamwork between our two institutions and others around the world is a textbook case of science without borders, he added.

This case highlights the role that rapid genetic diagnosis can play in the management of not just USP18 deficiency, but also in the management of other rare genetic diseases.

To find the mutation that was responsible for the boys symptoms in Saudi Arabia, Bogunovics team used a next-generation method of genetic analysis known as whole exome sequencing.

Exome sequencing is a cost-effective DNA sequencing strategy that focuses on detecting genetic variants in the most critical regions of the human genome, the regions that contain genes and code for proteins, Stephen Montgomery, PhD, an associate professor of pathology and genetics at Stanford University, told Healthline.

This method relies on new technologies that allow scientists to rapidly sequence all of the bits of DNA that provide instructions for producing proteins. Those particular segments of DNA are known as exons. Together, they comprise a persons exome.

If a doctor or researcher wants to quickly sequence an individuals entire genome rather than just the exome, they can use a method known as whole genome sequencing.

Together these methods of rapid testing have revolutionized the diagnosis and management of rare genetic diseases.

Compared to more traditional methods of genetic sequencing, whole exome sequencing and whole genome sequencing are much less time consuming.

And although these tests arent cheap, they tend to be less expensive than the battery of specialist appointments and lab tests that patients might otherwise need to get to the bottom of a mysterious illness.

The way it used to work was, youd go see a specialist and they would order a test, and youd go see another specialist, and they would order a test and since there are over 10,000 genetic diseases, you can imagine that thats a lot of office visits, Dr. Stephen Kingsmore, president and CEO of Rady Childrens Institute for Genomic Medicine at Rady Childrens Hospital in San Diego, California, told Healthline.

Instead of that long diagnostic odyssey, doctors can now order a single sequencing test to check for every known genetic disease.

Instead of taking years to find out the rare genetic cause of a childs condition, you can now decode their genome in a day, Kingsmore said.

Make an immediate diagnosis, nip the disease in the bud, and get the appropriate treatment on board immediately, he said.

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How Doctors from Across the Globe Saved an Infant with Months to Live - Healthline

A rare, fatal genetic disease is treated with an existing immunotherapeutic drug.

Chest radiography after two months of ruxolitinib therapy showed sufficient improvement for weaning off of mechanical ventilation.The New England Journal of Medicine 2020 A three-year-old Saudi boy is in full remission from a fatal gene deficiency following treatment with a known immunotherapeutic drug. USP18 deficiency is an extremely rare genetic disorder that impairs the immune system, with prominent symptoms including respiratory failure, accumulation of fluid in the brain, and inflammation throughout the body.

We are in the renaissance period when it comes to rapid genetic diagnosis and experimental treatment of inherited disorders, says associate professor of paediatrics Dusan Bogunovic of the Icahn School of Medicine at Mount Sinai, New York. Now we know that USP18 deficiency is treatable with JAK inhibitors, if detected early.

In healthy individuals, the USP18 (ubiquitin-specific peptidase 18) gene codes for an enzyme that inhibits a part of the immune system called interferon signalling, curbing excessive inflammation. USP18 enzyme deficiency leads to abnormal inflammation across multiple tissues. The Saudi child was diagnosed with complete absence of USP18, and had been kept alive through extraordinary medical care by physicians in Saudi Arabia. Genetic and biochemical tests confirmed that oral administration of ruxolitinib, a Janus kinase (JAK) inhibitor drug used for treating certain bone marrow disorders, would be suitable for regulating the childs inflammation.

Within two months of ruxolitinib therapy, the boy was well enough to be weaned off of mechanical ventilation and is now, two years into therapy, in full remission of the clinical signs of the disorder. He is receiving follow-up treatment from an outpatient clinic and continues to grow normally, albeit with slower progress in his developmental milestones, the researchers say. The child will likely need to take ruxolitinib for the rest of his life.

Consultant paediatrician Abdullah Alangari at King Saud University, Saudi Arabia, says the study is a very good example of the value of international collaboration in helping critically ill patients and in advancing science.

Rare diseases cannot be managed alone, adds Bogunovic. Each requires expertise that very few people on the planet have, he says, commending the joint work by researchers in Saudi Arabia, France and the USA.

The clinical case study represents a significant milestone, says immunologist John Teijaro of Scripps Research Institute, USA, who was not involved in the study. This success should pave the way for utilizing ruxolitinib and other JAK inhibitors to treat additional autoimmune diseases where heightened interferon or cytokine signalling drive pathological manifestations.

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Research focuses on precisely how the disease develops in the brain

Anne Fagan, PhD, supervises staff scientist Matthew R. Amos as he analyzes samples for molecular signs of Alzheimer's disease. Fagan leads one arm of a long-running, international Alzheimers study aimed at understanding how the disease develops and progresses. Researchers at Washington University School of Medicine in St. Louis have received $29 million to continue the study known as the Dominantly Inherited Alzheimer Network for another five years.

For more than a decade, Washington University School of Medicine in St. Louis has led an international effort to better understand Alzheimers disease by studying people with rare genetic mutations that cause the disease to develop in their 50s, 40s or even 30s. The researchers have shown that the disease begins developing two decades or more before peoples memories begin to fade, as damaging proteins silently accumulate in the brain.

Now, the National Institute on Aging of the National Institutes of Health (NIH) has committed $29 million to support the effort known as the Dominantly Inherited Alzheimer Network (DIAN) for another five years, pending availability of funds. With the new funding, the network will add three new research initiatives to investigate more closely the changes that occur in the brain as the disease develops, which could lead to new ways to diagnose or treat Alzheimers.

The extraordinary accomplishments of the DIAN investigators and participants over the past decade have set the stage to understand the molecular changes that can cause Alzheimers disease, said DIAN director Randall J. Bateman, MD, the Charles F. and Joanne Knight Distinguished Professor of Neurology. The three new scientific projects will provide deep insights into how Alzheimers disease begins and progresses to dementia.

DIAN follows families with genetic mutations that all but guarantee that those who inherit the mutations will develop Alzheimers disease at young ages. While devastating for families, this genetic form of Alzheimers disease creates a rare opportunity for researchers to look for brain changes long before symptoms appear in people who carry such mutations, compared with their relatives who dont have the mutation.

