StemCell Therapy

Gene therapy is an experimental treatment technique that uses genes or genetic material to treat or prevent disease. Human clinical trials are underway to test potential gene therapies forhemophilia.

Hemophilia is a genetic bloodclotting disorder where patients do not make enough of the factors that allow blood to clot. Without these factors, patients cannot stop bleeding when they are injured. Patients with more severe forms of the disease can experience spontaneous bleeding around the joints.

Gene therapy for hemophilia involves using a modified virus (which does not cause disease) to introduce a copy of the gene that encodes for the clotting factor thats missing in patients. Following treatment with the virus, patients should begin producing their own clotting factor normally.

CRISPR/Cas9 is another strategy that could allow a patients body to produce their own blood clotting factor. It uses a piece of genetic material and an enzyme that acts like molecular scissors to repair the genetic fault that causes clotting factor deficiency.

AMT-060is a gene therapy being developed byUniQureto treathemophilia B. Early results from an ongoing two-cohort Phase 1/2, non-randomized, open-label, multi-center clinical trial(NCT02396342) which included 10 patients with severe or moderately severe hemophilia B demonstrated a clinically significant and sustained increase in factor IX activity, a substantial reduction in factor IX replacement therapy usage, and a complete cessation of spontaneous bleeding episodes.

AMT-061 is uniQures second gene therapy candidate for patients with hemophilia B. It is developed to deliver a variant of the F9 gene that encodes for clotting factor IX called FIX-Padua. This variant carries the instructions to make factor IX protein that is eight times more active than the normal protein. A harmless virus vector is used to direct the delivery of FIX-Padua to the patients body. Interim results of an ongoing Phase 2B study (NCT03489291) testing the safety and efficacy of AMT-061 in three patients with severe to moderately severe hemophilia B showed increased factor IX activity, reduced risk of bleeding, and no adverse events. A multicenter Phase 3 study (NCT03569891) evaluating the safety, efficacy, and tolerability of AMT-061 in hemophilia B patients is also underway.

FLT180ais a gene therapy being developed byFreeline.A Phase 1 clinical trial (NCT03369444) is currently recruiting patients with hemophilia B in the U.K. to testFLT180a. A second Phase 2/3 study (NCT03641703) is also recruiting participants in the same location to investigate the long-term safety and durability of factor IX activity in participants who have been treated with FLT180a gene therapy.

Sangamo Therapeutics is developing a genome editing therapy for hemophilia B called SB-FIX. A Phase 1/2 clinical trial (NCT02695160) is currently recruiting participants at several sites in the U.S. and the U.K.

Fidanacogene elaparvovec (SPK-9001) is a treatment for hemophilia B being developed in a partnership between Spark Therapeutics and Pfizer. This therapy is currently being investigated in a Phase 2 clinical trial (NCT02484092).

SPK-8011 is a gene therapy for hemophilia A being developed by Spark Therapeutics.Preliminary results from Phase 1/2 clinical trials (NCT03003533) indicated that all five participants in the first two dose cohorts have shown persistent, stable clotting factor levels in their blood.

Spark Therapeutics is developing another gene therapy called SPK-8016, which is designed to help hemophilia A patients who have developed inhibitors against their own clotting factors. Patients are currently being recruited for a Phase 1/2 clinical trial (NCT03734588) in the U.S. to determine the effective dosage of the treatment.

Valoctocogene roxaparvovec (BMN 270) is a gene therapy being developed by Biomarinto treat hemophilia A. The therapy is currently in Phase 1/2 clinical trials (NCT02576795).

SB-525is a gene therapybeingdeveloped bySangamo Therapeuticsto treathemophilia A. A Phase 1/2 clinical trial(NCT03061201) is currently recruiting about 20 adults with hemophilia A at sites across the U.S. to evaluate the safety, tolerability, and efficacyof the treatment.

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Hemophilia News Todayis strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment.This contentis not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas.Emily is passionate about science communication, and, in her free time, writes and illustrates childrens stories.

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Gene Therapy - Hemophilia News Today

Hundreds of clinical trials are underway studying the technologys potential use in a wide range of genetic disorders, cancer and HIV/AIDS. There is some debate over whether or not the US already has approved its first gene therapy treatment.

In August 2017, the Food and Drug Administration (FDA) approved a cancer therapya CAR-T treatment marketed as Kymriahthat uses a patients own T cells and is a variation of the gene therapy that is being developed to treat single-gene diseases. The T cells are extracted and genetically altered so that they have a new gene that codes for a protein, known as a chimeric antigen receptor (CAR), that is a hybrid of two immune system proteins. One part guides the cells to the cancer cell targets and the other alerts the immune system. The cells, programmed to target and kill leukemia cells, are then injected back into the patient. Another CAR-T treatment, marketed as Yescarta, was approved for adults with aggressive forms of non-Hodgkins lymphoma in October 2017.

Some in the scientific community have pushed back against the idea of calling Kymriah or Yescarta true gene therapies, since they dont actually repair or replace a deficient gene. Instead, they say the most likely candidate to gain the first US approval is Luxturna, a one-time treatment that targets a rare, inherited form of blindness. A key committee of independent experts voted unanimously in October 2017 to recommend approval by the FDA for the treatment developed by Spark Therapeutics. The FDA is not bound by the panels decision, though the agency traditionally acts on its recommendations.

Hundreds of research studies (clinical trials) are underway to test gene therapies as treatments for genetic conditions, cancer and HIV/AIDS. ClinicalTrials.gov, a service of the National Institutes of Health, provides easy access to information about clinical trials. There is also a list of gene therapy clinical trials that are accepting (or will accept) participants. Among the studies and research:

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Gene Therapy Archives | Genetic Literacy Project

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Medically reviewed by Drugs.com. Last updated on Dec 29, 2017.

Gene therapy involves altering the genes inside your body's cells in an effort to treat or stop disease.

Genes contain your DNA the code that controls much of your body's form and function, from making you grow taller to regulating your body systems. Genes that don't work properly can cause disease.

Gene therapy replaces a faulty gene or adds a new gene in an attempt to cure disease or improve your body's ability to fight disease. Gene therapy holds promise for treating a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS.

Researchers are still studying how and when to use gene therapy. Currently, in the United States, gene therapy is available only as part of a clinical trial.

Gene therapy is used to correct defective genes in order to cure a disease or help your body better fight disease.