Although the study follows only people with a rare genetic form of Alzheimers, its findings could apply to the millions of people living with the much more common late-onset Alzheimers, which appears after age 65. The brain changes that lead to memory loss and confusion are thought to be much the same in early- and late-onset Alzheimers.

Since the network was established in 2008, DIAN researchers have established 19 sites in eight countries representing North and South America, Europe, Asia and Australia with another five sites in four Latin American countries in the works. People from families with genetic forms of Alzheimers take part in observational studies to track changes to their brains over time. The network also has established a clinical trials unit to test investigational therapies to prevent or treat the disease.

Participants undergo assessments of their memory and thinking skills, provide DNA for genetic analysis, undergo brain scans, and give blood and cerebrospinal fluid so researchers can look for molecular signs of Alzheimers disease. With the help of such participants, researchers have begun to piece together a timeline of the brain changes that culminate in cognitive decline and dementia. First, the protein amyloid beta starts forming plaques in the brain up to two decades before symptoms arise. Later, tangles of tau protein form, and the brain begins to shrink. Only then do signs of confusion and forgetfulness appear.

In addition to supporting ongoing research efforts, the grant funds three new projects:

The study described in this press release is supported by the National Institute on Aging of the National Institutes of Health (NIH) under award number U19AG032438. The grant from the National Institute on Aging provides 95.4% of the funding for this study, with the remainder provided by the Alzheimers Association (3.3%) and a consortium of pharmaceutical companies (1.3%). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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$29 million for new phase of international Alzheimer's study Washington University School of Medicine in St. Louis - Washington University School of...

NUTLEY, N.J., Jan. 17, 2020 /PRNewswire/ --Genomic medicine's groundbreaking treatments, and its future promise, will be the focus of a full-day symposium at the Hackensack Meridian Health Center for Discovery and Innovation (CDI) on Wednesday, February 19.

This emerging discipline for tailoring active clinical care and disease prevention to individual patients will be the focus of presentations given by eight experts from medical centers in the U.S.A. and Canada.

"The Genomic Medicine Symposium convenes a diverse group of scientific experts who help serve as a vanguard for precision medicine," said David Perlin, Ph.D., chief scientific officer and vice president of the CDI. "At the Center for Discovery and Innovation, we are working to make genomics a central component of clinical care, and we are delighted to host our peers and partners from other institutions."

"The event is one-of-a-kind," said Benjamin Tycko, M.D., Ph.D., a member of the CDI working in this area, and one of the hosts. "We are bringing together great minds with the hope it will help inform our planning for genomic medicine within Hackensack Meridian Health and inspire further clinical and scientific breakthroughs."

Cancer treatments, neuropsychiatric and behavioral disorders, cardiometabolic conditions, autoimmune disease, infectious disease, and a wide array of pediatric conditions are areas where DNA-based strategies of this type are already employed, and new ones are being tested and refined continually.

The speakers come from diverse medical institutions and will talk about a variety of clinical disorders in which prevention, screening, and treatment can be informed through genomic and epigenomic data.

Among the speakers are: Daniel Auclair, Ph.D., the scientific vice president of the Multiple Myeloma Research Foundation; Joel Gelernter, M.D., Ph.D., Foundations Fund Professor of Psychiatry and Professor of Genetics and of Neuroscience and Director, Division of Human Genetics (Psychiatry) at Yale University; James Knowles, M.D., Ph.D., professor and chair of Cell Biology at SUNY Downstate Medical Center in Brooklyn; Tom Maniatis, Ph.D., the Isidore S. Edelman Professor of Biochemistry and Molecular Biophysics, director of the Columbia Precision Medicine Initiative, and the chief executive officer of the New York Genome Center; Bekim Sadikovic, Ph.D., associate professor and head of the Molecular Diagnostic Division of Pathology and Laboratory Medicine at Western University in Ontario; Helio Pedro, M.D., the section chief of the Center for Genetic and Genomic Medicine at Hackensack University Medical Center; Kevin White, Ph.D., the chief scientific officer of Chicago-based TEMPUS Genetics; and Jean-Pierre Issa, M.D., Ph.D., chief executive officer of the Coriell Research Institute.

The event is complimentary, but registration is required. It will be held from 8 a.m. to 4:30 p.m. at the auditorium of the CDI, located at 111 Ideation Way, Nutley, N.J.

The event counts for continuing medical education (CME) credits, since Hackensack University Medical Center is accredited by the Medical Society of New Jersey to provide continuing medical education for physicians.

Hackensack University Medical Center additionally designates this live activity for a maximum of 7 AMA PRA Category 1 Credit TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

For more information, visit https://www.hackensackmeridianhealth.org/CDIsymposium.

ABOUTHACKENSACKMERIDIAN HEALTH

Hackensack Meridian Health is a leading not-for-profit health care organization that is the largest, most comprehensive and truly integrated health care network in New Jersey, offering a complete range of medical services, innovative research and life-enhancing care.

Hackensack Meridian Health comprises 17 hospitals from Bergen to Ocean counties, which includes three academic medical centers Hackensack University Medical Center in Hackensack, Jersey Shore University Medical Center in Neptune, JFK Medical Center in Edison; two children's hospitals - Joseph M. Sanzari Children's Hospital in Hackensack, K. Hovnanian Children's Hospital in Neptune; nine community hospitals Bayshore Medical Center in Holmdel, Mountainside Medical Center in Montclair, Ocean Medical Center in Brick, Palisades Medical Center in North Bergen, Pascack Valley Medical Center in Westwood, Raritan Bay Medical Center in Old Bridge, Raritan Bay Medical Center in Perth Amboy, Riverview Medical Center in Red Bank, and Southern Ocean Medical Center in Manahawkin; a behavioral health hospital Carrier Clinic in Belle Mead; and two rehabilitation hospitals - JFK Johnson Rehabilitation Institute in Edison and Shore Rehabilitation Institute in Brick.

Additionally, the network has more than 500 patient care locations throughout the state which include ambulatory care centers, surgery centers, home health services, long-term care and assisted living communities, ambulance services, lifesaving air medical transportation, fitness and wellness centers, rehabilitation centers, urgent care centers and physician practice locations. Hackensack Meridian Health has more than 34,100 team members, and 6,500 physicians and is a distinguished leader in health care philanthropy, committed to the health and well-being of the communities it serves.

The network's notable distinctions include having four hospitals among the top 10 in New Jersey by U.S. News and World Report. Other honors include consistently achieving Magnet recognition for nursing excellence from the American Nurses Credentialing Center and being named to Becker's Healthcare's "150 Top Places to Work in Healthcare/2019" list.

The Hackensack Meridian School of Medicine at Seton Hall University, the first private medical school in New Jersey in more than 50 years, welcomed its first class of students in 2018 to its On3 campus in Nutley and Clifton. Additionally, the network partnered with Memorial Sloan Kettering Cancer Center to find more cures for cancer faster while ensuring that patients have access to the highest quality, most individualized cancer care when and where they need it.

Hackensack Meridian Health is a member of AllSpire Health Partners, an interstate consortium of leading health systems, to focus on the sharing of best practices in clinical care and achieving efficiencies.

For additional information, please visit http://www.HackensackMeridianHealth.org.

About the Center for Discovery and Innovation:

The Center for Discovery and Innovation, a newly established member of Hackensack Meridian Health, seeks to translate current innovations in science to improve clinical outcomes for patients with cancer, infectious diseases and other life-threatening and disabling conditions. The CDI, housed in a fully renovated state-of-the-art facility, offers world-class researchers a support infrastructure and culture of discovery that promotes science innovation and rapid translation to the clinic.

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A survey of industry professionals states they expect immuno-oncology therapies and personalised medicines to continue to shape the pharmaceutical industry in the coming year.

An outlook report suggests that industry stakeholders expect immuno-oncology and personalised medicine to be the most impactful trends shaping the pharmaceutical sector in 2020.

Claire Herman, Global Director of Therapy Analysis and Epidemiology at GlobalData which compiled the research report, revealed: For the second consecutive year, our survey found that a majority of respondents believe that immuno-oncology or personalised medicine are the top trends to watch, with 40 percent and 34 percent, respectively, selecting them as the most impactful areas of investment and innovation.

Herman added: Immuno-oncology drugs have become increasingly well-established as a pillar of cancer care. This growth has been driven by regulatory approvals in a range of new indications, a slew of development and marketing partnerships and exploration of new combination treatment strategies.

a majority of respondents believe that immuno-oncology or personalised medicine are the top trends to watch

Fern Barkalow, GlobalDatas Senior Director of Oncology and Hematology, explained: As the mechanisms underlying the action of various immuno-oncology combination approaches become better elucidated, these drugs will gain further traction in the treatment paradigms of a variety of cancers in 2020, moving into earlier lines of therapy, as well as demonstrating success in those cold tumours previously resistant to immuno-oncology treatment.

A range of pipeline products entering late-stage development in the personalised medicine market during 2020 should also drive similar growth in this field. Industry experts suggest personalised medicine is set to hit milestones such as trial completion and regulatory filings.

Herman continued that there is great enthusiasm for a change in treatment strategies towards an individualised, patient-centric disease management approach. She also stated that while R&D in these areas has seen some setbacks, overall expectations are extremely high across a range of disease areas, from oncology to neurology to rare genetic disorders Investment in targeted therapeutics has been building for over a decade, with no end in sight.

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Immuno-oncology and personalised medicine to drive pharma in 2020 - European Pharmaceutical Review

Centre for Cellular and Molecular Biology has brought the researchers together from both the United States and India, to work together in order to understand genetic diseases and their basis, among some other ethnic populations from other parts of the world to work for the workshop on Human Diversity and Health Disparities. This three days workshop started this Thursday.

Researchers will be deliberating on the topics of genetic and also the epigenetic basis of the various forms of diabetes, cancer, neurological and also heart diseases in USA and in South Asia during the meet-ups. There will be also be a focused and a detailed discussions on personalized medicine and their advancements in the field of technologies to make its access possible for the nations.

Dr Keshav Singh, from the University of Alabama, Birmingham and Dr Thangaraj from CCMB, who were the Co-convenors of the meeting stated that the existing data on the genetic diseases that we have at this moment, is mostly based on the European populations and for the personalized medicine for such diseases to progress, it is important to understand these population and their specific genetics.

The workshop is currently being attended by almost 200 researchers mostly from India and US, where many of them are PhD scholars from promising universities, research institutes, hospitals and the life science companies that are based in both India and in the USA.

Rakesh Mishra, CCMB director said that the Variation in population, the differential susceptibility to genetic diseases and their response to the currently applied treatment methods is known. With the genome information that we have, we can come up with a precise and a personalized approach for not just a more effective but also an economical approach to the curing of these diseases.

The Department of Infectious Diseases at Kasturba Medical College and Hospital was introduced by Zelalem Temesgen, Director of Mayo Clinic, HIV program, U.S., here on Monday. An official statement gave here said that talking subsequent to introducing the office, Dr.

Cardiovascular diseases are very common between humans at old age. In our modern day, it is becoming even more common due to the unhealthy lifestyle and diets being used. Accordingly, it is important to treat these diseases carefully to prevent

Metabolic disorders are an important and critical diseases that should be handled wisely. These diseases are important due to the side effects they have on the body that could be dangerous. The cause of metabolic diseases are hard to know.

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CCMB to host an Indo-US workshop on the topic of genetic diseases - BPhrm Dv

The use of soybean oil has increased dramatically over the last few decades, to the extent that is has become the most widely consumed edible oil in the US and other Western nations. However, its rise has coincided with an alarming escalation in metabolic conditions like diabetes, insulin resistance, and obesity, and a new study indicates that this may be down to the way that soybean oil causes genetic changes in the brain.

Previous research has shown that mice fed a diet that is high in soybean oil are much more likely to develop these conditions than rodents fed on other fats like coconut oil. Further studies hinted that the culprit may be linoleic acid, as mice that consumed soybean oil that had been modified to lack this key ingredient were spared many of these harmful effects.

To better understand how soybean oil produces these negative consequences, scientists decided to investigate its impact on the expression of genes in the hypothalamus, a brain region that regulates metabolism and a range of other essential processes.

Mice were split into groups, of which one received a diet that was high in normal soybean oil, another consumed a diet high in soybean oil that lacked linoleic acid, and another was fed on a diet rich in coconut oil.