Researchers are investigating several ways to do this, including:

Gene therapy has some potential risks. A gene can't easily be inserted directly into your cells. Rather, it usually has to be delivered using a carrier, called a vector.

The most common gene therapy vectors are viruses because they can recognize certain cells and carry genetic material into the cells' genes. Researchers remove the original disease-causing genes from the viruses, replacing them with the genes needed to stop disease.

This technique presents the following risks:

The gene therapy clinical trials underway in the U.S. are closely monitored by the Food and Drug Administration and the National Institutes of Health to ensure that patient safety issues are a top priority during research.

Currently, the only way for you to receive gene therapy is to participate in a clinical trial. Clinical trials are research studies that help doctors determine whether a gene therapy approach is safe for people. They also help doctors understand the effects of gene therapy on the body.

Your specific procedure will depend on the disease you have and the type of gene therapy being used.

For example, in one type of gene therapy:

Viruses aren't the only vectors that can be used to carry altered genes into your body's cells. Other vectors being studied in clinical trials include:

The possibilities of gene therapy hold much promise. Clinical trials of gene therapy in people have shown some success in treating certain diseases, such as:

But several significant barriers stand in the way of gene therapy becoming a reliable form of treatment, including:

Gene therapy continues to be a very important and active area of research aimed at developing new, effective treatments for a variety of diseases.

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Gene therapy - Drugs.com

Gene therapy, also called gene transfer therapy, introduction of a normal gene into an individuals genome in order to repair a mutation that causes a genetic disease. When a normal gene is inserted into the nucleus of a mutant cell, the gene most likely will integrate into a chromosomal site different from the defective allele; although that may repair the mutation, a new mutation may result if the normal gene integrates into another functional gene. If the normal gene replaces the mutant allele, there is a chance that the transformed cells will proliferate and produce enough normal gene product for the entire body to be restored to the undiseased phenotype.

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cancer: Gene therapy

Knowledge about the genetic defects that lead to cancer suggests that cancer can be treated by fixing those altered genes. One strategy

Human gene therapy has been attempted on somatic (body) cells for diseases such as cystic fibrosis, adenosine deaminase deficiency, familial hypercholesterolemia, cancer, and severe combined immunodeficiency (SCID) syndrome. Somatic cells cured by gene therapy may reverse the symptoms of disease in the treated individual, but the modification is not passed on to the next generation. Germline gene therapy aims to place corrected cells inside the germ line (e.g., cells of the ovary or testis). If that is achieved, those cells will undergo meiosis and provide a normal gametic contribution to the next generation. Germline gene therapy has been achieved experimentally in animals but not in humans.

Scientists have also explored the possibility of combining gene therapy with stem cell therapy. In a preliminary test of that approach, scientists collected skin cells from a patient with alpha-1 antitrypsin deficiency (an inherited disorder associated with certain types of lung and liver disease), reprogrammed the cells into stem cells, corrected the causative gene mutation, and then stimulated the cells to mature into liver cells. The reprogrammed, genetically corrected cells functioned normally.

Prerequisites for gene therapy include finding the best delivery system (often a virus, typically referred to as a viral vector) for the gene, demonstrating that the transferred gene can express itself in the host cell, and establishing that the procedure is safe. Few clinical trials of gene therapy in humans have satisfied all those conditions, often because the delivery system fails to reach cells or the genes are not expressed by cells. Improved gene therapy systems are being developed by using nanotechnology. A promising application of that research involves packaging genes into nanoparticles that are targeted to cancer cells, thereby killing cancer cells specifically and leaving healthy cells unharmed.

Some aspects of gene therapy, including genetic manipulation and selection, research on embryonic tissue, and experimentation on human subjects, have aroused ethical controversy and safety concerns. Some objections to gene therapy are based on the view that humans should not play God and interfere in the natural order. On the other hand, others have argued that genetic engineering may be justified where it is consistent with the purposes of God as creator. Some critics are particularly concerned about the safety of germline gene therapy, because any harm caused by such treatment could be passed to successive generations. Benefits, however, would also be passed on indefinitely. There also has been concern that the use of somatic gene therapy may affect germ cells.

Although the successful use of somatic gene therapy has been reported, clinical trials have revealed risks. In 1999 American teenager Jesse Gelsinger died after having taken part in a gene therapy trial. In 2000 researchers in France announced that they had successfully used gene therapy to treat infants who suffered from X-linked SCID (XSCID; an inherited disorder that affects males). The researchers treated 11 patients, two of whom later developed a leukemia-like illness. Those outcomes highlight the difficulties foreseen in the use of viral vectors in somatic gene therapy. Although the viruses that are used as vectors are disabled so that they cannot replicate, patients may suffer an immune response.

Another concern associated with gene therapy is that it represents a form of eugenics, which aims to improve future generations through the selection of desired traits. Some have argued that gene therapy is eugenic but that it is a treatment that can be adopted to avoid disability. To others, such a view of gene therapy legitimates the so-called medical model of disability (in which disability is seen as an individual problem to be fixed with medicine) and raises peoples hopes for new treatments that may never materialize.

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Gene therapy | medicine | Encyclopedia Britannica

The Food and Drug Administration on Friday approved the first gene therapy for a type of spinal muscular atrophy, a lifesaving treatment for infants that will also be the most expensive drug in the world.

Known as Zolgensma, the gene therapy treats children under 2 years of age with spinal muscular atrophy, an inherited neuromuscular disease that causes progressive loss of muscle function. The most severe form of SMA causes infants to die or rely on permanent breathing support by the age of 2. The disease is caused by a defect in a gene that makes SMN, a protein necessary for the survival of motor neurons. Zolgensma uses a re-engineered virus to deliver a functional copy of the defective gene so that SMN protein can be produced.

Novartis is pricing Zolgensma at $2.125 million, or an annualized cost of $425,000 per year for five years, the company said.

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Launching Zolgensma will be a big test for Novartis and CEO Vas Narasimhan, now two years on the job. Shareholders expect the gene therapy to deliver blockbuster sales to justify the $8.7 billion that Novartis spent to acquire it last year.

To achieve commercial success, Novartis must persuade doctors who treat SMA patients that the muscle-preserving benefits from a one-time injection of Zolgensma will be durable. Complex payment and insurance reimbursement arrangements required for expensive gene therapies need to be handled deftly.

Novartis is likely to face backlash from critics who believe charging millions of dollars for any medicine no matter how effective renders it unaffordable for a healthcare system already under financial stress.