Writing in the journal Endocrinology, the study authors explain that soybean oil was found to modify the expression of around 100 different genes in the hypothalamus, affecting processes such as metabolism, neurological disease, and inflammation.

Among the altered genes were some that are associated with schizophrenia, depression, and Alzheimers disease, although by far the most affected was a gene that codes for the production of a hormone called oxytocin.

Oxytocin is sometimes referred to as the love hormone as it promotes social bonding and feelings of euphoria, and disruptions to its functioning have been linked to depression and autism. However, it also plays a key role in regulating body weight and glucose metabolism, and mice fed on soybean oil were therefore found to suffer from glucose intolerance, while those fed on coconut oil had no such problems.

Furthermore, the oxytocin gene was affected equally in mice that consumed regular soybean oil and the version that lacked linoleic acid, suggesting that the removal of this ingredient does not protect against the harmful effects of soybean oil.

With linoleic acid ruled out as the main driver of these harms, the researchers turned their attention to another compound found in soybean oil called stigmasterol. A further group of mice were fed a diet rich in coconut oil that had been modified to contain high quantities of stigmasterol, to see if this caused similar genetic changes within the hypothalamus.

Yet no such genetic alterations were found in the hypothalamus of these mice, indicating that stigmasterol is not to blame for the dangers of soybean oil.

Future research will now need to focus on determining which ingredient is responsible for these genetic changes, although study author Poonamjot Deol of the University of California, Riverside says that while many questions remain unanswered, some very concrete statements can be made off the back of this study.

"If there's one message I want people to take away, it's this: reduce consumption of soybean oil," she said in a statement.

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One Of The Most Common Ingredients In The Western Diet Has Been Found To Alter Genes In The Brain - IFLScience

Led by T. Rowe Funds and Viking Global Investors, the funding allowed Color to accrue a number of new partners, which now comprise Apple, Verily, Northshore University HealthSystem,the Teamsters Health and Welfare Fund of Philadelphia and Vicinity, and Sanford Health.

Color has also announced that it is now working alongside not-for-profit healthcare system Sanford Health to build on its Imagenetics genomics programme, which will, in turn, allow Sanford Health to embed genetic medicine directly into primary care, as well as to implement Colors digital tools to engage patients and streamline clinical reporting within its facilities.

Caroline Savello, Vice-President of Commercial for Color,commented: "In the last 18 months, we saw a huge acceleration with institutions around the world and across every type of player in the health ecosystem whether its hospitals or health systems, large-scale research programmes, payers, care delivery or employers who want to change the care delivery model for their population by understanding genetics across the population.

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Color raises further $75-million funding - ITIJ

A diagnostics subsidiary of Swiss drugmaker Roche has filed for approval of its liquid biopsy test and anticipates a Food and Drug Administration ruling in the first half of this year.

In an interview at the J.P. Morgan Healthcare Conference in San Francisco, Foundation Medicine CEO Cindy Perettie said the company filed for FDA approval of the FoundationOne Liquid test at the end of December. The approval would include companion diagnostics claims, as well as claims for microsatellite instability and blood tumor mutation burden. The company anticipates that the test would be covered under the National Coverage Determination for next-generation sequencing, rather than there being a need to obtain a new NCD. The company applied for approval in parallel with its biopharma partners, though Perettie declined to name them.

In October, the company presented data from the Phase II/III BFAST study which is enrolling 580 patients with non-small cell lung cancer on people receiving Roches drug Alecensa (alectinib), a drug that targets ALK fusions, a genetic driver of NSCLC. Among 2,219 screened and 2,188 whose tests yielded blood-based next-generation sequencing results, 5.8% were found to have ALK fusions. The overall response rate for patients in the study who received Alecensa was 87.4%, which investigators wrote resulted in a high response rate and clinical benefit among patients receiving the drug and validated liquid biopsys clinical utility in ALK fusion-positive NSCLC.

Having that concordance gives us a lot of confidence, Perettie said, referring to the ability of liquid biopsy to detect mutations at a rate comparable to what has been found before.

Although BFAST was not specifically designed to show head-to-head concordance with tissue biopsy, research has indicated that ALK fusions are present in 4-6% of NSCLC cases.

The study is also enrolling patients who receive Rozlytrek (entrectinib), an inhibitor of NTRK fusions, which are also genetic drivers of cancers, among other drugs.

Concordance is a crucial consideration with liquid biopsy because, while significantly less cumbersome than tissue biopsy, it of course would defeat the purpose of using liquid biopsy if patients who have undergone it nevertheless must still undergo tissue biopsy as well.

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The Medal for Scientific Distinguishment aims at encouraging scientific competencies in the UAE. Photo for illustrative purpose only. Image Credit: COURTESY EIAST

Dubai: The Mohammed bin Rashid Academy of Scientists (MBRAS) has announced the list of finalists for the third round of the Mohammed bin Rashid Medal for Scientific Distinguishment. The five finalists include scientists and scholars who have made a significant scientific contribution.

Celebrating and encouraging scientific competencies in the UAE, the medal allows scientists to showcase their capabilities by leveraging the wide array of opportunities offered by cutting-edge technologies. This will enable them to develop vital sectors and support advanced sciences in order to come up with innovative solutions to current and future challenges and harness such solutions to serve humanity and build a better world for future generations.

The winners of the third round of the Mohammed bin Rashid Medal for Scientific Distinguishment will be announced in February 2020, and will be granted the UAE Gold Visa along with their family members.

Ultimate goal

Sarah bint Yousif Al Amiri, UAE Minister of State for Advanced Sciences, said the UAE Government seeks to provide a nurturing environment for scholars of great scientific acheivements as reflected in the vision of His Highness Sheikh Mohammed bin Rashid Al Maktoum, UAE Vice President, Prime Minister and Ruler of Dubai. She noted that the ultimate goal is to engage talents and competencies to further develop sciences and scientific research, which will also achieve the objectives of the UAE Vision 2021, the National Advanced Sciences Agenda 2031 and the UAE Centennial Plan 2071.

- Sarah bint Yousif Al Amiri, UAE Minister of State for Advanced Sciences

The Mohammed bin Rashid Medal for Scientific Distinguishment reflects the keenness of the UAE Government to create a supporting environment for advanced sciences in the UAE, and to leverage innovative ideas and capabilities in its attempt to build the future and support the countrys evolution towards a sustainable and knowledge-based economy. This can be attained by extending support to the scientific and research movement and nurturing a generation of scientists and researchers who can utilize the latest innovations in science and technology to serve society and enhance the UAEs status as a global lab for future technologies, she said.

Granting the golden visa to winners of the Mohammed bin Rashid Medal for Scientific Distinguishment paves the way towards creating a stimulating environment conducive to advancement in various scientific research and knowledge fields. The move also underpins the UAEs approach to support development efforts, attract accomplished talents, competencies and researchers and encourage them to contribute to the UAEs overall economic growth and promote its leading position as a hub for scientists, innovators and researchers, she added.

Rigorous process

The Mohammed bin Rashid Medal for Scientific Distinguishment finalists were chosen from a long list of nominees from Khalifa University, UAE University, New York Abu Dhabi University, University of Sharjah, American University of Sharjah, Gulf Medical University in Ajman and Dubai Police. The finalists were evaluated by a specialised committee that included a group of top scientists and experts from different scientific fields from the National Academies of Sciences, Engineering, and Medicine in the United States.

A panel from the Emirates Scientists Council also interviewed each of the nominees. The panel included: Sarah bint Yousif Al Amiri, UAE Minister of State for Advanced Sciences and Chairperson of the Emirates Scientists Council; Dr Arif Sultan Al Hammadi, Director and the Executive Vice President of Khalifa University of Science Technology; and Professor Dr Ghaleb Ali Al Hadrami Al Breiki, Acting Vice Chancellor for Academic Affairs & Provost of UAE University.

Strict criteria

Nomination for the Mohammed bin Rashid Medal for Scientific Distinguishment is based on a set of strict criteria. Eligible candidates must be renowned scientists whose research has had a positive impact on the UAE and is aligned with the countrys vision. They must be active members in the UAE scientific community and have showcased a recognizable commitment to the development of young scientists and researchers through knowledge transfer. They must also be experts and a reference in their scientific field, both locally and internationally.

The Mohammed bin Rashid Medal for Scientific Distinguishment covers advanced research in several scientific disciplines, like Aerospace Engineering, Agricultural Biotechnology, Biology, Chemical Engineering, Civil Engineering, Clinical Medicine, Computer and Information Sciences, Earth and Environmental Sciences, Electrical Engineering, Food Sciences, Health Sciences, Material Engineering, Mechanical Engineering, Nanotechnology, Petroleum Engineering, and Physics.

Khalifa University accounted for 35 per cent of the finalists, UAE University 26 per cent and New York Abu Dhabi University 22 per cent.

Evaluation stages

The evaluation process for the Mohammed bin Rashid Medal for Scientific Distinguishment consisted of three stages. In the first stage, registration for the submission of applications from nominees was opened, allowing UAE-based scientists to participate, as well as receiving nominations from universities and research institutions. Nominees were evaluated based on the Medals initial criteria, notably specialisation, years of experience, application of scientific output and global impact of research.

In the second stage, nominees were evaluated by an international panel consisting of leading experts by looking at the nominees global impact on their respective fields.

The third stage consisted of final interviews conducted by the Emirates Scientists Council to assess the role of the nominated scientists/researchers and their contributions to scientific research in the UAE, as well as the extent to which their contributions are aligned with the National Advanced Sciences Agenda.

The finalists

Ehab El-Saadany

Director of Advanced Power and Energy Research Centre and a professor in the Electrical Engineering and Computer Science Department at Khalifa University of Science and Technology and Adjunct Professor at the ECE Department, University of Waterloo, Canada, he is the author of more than 420 top tier international journals and conferences publications with three US patents.

Professor El-Saadany helped 26 PhD and 20 Masters students graduate and supervised over 20 Postdoctoral fellows and visiting professors. He raised over $13 million in research funds from different federal, provincial and industrial entities internationally and nationally.

Rashid K. Abu Al-Rub

He is the Chair of Aerospace Engineering Department and the Director of Digital and Additive Manufacturing Centre at Khalifa University of Science and Technology. His primary research field is the development of macro-mechanics-based constitutive models and computational tools, as well as digital design, additive manufacturing and 3D printing.

He has published one book and over 300 publications in archival journals, book chapters and conference proceedings. He is responsible for a budget of more than $30 million and was selected in 2007 among nine leading scientists in the US by National Science Foundation and Department of Energy. He is one of the members of the US National Science Foundation - International Institute for Multifunctional Materials for Energy Conversion.

Lourdes Vega

He is the Director of the Research and Innovation Centre on CO2 and Hydrogen (RICH Centre) at Khalifa University and a Professor in Chemical Engineering with academic positions in the USA (University of Southern California, Cornell University); Spain (University of Sevilla, Universitat Rovira I Virgili, National Research Council of Spain); and the UAE.

Her work has been directed towards the combination of fundamental and applied research focused on sustainable processes and products. These include recent works on new refrigerants, water treatment, removal of contaminants and CO2 capture and utilisation. She is the author of more than 200 scientific papers and five patents, and she has raised more than $50 million as principal researcher grants. She serves as an editorial board member in five scientific journals and five international conference committees.

Bassam Ali

He is the Leader of the Molecular and Genomics Laboratory and Professor of Molecular and Genetic Medicine at UAE University. His research is focused on the identification of disease genes and mutations responsible for rare recessive disorders in Arab populations, and suggesting diagnostic and treatment means. He is the author of more than 80 articles in international prestigious journals and conferences.

He is on the editorial board of several international scientific journals and an expert reviewer in several biomedical journals. He also supervises 11 PhD and seven Masters students.

Mohammed ElMoursi

A Professor in the Electrical Engineering and Computer Science Department (EECS) at Khalifa University of Science and Technology, he specialises in renewable energy integration and smart grid development. He also leads Renewable Energy Integration at the Advanced Power and Energy Centre (APEC) research theme. He has two US patents and is the author of more than 140 papers published in international journals and conferences.