Theres also competition. Spinraza, approved in late 2016 and sold by Biogen, has already been used to successfully treat thousands of patients with severe and milder forms of SMA. The drug requires regular spinal infusions costing $750,000 in the first year and $375,000 annually thereafter, for life. Sales last year totaled $1.7 billion. Zolgensma may be more convenient than Spinraza, but Roche is developing a daily pill for SMA called risdiplam that could reach the market in 2020.

The FDA approved Zolgensma to treat children under 2 diagnosed with SMA, regardless of genetic mutation. In its pivotal clinical trial and an ongoing clinical trial, a majority of the infants and young children injected once with Zolgensma remained alive, could breathe on their own, and showed improvements in motor milestones like being able to sit up without support.

Zolgensma is markedly better than any other therapy out there, particularly in the clinical trials of type 1 that weve released, Narasimhan told STAT in a recent interview. Clearly, parents will know right away that this is a medicine that performs extremely, extremely well in these infants and has this kind of marked effect on their well-being.

In its announcement, acting FDA Commissioner Ned Sharpless said the approval marks another milestone in the transformational power of gene and cell therapies to treat a wide range of diseases.

A survey of 30 doctors currently treating SMA patients, conducted by the analysts at Jefferies, found that 30% would use Zolgensma in newly diagnosed SMA patients one year after launch. Doctors were also interested in trying combinations of Zolgensma and Spinraza. Jefferies is forecasting Zolgensma sales to reach $2.6 billion, above the $1.9 billion consensus peak sales estimate.

Biogen disagrees, not surprisingly. On a recent conference call, executives argued that even with Zolgensmas arrival, Spinraza remains the standard of care treatment for SMA, based on the drugs broader label and more than 7,000 patients treated, some for as long as six years. Spinraza is approved for all types of SMA from the sickest type 1 infants to adults with milder forms of the disease where loss of muscle function starts later and is more gradual.

Biogen welcomes additional therapeutic options to help individuals with this rare disease, the company said in a statement issued after Zolgensmas approval. We are proud to have helped more than 7,500 people with SMA. Spinraza continues to be the only treatment available for a broad age range of patients with SMA.

Dr. John Brandsema, a pediatric neurologist at Childrens Hospital of Philadelphia, has treated SMA patients with Spinraza and Zolgensma. He believes comparisons are premature.

Theres a reluctance on the part of the academic community to directly compare the patients from the gene transfer trial [Zolgensma] to the patients from the nusinersen [Spinraza] trial. They were different in their inclusion criteria, in their age at initiation of therapy and in some of the outcome measures that were being studied, Brandsema told STAT. I think you really need real-world experience to be able to do comparisons to that level and we dont have real-world experience yet with gene transfer. Brandsema has received consulting fees from Biogen and AveXis, the biotech company that developed Zolgensma and was acquired by Novartis.

Dr. Ed Smith, an SMA expert at Duke University, said awareness of Zolgensma is already high among his patients and their caregivers.

I will say that talking to the patients and families who are doing Spinraza currently, many of them are eagerly awaiting the option potentially for a one time dose of a gene therapy if thats an option for them, Smith told STAT. Most of them that Ive asked, and Ive asked most of them, sort of eagerly await this as an option and want to know, is it going to be an option for me.

About that $2.1 million Zolgensma sticker price: Novartis defends its pricing decision, calling the treatment highly cost effective and fair and reasonable given the benefit demonstrating in clinical trials. Novartis pointed out that chronic injections of Spinraza cost more than $4 million over five years.

Novartis said it is working with insurers to implement pay-over-time and outcomes-based agreements to accelerate patient access and reimbursement for Zolgensma.

Significantly, Novartis wont get pushback from the Institute for Clinical and Economic Review, a nonprofit that has become an unofficial force in the country for assessing the economic benefits of new medicines. On Friday, ICER endorsed Novartis pricing strategy. An updated ICER cost-effectiveness analysis found that Zolgensma, at $2.1 million, was just slightly higher than its value-based pricing benchmark. A previous ICER analysis pegged the justifiable cost of Zolgensma at $1.5 million.

Zolgensma is dramatically transforming the lives of families affected by this devastating disease, and given the new efficacy data for the pre-symptomatic population, the price announced today falls within the upper bound of ICERs value-based price benchmark range, said Dr. Steven D. Pearson, president of ICER.

Peter Bach, director for the center for health policy and outcomes at Memorial Sloan Kettering Cancer Center, is troubled by Zolgensmas price and believes ICERs updated cost-effectiveness analysis takes too many liberties.

You can look at this in either of two ways. Its an amazing treatment and only a few kids will need it so a million here and million there is not worth more than shoulder shrug, he said. Or we have a big problem. Biopharma has been entirely redirected to rare diseases because the market will tolerate any price and the FDA will require pretty minimal data.

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At $2.1M, Novartis gene therapy will be worlds most ...

Dr. Vasant Narasimhan, CEO of Novartis, speaking at the Healthy Returns conference in New York City on May 21, 2019.

Astrid Stawiarz | CNBC

The Food and Drug Administration on Friday approved Novartis' $2.1 million gene therapy for spinal muscular atrophy making it the world's most expensive drug.

The therapy, Zolgensma, is a one-time treatment for spinal muscular atrophy, a muscle-wasting disease and leading genetic cause of infant mortality that affects one in every 11,000 births. Novartis had previously said it could price the treatment between $1.5 million to $5 million.

Novartis said the treatment will cost $2.1 million or $425,000 a year spread out over five years. The company said it's "working closely with insurers to create 5-year agreements based on success of the treatment as well as other novel pay-over-time options." It's currently in "advanced discussions" with more than 15 insurers on payment options. Shares of Novartis were up nearly 4% late-afternoon Friday.

This marks a new era in medicine where new therapies can cure patients in a single treatment but at a high price. Insurers and governments will need to figure out how to pay for these therapies and society will need to decide whether any drug, even lifesaving ones, are worth millions of dollars.

"Zolgensma is a historic advance for the treatment of SMA and a landmark one-time gene therapy," Novartis CEO Vas Narasimhan said a statement Friday. "Our goal is to ensure broad patient access to this transformational medicine and to share value with the healthcare system."

In rationalizing the expensive price, Novartis said the one-time treatment costs 50% less than the 10-year cost of current chronic management of the disease.