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Gold visa for Scientific Medal winners in the UAE - Gulf News

The direct to consumer testing market comes in many flavors these days, with companies like 23andMe dominating headlines with their genetic/ancestry tests targeting folks eager to learn more about themselves. Also joining the fray are tests designed to help women in theory, at least assess fertility by counting the number of eggs left in their ovaries.

Sounds like a great idea. Just one problem: egg counts may not be such a great indicator of fertility, according to the American College of Obstetricians and Gynecologists.

Still, that doesnt mean these tests have no value. A new study suggests they can empower women. And thats especially true for those who do not fit into the binary gender categories that health insurers may require for covering clinical versions of the test that cost ten times as much.

At-home tests for reproductive health for women have been around since the first home pregnancy kits hit the market in 1978. In 1989 came the first DIY ovulation predictor kits.

Tests to measure ovarian reserve how many eggs are left dont have the track record of these older tests. And they may not even be accurate for women who havent had difficulty conceiving or are taking birth control pills.

But do they still have value?

Moira A. Kyweluk, a fellow in the department of Medical Ethics and Health Policy at the Perelman School of Medicine at the University of Pennsylvania, decided to find out. She interviewed 21 women, of diverse backgrounds and circumstances, to tap their thoughts about direct-to-consumer (DTC) testing of ovarian reserve.

The women were recruited from social media, community center notice boards, and listservs, in Chicago during the first half of 2018. The findings appear in Social Science & Medicine.

Egg counters sold to consumers are part of the FemTech market. I view DTC testing as an entry point into what I term the new (in)fertility pipeline for women today. Because it is low cost and widely available, its reaching a larger demographic, people of diverse identities and backgrounds, and raising awareness of more advanced procedures and technologies like egg freezing, Dr. Kyweluk said in a news release.

But she questions the accuracy of these tests. Consumers continue to desire these tests, and theyre attractive, but they dont deliver on their promise.

The number of immature eggs in the two ovaries dwindles as a female ages.

Seven to eight million tiny undeveloped eggs are already present in a 20-week female fetus. That means, curiously, that a pregnant woman houses the cells that, when fertilized, will become her grandchild.

By birth, about a million oocytes remain, and that number is halved by puberty. Then by the start of menopause, around age 51, only 1,000 or so eggs remain. Over her lifetime, a woman ovulates 300 to 400 eggs.

Each egg occupies a chamber called a follicle. Each month between puberty and menopause, the largest egg pops out in response to a crescendo of luteinizing hormone thats ovulation. Meanwhile, anti-Mllerian hormone (AMH) suppresses release of the other, smaller eggs.

Its seemingly simple: The more AMH, the more eggs are left.

Measuring AMH is the basis of clinical tests used to predict ovulation in women undergoing in vitro fertilization (IVF) or egg freezing, presumably because theyve been unable to conceive. But the accuracy of AMH level to predict ovarian reserve among women who are fertile isnt known.

And so in 2019, the American College of Obstetricians and Gynecologists (ACOG) issued a statementthat consumer kits to measure AMH arent ready for prime time. The products are too variable and not standardized.

Serum anti-Mllerian hormone level assessment generally should not be ordered or used to counsel women who are not infertile about their reproductive status and future fertility potential, according to the statement. It includes a hypothetical case that illustrates misinformation about AMH testing:

A 26-year-old woman comes in for a wellness exam and the provider mentions the effects of aging on fertility. Im not ready to become pregnant now, but I would in the future. My friend recently took a blood test to check her egg count, so she knows how much longer she can wait to have a baby. Can I have that test?

If she meets criteria for infertility, her insurance might fork over a large part of the $1,500 cost for such a test. Thats why a DTC test kit that requires a pinprick of blood and costs $79 to $199, without requiring evidence of anything or an uncomfortable meeting with a health care provider, is an attractive alternative if it provides useful information.

The website for an ovarian reserve test kit from Modern Fertilitydoes comport with the ACOG statement.

Want kids one day? the opening page announces, like asking if you want to order a pizza. Women are invited to join a weekly egginar for information before they dive into the science that helps you do you.

Clicking ahead shows clear warnings that the test wont reveal infertility, but will indicate if a womans egg count is more or less than is average for her age. It sounds like peering into an egg carton to count whether it has all 12 expected eggs.

The test measures AMH, FSH (follicle stimulating hormone), and E2 (estradiol). Thats important to know, because a search for ovarian reserve testing on Amazon yielded first theEverlyWell ovarian reserve test egg quantity indicator, which measures only FSH not the important and telltale AMH.

The Modern Fertility test is also quite clear about what it can and cant do. A woman can discuss the results with her physician and ask about further testing and possibly pursuing IVF or egg freezing. Or, if she only has half a dozen in the egg carton analogy, she might expect to experience menopause sooner than shed thought.

Countering the ACOG statement is the LetsGetChecked product. The Ovarian Reserve Test is for anyone who is curious about their fertility status, according to the website. It costs $139.

The website for LetsGetChecked has a helpful list of conditions that can accelerate the whittling down of egg number, which a consumer can bring to a physician to explore further. These include polycystic ovary syndrome, chromosomal abnormalities such as Turners (XO) syndrome and fragile X, endometriosis, ovarian tumors, autoimmune disorders, and pelvic injuries. The woman would already know if shed had chemotherapy or radiation, which can damage eggs.

Dr. Kyweluk designed a study that would take a real-world view of the issues that might prompt a woman to take a DTC ovarian reserve test. Her paper is a series of vignettes.

The research differs from standard medical studies in that it is ethnographic, taking into account race and ethnicity, relationship status, insurance, sexual orientation, and socioeconomic group, because the reasons for seeking ovarian reserve testing go beyond biology. Dr. Kyweluk interviewed the women as they were deciding whether or not to take a test. She had a grant that paid for those who wanted to go ahead, using one company that provided access to a nurse practitioner to interpret findings.

Of the 21 participants, aged 21 to 45, 14 were white, 14 heterosexual, and 7 bisexual or queer. Three different scenarios of women seeking the DTC test indicate the variability of need.

Yvette was a 37-year-old African-American who had been trying with her husband to conceive for a decade. Their health insurance was quick to cover birth control, but assessing fertility, not so much.

When Yvettes ovarian reserve results were normal, the nurse suggested an ovulation predictor to better time intercourse and have her husband have a semen analysis.