"We believe by taking this responsible approach, we will help patients benefit from this transformative medical innovation and generate significant cost savings for the system over time," said Narasimhan, who has called for new ways to pay for innovative gene therapies.

The Institute for Clinical and Economic Review, which evaluates drug prices, earlier this year said Zolgensma was worth up to only $1.5 million. On Friday, ICER said that after further studying the clinical results and the FDA's approval, it decided Zolgensma's price "falls within the upper bound of ICER's value-based price benchmark range."

"Insurers were going to cover Zolgensma no matter the price, and Novartis has spoken publicly about considering prices that approached $5 million," ICER President Steven Pearson said in a statement. "It is a positive outcome for patients and the entire health system that Novartis instead chose to price Zolgensma at a level that more fairly aligns with the benefits for these children and their families."

Another current treatment for spinal muscular atrophy for children and adults is Biogen's Spinraza, which has a list price of $750,000 for the first year and $375,000 annually thereafter. Biogen's stock was down more than 1% on Friday.

"As a global leader in the treatment of spinal muscular atrophy, a life threatening, devastating disease, Biogen welcomes additional therapeutic options to help individuals with this rare disease," Biogen said in a statement.

Acting FDA Commissioner Ned Sharpless lauded the approval, saying in a statement that it marked "another milestone in the transformational power of gene and cell therapies to treat a wide range of diseases. With each new approval, we see this exciting area of science continue to move beyond the concept phase into reality."

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Novartis' gene therapy Zolgensma will cost $2.1 million

April 30, 2019

Children born with a rare genetic disorder called X-linked severe combined immunodeficiency (X-SCID) dont have a functioning immune system. As a result, they cant fight off infections. Without treatment, an infant with X-SCID will usually die within the first year or two of life.

The best option for treatment of newly diagnosed infants with X-SCID has been stem-cell transplantation from a genetically matched sibling. But less than a quarter of children with X-SCID have a matched donor available. For those without a matched donor, standard treatment has been a half-matched bone marrow transplant from a parent. But most infants receiving this type of transplant only have part of their immune system, called T lymphocytes, restored. These infants will need lifelong injections of protective antibodies. In addition, as they grow into young adulthood, they may have chronic medical problems that affect growth, nutrition, and quality of life.

To develop a better approach to fix the immune systems of children with X-SCID, researchers have used gene therapy to alter patients own blood stem cells. An engineered virus brings a healthy copy of the gene into the stem cells to replace the mutated gene that causes the disease.

Early results from trials of gene therapy for X-SCID resulted in life-saving correction of T lymphocytes. But similar to bone marrow transplant from a parent, the immune restoration was incomplete. In addition, in those first gene therapy studies, almosta third of the children developed leukemia. The approach accidentally stimulated cells to grow uncontrollably. In later studies, improved design of the engineered virus didnt cause cancer, but also didnt fully restore a healthy immune system.

In 2010, Dr. Harry Malech of NIHs National Institute of Allergy and Infectious Diseases (NIAID) and Dr. Brian Sorrentino of St. Jude Childrens Research Hospital reported a new and safer version of gene therapy for X-SCID. They designed a harmless engineered virus (called a lentivector) that could deliver genes into cells without activating other genes that can cause cancer. Before the altered stem cells were returned to their bodies, patients were given low doses of the chemotherapy drug busulfan. This made it easier for the new stem cells to grow in the bone marrow. In young adults and children treated at the NIH Clinical Center, the new therapy proved to be both safe and effective at restoring the full range of immune functions.

Based on this work, a team led by Dr. Ewelina Mamcarz of St. Jude Childrens Research Hospital began treatment in 2015 of newly diagnosed infants with X-SCID using the lentivector and busulfan. The work was funded in part by NHLBI. The team described the treatment of eight infants with the disorder on April 18, 2019, in the New England Journal of Medicine.

By 3 to 4 months after infusion of the repaired stem cells, 7 of the 8 infants had normal levels of multiple types of immune cells in their blood. The last infant required a second stem-cell infusion, after which his immune-cell levels rose to a normal range.

The infants new immune systems were able to fight off infections that the researchers had detected before the gene therapy. Four of the eight discontinued immune-system boosting medications that theyd previously needed. Of those four, three developed antibodies in response to vaccination, indicating a fully functional immune system.

A year and a half after gene therapy, all children were healthy and growing normally.

The broad scope of immune function that our gene therapy approach has restored to infants with X-SCID as well as to older children and young adults in our continuing study at NIH is unprecedented, Malech says.

The researchers will continue to follow the participants over time. They plan to track how the childrens immune systems develop and look for any late side effects.

References:Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1. Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, Ma Z, Condori J, Dowdy J, Triplett B, Li C, Maron G, Aldave Becerra JC, Church JA, Dokmeci E, Love JT, da Matta Ain AC, van der Watt H, Tang X, Janssen W, Ryu BY, De Ravin SS, Weiss MJ, Youngblood B, Long-Boyle JR, Gottschalk S, Meagher MM, Malech HL, Puck JM, Cowan MJ, Sorrentino BP. N Engl J Med. 2019 Apr 18;380(16):1525-1534. doi: 10.1056/NEJMoa1815408. PMID: 30995372.

Funding:NIHs National Institute of Allergy and Infectious Diseases (NIAID); National Heart, Lung, and Blood Institute (NHLBI); and National Cancer Institute (NCI); American Lebanese Syrian Associated Charities; California Institute of Regenerative Medicine; and Assisi Foundation of Memphis.

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Gene therapy reverses rare immune disorder | National ...

Gene Therapy Research: Then and Now

The idea of gene therapy is not new. In fact, scientist have been investigating and evolving it for more than 50 years, and, to date, more than 2300 gene therapy clinical trials are planned, ongoing, or have been completed.

Gene therapy research, some in very early stages, is focusing on many diseases that are partly or fully caused by genetic mutations, such as blood clotting disorders, for example hemophilia, cardiovascular disease, neurodegenerative disorders, such as Parkinsons disease, vision disorders, and musculoskeletal disorders.

The potential of gene therapy research brings hope to millions of people living with currently untreatable diseases.

Understanding Genetic Disease

Before you can understand what gene therapy research is, its important to know what a gene is. The human body is composed of trillions of cells. Within a cell, theres a nucleus, which contains chromosomes. Chromosomes are made up of DNA, which is the bodys hereditary material. Genes are segments of DNA. Genes contain instructions for making proteins, which are molecules that build, regulate, and maintain the body.

Sometimes theres a change in a genes DNA sequence. This is called a mutation and can cause a necessary protein to not work properly or to be missing. A mutation can be a substitution, deletion, or duplication. Some mutations are harmless, but others can result in a genetic disease.

Simply put, gene therapy is an investigational approach with the goal of treating or possibly preventing a genetic disease.

Exploring the Potential of Gene Therapy

One goal of gene therapy research is to determine whether a new or functional gene can be used to restore the function of or inactivate a mutated gene. One way for this to happen is to deliver a gene into a cell. To do so, a transporter, known as a vector, is typically used. A vector can be made from an altered virus. Which means that before the virus is used, its viral genes are removed. Vectors can be given intravenously, which means they are administered into a vein, or injected into a specific tissue in the body.

There are three commonly used vectors. One of them, adeno-associated virus, or AAV is not known to cause disease, which is why it may be used as a viral vector to transport a gene into the cell.

In this example, the gene delivered into the cell does not integrate into its DNA and cannot be passed down to new cells.

Once the cell has received the functional gene, it should address the mutation by producing the necessary protein or stopping production of the harmful protein. At Spark Therapeutics, we are using AAV vectors to advance research programs against strategically selected target tissues for example, the retina, liver, and central nervous system. Which is all part of our mission to challenge the inevitability of genetic disease.

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About Gene Therapy: A Potential Treatment for Genetic Diseases

Homology Medicines gene therapy approach utilizes our proprietary AAVHSC vectors to deliver a functional gene to a cell where there is a missing or mutated gene. Once delivered, the functional gene may lead to therapeutic protein expression. With gene therapy, the genes do not integrate into the genome so this approach can be curative in slow- or non-dividing cells (e.g., adult liver or central nervous system).

Our gene therapy construct includes a functional copy of the gene and a promotor sequence that is designed to enable the gene to be turned on in the cell and ultimately transcribed to express a therapeutic protein without integrating into the genome.

Our unique vectors have demonstrated significant systemic biodistribution to multiple tissue types in preclinical studies, including liver, central nervous system (CNS), muscle (skeletal and cardiac) and eye*. This enables us to potentially address a broad range of monogenic diseases.

Our lead development program is an AAVHSC-mediated gene therapy treatment for adults with the rare disease phenylketonuria. Learn more about our pipeline and therapeutic focus.

*Homology data on file; Ellsworth JL, Smith LJ, Rubin H, et al. Widespread transduction of the central nervous system following systemic delivery of AAVHSC17 in non-human primates. American Society of Gene & Cell Therapy Annual Meeting. May 2017.

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Gene Therapy : Homology Medicines

They were born without a working germ-fighting system, every infection a threat to their lives. Now eight babies with "bubble boy disease" have had it fixed by a gene therapy made from one of the immune system's worst enemies HIV, the virus that causes AIDS.

Astudyout Wednesday details how scientists turned this enemy virus into a savior, altering it so it couldn't cause disease and then using it to deliver a gene the boys lacked.

"This therapy has cured the patients," although it will take more time to see if it's a permanent fix, said Dr. Ewelina Mamcarz, one of the study leaders at St. Jude Children's Research Hospital in Memphis.

Omarion Jordan, who turns 1 later this month, had the therapy in December to treat severe combined immunodeficiency syndrome, or SCID.

"For a long time we didn't know what was wrong with him. He just kept getting these infections," said his mother, Kristin Simpson. Learning that he had SCID "was just heartbreaking ... I didn't know what was going to happen to him."

Omarion now has a normal immune system. "He's like a normal, healthy baby," Simpson said. "I think it's amazing."

Study results were published by the New England Journal of Medicine. The treatment was pioneered by a St. Jude doctor who recently died, Brian Sorrentino.

SCID is caused by a genetic flaw that keeps the bone marrow from making effective versions of blood cells that comprise the immune system. It affects 1 in 200,000 newborns, almost exclusively males. Without treatment, it often kills in the first year or two of life.

"A simple infection like the common cold could be fatal," Mamcarz said.

The nickname "bubble boy disease" comes from a famous case in the 1970s a Texas boy who lived for 12 years in a protective plastic bubble to isolate him from germs. A bone marrow transplant from a genetically matched sibling can cure SCID, but most people lack a suitable donor. Transplants also are medically risky the Texas boy died after one.

Doctors think gene therapy could be a solution. It involves removing some of a patient's blood cells, using the modified HIV to insert the missing gene, and returning the cells through an IV. Before getting their cells back, patients are given a drug to destroy some of their marrow so the modified cells have more room to grow.

When doctors first tried it 20 years ago, the treatment had unintended effects on other genes, and some patients later developed leukemia. The new therapy has safeguards to lower that risk.

A small study of older children suggested it was safe. The new study tried it in infants, and doctors are reporting on the first eight who were treated at St. Jude and at UCSF Benioff Children's Hospital San Francisco.

Within a few months, normal levels of healthy immune system cells developed in seven boys. The eighth needed a second dose of gene therapy but now is well, too. Six to 24 months after treatment, all eight are making all the cell types needed to fight infections, and some have successfully received vaccines to further boost their immunity to disease.

No serious or lasting side effects occurred.

Omarion is the 10th boy treated in the study, which is ongoing. It's sponsored by the American Lebanese Syrian Associated Charities, the California Institute of Regenerative Medicine, the Assisi Foundation of Memphis and the federal government.

"So far it really looks good," but patients will have to be studied to see if the results last, said Dr. Anthony Fauci, head of the National Institute of Allergy and Infectious Diseases, which helped develop the treatment. "To me, this looks promising."

Rights to it have been licensed by St. Jude to Mustang Bio. Doctors say they have no estimate on what it might cost if it does become an approved treatment.

A similar technique harnessing a modified version of HIV is also being studied as a possible cure for sickle cell anemia, CBS News chief medical correspondent Dr. Jon LaPook reports. In a clinical trial at the National Institutes of Health, nine adults with sickle cell anemia have undergone the gene therapy. So far, all are responding well.

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Gene therapy might be a cure for "bubble boy disease ...

Actus Therapeutics Inc.

Actus Therapeutics develops gene therapies for rare diseases including Pompe disease and epilepsy.

Adrenas Therapeutics is developing a gene therapy for the treatment of a monogenic disease that presents in childhood.