Naomi was typical of a high-income, highly-educated white woman, who was stressing over whether she really wanted to have a baby. Would an ovarian reserve test indicate that it wasnt in the cards? Then she could stop thinking about it, or freeze eggs, which she could afford to do. Many women cant.

Josephine was 35 and African-American. A devout Catholic, she had just ended a long-term relationship. Her faith prompted her to ask, was I meant to be a parent? and she felt that the ovarian reserve test, if she had too few eggs, might reveal no.

Several women reported that taking the ovarian reserve test empowered them. Caroline, for example, was a 30-year-old queer white woman with a female partner. Medicaid had denied them coverage of any elective tests, and they didnt meet the diagnostic criteria for infertility because they were not a heterosexual couple.

The DTC test made me feel Im in control, like I can want some information, pay for it, and then get it. I didnt have to rely on a doctor to decide it was necessary for me to know this information. This is information that Ive wanted forever, Caroline told the researcher.

In one confusing case, the cisgender female partner (Breanne) of a transgender man (Tal) discovered, using a DTC test, that her ovarian reserve was quite low, something shed suspected from her age and irregular menstrual periods. The couple had planned to use a sperm donor and Breanne would carry the pregnancy. But if Breanne didnt have enough eggs, what would they do?

They had an idea. Did Tal still make eggs?

Hed been receiving testosterone injections for a decade as part of gender-affirming treatment and sported a full beard. But the DTC ovarian reserve test revealed he was still making the normal number of eggs for a cisgender woman his age. Hed carry the pregnancy!

But when Tal went to a clinical lab to repeat the ovarian reserve testing, the medical staff continually misunderstood their situation. Ultimately, Tal felt that inexpensive ovarian reserve testing was simply a foot in the door to other, more costly procedures, Dr. Kyweluk writes.

The bottom line: A DTC ovarian reserve test can give a woman a sense of control, but at the expense of an incomplete, confusing, or even meaningless clinical picture.

From a broader perspective, is egg counting an example of the medicalization of the range that is normal reproductive biology? Will it create the patients-in-waiting scenario that describes newborn screening that identifies genetic diseases well before they cause symptoms?

Steve Jobs is famous for inventing things that we didnt know we needed the iPod and then the iPhone. To paraphrase and take him a bit out of context, A lot of times, people dont know what they want until you show it to them.

Just as it took years for so many of us to realize that we couldnt live without smartphones, it will take time for data to accrue that improve the accuracy of DTC ovarian reserve tests in predicting infertility. Until then, it might be just one more thing to worry about.

Ricki Lewis is the GLPs senior contributing writer focusing on gene therapy and gene editing. She has a PhD in genetics and is a genetic counselor, science writer and author of The Forever Fix: Gene Therapy and the Boy Who Saved It, the only popular book about gene therapy. BIO. Follow her at her website or Twitter @rickilewis

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How fertile are you? 'Ovarian reserve' DTN tests that count your eggs offer mixture of control and misinformation - Genetic Literacy Project

Research on psychedelics, which have been profoundly stigmatized, highly restricted, and tragically undeveloped for more than half a century, is stirring back to life and rekindling scientific, medical, and cultural interest in these compounds.

In 2008, a psychedelic compound related to the primary psychoactive alkaloid in peyote was discovered to exert extraordinarily potent anti-inflammatory effects at very low drug concentrationsin vitroandin vivo. Additional studies have confirmed the capacity of psychedelics to modulate processes that perpetuate chronic low-grade inflammation and thus exert significant therapeutic effects in a diverse array of preclinical disease models, includingasthma,atherosclerosis,inflammatory bowel disease, andretinal disease.

The U.S. Defense Advanced Research Projects Agency recently acknowledged thepotential of subperceptual psychedelics. To address the high rate of mental illness among active duty military personnel, DARPA aims to discover new compounds that can exert the rapid and robust antidepressant effects of psychedelics without the associated trip.

In the private sector,Compass Pathwaysis conducting Phase 2 trials of psilocybin for treatment-resistant depression.

The time has come to make psychedelics, once seen as out there substances, mainstream and boring again.

Read full, original post: Transforming psychedelics into mainstream medicines

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Psychedelics have 'extraordinarily potent' anti-inflammatory power. Is there a place for them in mainstream medicine? - Genetic Literacy Project

20 January 2020

A new study suggests that rare harmful mutations in young healthy donors' stem cells can be passed on to recipients of stem cell transplants, potentially leading to health problems.

Stem cell transplants can be used to treat some blood disorders and cancers, such as acute myeloid leukaemia (AML), but can also have life-threatening complications such as cardiovascular problems and graft-versus-host disease (GvHD), where new immune cells from the donor attacks the patient's healthy cells.

'There have been suspicions that genetic errors in donor stem cells may be causing problems in cancer patients, but until now we didn't have a way to identify them because they are so rare,' said Dr Todd EDruley, Associate Professor of Paediatrics, Haematology and Oncology at Washington University School of Medicine, StLouis. 'This study raises concerns that even young, healthy donors' blood stem cells may have harmful mutations and provides strong evidence that we need to explore the potential effects of these mutations further.'Researchers analysed samples from patients with AML and their stem cell donors looking at 80 specific genes. The small pilot study identified at least one harmful genetic mutation in 11 of the 25 donors using an advanced sequencing technique. The donors ranged from 20 to 58 years old, with a median age of 26. Researchers later detected the harmful mutations present in donors within the recipients.

These extremely rare, harmful genetic mutations that are present in donors' stem cells do not cause any health problems to the donors, however, they may be passed on to the patients receiving stem cell transplants. Intense chemo- and radiation therapy is required prior to stem cell transplants and the immunosuppression given after the transplant unfortunately allows the rare mutation containing cells the opportunity to replicate quickly, which potentially can create health problems for the patients who receive them.

Co-author, Dr Sima TBhatt, Assistant Professor of Paediatrics, Haematology and Oncology also at Washington University, said 'Transplant physicians tend to seek younger donors because we assume this will lead to fewer complications. But we now see evidence that even young and healthy donors can have mutations that will have consequences for our patients. We need to understand what those consequences are if we are to find ways to modify them.'