Asklepios BioPharmaceutical (AskBio) develops protein- and cell-based therapies using a proprietary technology platform called Biological Nano Particles (BNP).

The Division of Therapeutic Research and Development at Atrium Health conducts clinical studies, patient-focused translational research and outcomes research.

AveXis develops and commercializes gene therapy products for neurological genetic diseases. The Durham site is AveXis' manufacturing operations.

Couragen Biopharmaceutics develops gene and protein therapy products for preclinical and clinical use for the treatment of genetic and chronic diseases. Couragen also provides custom adeno-associated virus vectors as a tool for laboratory research.

Elo Life Systems develops Precision Biosciences' technology, called Directed Nuclease Editor, to site-specifically insert or remove traits at a user-defined location in the genome of row crops, biofuel feedstocks and other plants.

Enzerna Biosciences is developing molecular tools for reversible, precise manipulation of gene expression, using technologies that create sequence-specific RNA binding proteins. Enzerna also offers mitochondrial toxicity models and testing.

Falcon Therapeutics is developing personalized neural stem cell therapies to treat cancers.

Fujifilm Diosynth Biotechnologies provides biologics contract development and manufacturing. Services include cell line development, process and analytical development, clinical and commercial manufacturing and bioprocess research and development.

Gene Facelift develops a cosmetic gene therapy in a topical cream formulation to reduce wrinkles, regenerate collagen and restore aging skin. The delivery platform will be used to develop wound healing drugs.

Gyrus Pharmaceuticals is developing treatments for serious diseases of the central nervous system using proprietary therapeutic agents and nanoparticles for noninvasive delivery to the CNS.

NanoCor Therapeutics develops an intracellular genetic protein therapy for the treatment of chronic heart failure.

The NCSU Technology Incubator at Centennial Campus offers a program and facilities specifically designed for tech start-ups with high-impact potential.

Ocis Biotechnology develops implantable custom hydrogel medical devices for surgical implantation and injection that produce time-released biologics for tissue regeneration.

Pfizer's Bamboo Therapeutics develops gene therapies to treat rare genetic central nervous system (CNS) and neuromuscular diseases, including Giant Axonal Neuropathy (GAN), Canavan Disease, Friedreich's Ataxia and Duchenne Muscular Dystrophy (DMD).

Precision BioSciences utilizes a proprietary genome editing method called ARCUS to treat cancers and genetic diseases, and enable the development of safer, more productive food sources.

Rescindo Therapeutics discovers novel therapeutic targets and drugs for human genetic disorders based on humanized zebrafish in vivo modeling.

StrideBio develops engineered viral vectors for gene therapy for the treatment of rare diseases. StrideBio's technology engine utilizes structure-inspired design to engineer AAV vectors which can escape pre-existing neutralizing antibodies (NAbs).

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Gene Therapy | North Carolina Biotech Center

02/18/2019

AveXis, a leading gene therapy company developing treatments for rare and life-threatening neurological diseases, has announced it will launch a 200-job expansion of the manufacturing center it located in Durham County less than a year ago.

AveXis will invest an additional $60 million in the expansion of its facility.In May 2018, the Illinois-based company announced it was locating its new manufacturing center in Research Triangle Park, with plans to create 200 jobs and invest $55 million. The expansion announced today doubles that planned headcount.

Continued investment in our infrastructure in North Carolina will allow us to manufacture multiple gene therapies simultaneously, helping us reach more patients, faster, said Andy Stober, Avexis senior vice president of technical operations and chief technical officer. Gene therapy manufacturing requires a highly skilled team, and Research Triangle Park is an ideal location for our continued expansion as it enables us to recruit top talent, including through partnership with local schools and colleges.

A Novartis company headquartered in Bannockburn, Illinois, AveXis initial product candidate, AVXS-101, now known as Zolgensma, is an investigational gene replacement therapy for the treatment of spinal muscular atrophy (SMA) Type 1. Zolgensma is designed to address the genetic root cause of SMA Type 1, a deadly neuromuscular disease with limited treatment options.

The U.S. Food and Drug Administration has designated Zolgensma a breakthrough therapy, which allows expedited review by the FDA. Regulatory action is anticipated in May 2019.

Our primary focus is to bring gene therapies to patients suffering from devastating rare neurological genetic diseases, such as SMA, genetic amyotrophic lateral sclerosis and Rett syndrome, Stober said.

Gov. Roy Cooper said pioneering companies like AveXis keep our state at the forefront of promising new approaches like gene therapy, which opens up new ways for us to tackle tough diseases.

Im pleased to see a growing number of gene therapy companies join North Carolinas established industry cluster,said North Carolina Commerce Secretary Anthony M. Copeland, taking advantage of the world-class talent and educational resources available here.

The state Department of Commerce and the Economic Development Partnership of North Carolina led the states support for the companys expansion.

AveXis expansion will create a variety of positions in Durham County, including scientists, engineers, analysts, manufacturing and operations personnel.Salaries for the new positions will average $72,952, which is higher than the current Durham County average wage of $68,731.

The expansion will be supported, in part, by a Job Development Investment Grant (JDIG) of up to $1,447,500, spread over 12 years. Over the course of the 12-year term of this grant, the project will grow the states economy by an estimated $1.3 billion.

The grant uses a formula that takes into account the new tax revenues generated by the new jobs. State payments only occur after the company has met its incremental job creation and investment targets. AveXis must also remain in full compliance with its May 2018 JDIG in order to receive payments from todays grant.

Because AveXis chose to expand in Durham County, classified by the states economic tier system as Tier 3, the companys JDIG agreement for the expansion also calls for moving as much as $483,000 into the states Industrial Development Fund Utility Account.The Utility Account helps rural communities finance necessary infrastructure upgrades to attract future business.

The North Carolina Biotechnology Center provided technical due diligence for this project, one of several recent projects that adds depth to the states biotech industry cluster in the emerging area of gene therapy.

Partnering with Commerce and the EDPNC on this project were the North Carolina General Assembly, the NorthCarolina Community College System, the North Carolina Biotechnology Center, Durham County, and the Greater Durham Chamber of Commerce.

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Gene Therapy Innovator AveXis Plans 200-Job Expansion at ...