The clinical implications of the findings need to be further studied. Dr Bhatt added: 'Now that we've also linked these mutations to GvHD and cardiovascular problems, we have a larger study planned that we hope will answer some of the questions posed by this one.'

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Novel mutations in stem cells of young donors can be passed to recipients - BioNews

Despite new paradigm-shifting treatments, lung cancer remains a deadly disease and improving outcomes requires more than just drug research.

The new Lung Ambition Alliance launched in July last year has identified three major challengers that are inhibiting long-term survival worldwide: late diagnosis, few treatment advances for early-stage cancer, and disparity in cancer care both worldwide and within countries.

In Japan, where I practice medicine, almost a third of lung cancer patients are now living for five-years following diagnosis, explains Dr Tetsuya Mitsudomi, president of the International Association for the Study of Lung Cancer (IASLC) and co-founder of the Lung Ambition Alliance. This is in contrast to the global statistics where just about one in every five lung cancer patients is alive five years after diagnosis.

More pervasive, however, is that lung cancer is still blighted by stigma. The results of a recent survey conducted by Ipsos MORI, sponsored by the Lung Ambition Alliance, show that only one in five people (22%) disagree with the statement generally, patients with lung cancer have caused their illness through their lifestyle choices and behaviors. The stigma of lung cancer is problematic and could influence smokers to feel guilty, ignore symptoms, and delay talking to their doctor. Stigma also contributes to lower research funding for lung cancer.

Luckily, there are many organisations across the world passionate about tackling lung cancer. The IASLC alone has more than 7,500 members worldwide. Mitsudomi says that collaborations like the Lung Ambition Alliance which is a partnership between the IASLC, Guardant Health, the Global Lung Cancer Coalition (GLCC) and AstraZeneca are critical to bringing together distinct organisations, all with complementary experience in helping patients and healthcare professionals manage the disease.

We believe that together we can approach the problem of improving patient survival in a systematic way, he says, explaining the impetus behind the Alliance. And only through a collaborative approach will we be able to get better results.

Improving screening

The Alliances goal is to eliminate lung cancer as a cause of death the first step towards this being to double five-year survival by 2025.

Mitsudomi says the Alliance has identified three areas it wants to prioritise in order to achieve this goal.

The first is to improve lung cancer diagnosis by raising awareness of the strong evidence for screening and addressing the barriers to early detection, with continued improvements to the ease and reliability of diagnostics and contributions to a deeper understanding of disease progression.

Despite evidence that low dose CT (LDCT) can save lives, globally, few places have implemented screening programmes, he explains.

In the United States, the US Preventive Services Task Force (USPSTF) recommends annual screening for people at high risk of developing lung cancer; elsewhere, no such programmes exist, meaning we are missing the opportunity to diagnose asymptomatic people at a point when there is a potential for them to be cured.

Despite this, in a recent survey almost nine in ten people (87%) said they were in favour of implementing a national programme in their country to increase the detection of lung cancer in the early stages. Among them, nearly two in three (62%) declared that they are strongly in favor of it.

To this end, the Alliance has been supporting the Early Imaging Lung Confederation (ELIC) a new cloud-based screening registry designed to improve the multidisciplinary detection and management of early stage lung cancer, when there is still potential for a cure.

Despite evidence that low dose CT can save lives, globally, few places have implemented screening programmes we are missing the opportunity to diagnose asymptomatic people at a point when there is a potential for them to be cured.

Innovative medicines

The second area of priority is delivering innovative medicines, which Mitsudomi says can be improved by enabling widespread paradigm shifts to earlier intervention when there is greater potential for a cure.

The lung cancer treatment landscape continues to rapidly evolve, he adds. In recent years, were seeing targeted medicines, where therapies are matched to specific patients defined by the specific genetic changes in their lung cancers, improving outcomes for many. Were also seeing strides with the number of immunotherapies being utilised in the clinic, but we believe that we can do better.

Precision medicine may be even more effective if administered earlier in the course of the disease, so were prioritising the validation of surrogate endpoints and the identification of predictive biomarkers to accelerate the research of these medicines in patients where there is the potential for a cure, rather than just to moderately extend survival.

The Alliance also supports the Major Pathologic Response (MPR) Project for pre-operative drug therapy.

Were exploring whether a given innovative therapy, such as immunotherapy, before surgery prolongs survival of the patients, explains Mitsudomi.

The problem is, it takes a long time to know the final results if overall survival is used as an endpoint. Instead, several investigators have begun to use MPR, which is tentatively defined as the percentage of patients whose cancer cells die by more than 90% in the resected specimen, however the definition is not yet standardised.

The MPR Project is a collection of clinical trial data and research that can be used to validate surrogate endpoints and identify predictive biomarkers. These in turn will become an important resource to accelerate the development of next-generation treatments for an ever-expanding range of tumor types and genetic mutations.

Quality of care

Finally, the Alliance hopes to enhance quality of care by working with advocates and policymakers to deliver projects to address the challenges most urgent to patients on the local level, by improving coordination across the multidisciplinary team and by instilling the urgency to act.

The key problem here remains the high variations in lung cancer management around the world. Moreover, there can often be very specific local barriers to quality care that must be considered when developing patient centric solutions to address them.

The Alliance is hoping to tackle this through the recently-announced Initiatives in Lung Cancer Care (ILC2) grant programme, an open call inviting registered patient organisations with a focus on lung cancer, around the world, to submit proposals for projects that can potentially transform patient care and improve survival within their home countries.

Similarly, the Alliance is now supporting the Staging Project, which started in 1997 as a means to reduce the wide variations and disparities in lung cancer staging, which is critical when identifying appropriate treatments for patients.

Through this we are working to standardise international lung cancer staging guidelines and are using this information to guide the development of the 9th edition of the Tumour, Node and Metastasis (TNM) staging system, the most commonly used system for classifying the spread of lung cancer in individual patients, says Mitsudomi.

The magnitude of the challenge faced in tackling lung cancer can seem overwhelming at times, and its not a problem thats going to go away any time soon. But it is also clear that this is a disease that has the attention of thousands of incredibly motivated researchers, patient groups and HCPs who will stop at nothing to eliminate it.

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The three biggest challenges in lung cancer, and how researchers are tackling them - - pharmaphorum