The UK Cystic Fibrosis Gene Therapy Consortium, Boehringer Ingelheim, Imperial Innovations and Oxford BioMedica Announce New Partnership to Develop First-In-Class Gene Therapy for Cystic Fibrosis

As many of you will know, the UK CF Gene Therapy Consortium (GTC) has brought together teams at Imperial College London and the Universities of Oxford and Edinburgh to vigorously pursue a single goal for the last 17 years, namely to establish whether gene therapy can become a clinically viable option for patients with CF. This form of treatment needs new copies of the CF gene to be introduced into the cells lining the lung, which is hard to achieve because these cells have evolved to keep external molecules out. The CF gene has to be carried past these defences, achievable either by surrounding it with fat (liposomes) or by inserting the CF gene inside a viral vector. Because of these defences, the GTC anticipated that successful gene therapy would require us to investigate several products, with incremental increases in knowledge helping us to overcome these barriers. We introduced the terms Wave 1 (the best liposome available at that time), and Wave 2 (the best viral vector we believe is currently available).

Supported by the CF community, and thereby predominantly funded by the Cystic Fibrosis Trust, we developed the Wave 1 product (the CF gene delivered via a liposome). Subsequently, funded by the National Institute for Health Researchs Efficacy and Mechanism Evaluation (EME) programme, we were able for the first time to demonstrate a significant benefit in lung function compared with placebo in the worlds largest CF gene therapy trial. Since the trial ended, we have spent considerable time presenting the product to the pharmaceutical industry, as it is these companies who have the resources to carry it through to the next step. The consistent response was that whilst they are impressed with the data, they wish to see a higher level of efficacy (which was slightly less than that produced by Orkambi). This boost could be produced by increasing the dose, increasing the dosing frequency, or trying a different type of liposome. We are exploring these possibilities and if this can be achieved, we will reopen these negotiations with a view to supporting a further clinical trial.

In parallel, we have been working for over a decade with a Japanese biotechnology company (DNAVEC, now called ID Pharma), building on knowledge from the Wave 1 programme, and have developed an alternative viral vector to deliver the CF gene (Wave 2 product). Support from the MRC DPFS programme and the Cystic Fibrosis Trust has brought this product to a stage where it can now undergo toxicology testing and larger-scale manufacturing; we have also recently received funding from the Health Innovation Challenge Fund, a collaboration between the Wellcome Trust and the Department of Health and Social Care, to undertake the next steps. We would also like to take this opportunity to warmly thank all of our supporters over many years, including Just Gene Therapy and Flutterby FUNdraisers.

It is now with great pleasure and excitement that we can add the next piece of the puzzle. The GTC is joining forces with two world class organisations in a major collaboration. We will work in partnership with Boehringer Ingelheim, who are an internationally renowned big pharma company with substantial expertise in bringing products through to patients, including in the respiratory field, and also with Oxford BioMedica who are the acknowledged leaders in the field of manufacturing the type of virus we have established as our Wave 2 product. The three partners are coming together to translate the Wave 2 product into clinical trials, and if successful, into routine clinical practice.

The GTC believes that this partnership provides CF patients with the optimal chance to establish gene therapy as routine clinical practice, relevant to all patients irrespective of their mutation status, and in due course to both prevent lung disease as well as treat established problems. Importantly, we can of course offer no guarantee of success, building this programme will not happen overnight and the therapy will only be focused on the problems occurring in the lungs.

We believe this new partnership of three world leading organisations has the greatest chance of realising a parallel new therapeutic pathway for CF patients, and better still, one that will add to the improvements already being seen with small molecule treatments. The gene therapy may have additional benefits: currently we envisage the effect of a single dose lasting for many months or even longer and it is unlikely that gene therapy will suffer from drug-drug interactions. We will regularly update on progress on this website as this exciting programme now unfolds.

7 months ago

The UKCFGTC is pleased to announce that we have received 2.7M to undertake a Phase l/lla nose trial in CF patients using our Wave 2 product, delivering the CFTR gene using a novel lentivirus. This latest support, which builds on many years of gene therapy funding from the Cystic Fibrosis Trust, the National Institute for Health Research(NIHR) and the Medical Research Council(MRC), has been awarded by the Wellcome Trust/Department of Healths Health Innovation Challenge Fund (HICF).

At the same time the Cystic Fibrosis Trusthave awarded an additional 0.5M to continue to support the scientific work underpinning this latest trial over the next two years.

We aim to recruit 24 patients into the Phase l/lla nose trial which will last around 9 months. The study will assess safety, and any changes in molecular endpoints, to provide evidence for the efficacy of the lentivirus. The start point of the trial will depend on the time required for manufacture of the Wave 2 product for clinical delivery; we will further update on timelines once these manufacturing data are available.

We are now focusing our research and development efforts on Wave 2, which has proved to be considerably more efficient than the Wave 1 product (delivering the CFTR gene via liposomes). However, the latter, which led to a stabilisation of lung function significantly different to the decline seen in a placebo group, continues to be discussed with potential commercial partners. We will update further on the outcome of these discussions as soon as possible.

1 year ago

The Consortium are pleased to announce the publication of the results from our multi dose gene therapy clinical trial inLancet Respiratory Medicine.

One hundred and thirty six patients aged 12 and above were randomly assigned to either 5ml of nebulised pGM169/GL67A (gene therapy) or saline (placebo) at monthly intervals over 1 year. Lung function was evaluated using a common clinical measure FEV1.

The clinical trial reached its primary endpoint with patients who received therapy having a significant, if modest benefit in lung function compared with those receiving a placebo. After a year of treatment, in the 62 patients who received the gene therapy, FEV1 was 3.7% greater compared to placebo.

The trial is the first ever to show that repeated doses of a gene therapy can have a meaningful effect on the disease and change the lung function of patients.

More details here.

3 years ago

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The UK Cystic Fibrosis Gene Therapy Consortium

A change or damage to a gene can affect the message the gene carries, and that message could be telling our cells to make a specific protein that the body needs in order to function properly. NAV Gene Therapy focuses on correcting these defects in genetic diseases by delivering a healthy, working copy of the gene to the cells in need of repair, which potentially enables the body to make the deficient protein. The NAV Technology Platform can also be used to deliver a gene that allows the body to produce a therapeutic protein to treat a specific disease.

Heres how the NAV Technology Platform works:

First, our scientists insert the gene of interest (that is, either the missing/defective gene or a gene to create a therapeutic protein) into a NAV Vector. A NAV Vector is a modified adeno-associated virus (AAV), which is not known to cause disease in humans. It is common for viruses to be used as vectors in gene and cell therapy. The NAV Vector acts as a delivery vehicle, transporting and unloading the gene into cells where the gene triggers production of the protein the body needs.

Our NAV Technology Platform includes more than 100 novel AAV vectors, including AAV8, AAV9 and AAVrh10, many of which are tailored to reach specific areas of the body where the gene is needed most. For example, gene therapy delivered to the liver has the potential to treat metabolic diseases like hemophilia, whereas gene therapy designed to reach the central nervous system (brain and spinal cord) may primarily impact symptoms of diseases that affect the brain and cognition.

Next, the NAV Vector is administered into the patient by injection or infusion, and is expected to make its way to cells that need the protein. The NAV Vector is designed to reach the target cells and deliver the gene it is carrying, enabling the cells to make the protein the body needs. These genes have the potential to correct disease by triggering production of a therapeutic protein or by allowing the bodys natural mechanisms to work the way they were intended.

Because gene therapies may have a long-term effect, a single administration of NAV Gene Therapy has the potential to do the same work as years of conventional chronic therapies.

Learn more about gene therapy below:

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Gene Therapy - REGENXBIO

Gene therapy has been studied for more than 40 years and can help stop or slow the effects of disease on the most basic level of the human bodyour genes. And to understand how it works, well start at the basics.

Genes are made up of DNA, which are blueprints to build enzymes and proteins that make our body work. As far as we know, humans have between 20,000 and 25,000 genes. We typically get two copies of each gene from our parents. They influence everything from the color of our hair to our immune system, but genes arent always built correctly. A small adjustment to them can change how our proteins work, which then alter the way we breathe, walk or even digest food. Genes can change as they go through inherited mutations, as they age, or by being altered or damaged by chemicals and radiation.

In the case that a gene changesalso known as mutatingin a way that causes disease, gene therapy may be able to help. Gene therapy is the introduction, removal or change in genetic materialspecifically DNA or RNAinto the cells of a patient to treat a specific disease. The transferred genetic material changes how a proteinor group of proteinsis produced by the cell.

This new genetic material or working gene is delivered into the cell by using a vector. Typically, viruses are used as vectors because they have evolved to be very good at sneaking into and infecting cells. But in this case, their motive is to insert the new genes into the cell. Some types of viruses being used are typically not known to cause disease and other times the viral genes known to cause disease are removed. Regardless of the type, all viral vectors are tested many times for safety prior to being used. The vector can either be delivered outside the body (ex-vivo treatment) or the vectors can be injected into the body (in-vivo treatment).

Other types of drugs are typically used to manage disease or infection symptoms to relieve pain, while gene therapy targets the cause of the disease. It is not provided in the form of a pill, inhalation or surgery, it is provided through an injection or IV.

What Counts as a Rare Disease?

Gene therapy treats diseases in patients that are rare and often life threatening. Rare is defined as any disease or disorder affecting fewer than 200,000 people in the U.S. by the National Institutes of Health. As of now, there are around 7,000 rare diseases, affecting a total of approximately one in ten people. Many of these rare diseases are caused by a simple genetic mutation inherited from one or both parents.

Show Answer

Which Diseases Have Gene Therapies?

Of gene therapies up for approval over the next five years, 45 percent are anticipated to focus on cancer treatments and 38 percent are expected to treat rare inherited genetic disorders. Gene therapy can help add to or change non-functioning genescreating a great opportunity to assist with rare inherited disorders, which are passed along from parents. The mutation might be present on one or both chromosomes passed along to the children. The majority of gene therapies are currently being studied in clinical trials.

Some of these inherited diseases include (but are not limited to):

Show Answer

Why Do We Use Viral Vectors?

As you know from cold and flu season, viruses are quite skilled in the art of invading our bodiesadding their genetic material into our cells. However, researchers have learned to harness this sneaky ability to our advantage. Viruses are often used as a vehicle to deliver good genes into our cells, as opposed to the ones that cause disease.

Viruses are sometimes modified into vectors as researchers remove disease-causing material and add the correct genetic material. In gene therapy, researchers often use adeno-associated viruses (AAV) as vectors. AAV is a small virus that isnt typically known to cause disease in the first place, significantly reducing a chance of a negative reaction.

Show Answer

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Gene Therapy Basics | Education | ASGCT American Society ...

Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes or to make a beneficial protein. If a mutated gene causes a necessary protein to be faulty or missing, gene therapy may be able to introduce a normal copy of the gene to restore the function of the protein.

A gene that is inserted directly into a cell usually does not function. Instead, a carrier called a vector is genetically engineered to deliver the gene. Certain viruses are often used as vectors because they can deliver the new gene by infecting the cell. The viruses are modified so they can't cause disease when used in people. Some types of virus, such as retroviruses, integrate their genetic material (including the new gene) into a chromosome in the human cell. Other viruses, such as adenoviruses, introduce their DNA into the nucleus of the cell, but the DNA is not integrated into a chromosome.

The vector can be injected or given intravenously (by IV) directly into a specific tissue in the body, where it is taken up by individual cells. Alternately, a sample of the patient's cells can be removed and exposed to the vector in a laboratory setting. The cells containing the vector are then returned to the patient. If the treatment is successful, the new gene delivered by the vector will make a functioning protein.

Researchers must overcome many technical challenges before gene therapy will be a practical approach to treating disease. For example, scientists must find better ways to deliver genes and target them to particular cells. They must also ensure that new genes are precisely controlled by the body.

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How does gene therapy work? - Genetics Home Reference - NIH

Nearly 20 years ago, scientists stunned the world when they announced they had decoded the genes that make up a human being. They hoped to use that genetic blueprint to advance something called gene therapy which locates and fixes the genes responsible for different diseases.

Now, a clinical trial at the National Institutes of Health is doing exactly that in an attempt to cure sickle cell anemia, a devastating genetic disease that kills hundreds of thousands of people around the world every year.

For the past 15 months we've been following the scientists, and patients, who are ushering in a genetic revolution.

Jennelle Stephenson: I'm excited.

Ray Stephenson Today is the big day.

It's the day after Christmas, 2017, and 27-year-old Jennelle Stephenson has come with her father and brother from Florida to the National Institutes of Health, just outside Washington, D.C.

Jennelle Stephenson: Good morning.

Dr. John Tisdale: Good morning.

She's one of a small group of patients to receive an infusion containing altered DNA.

Nurse: This is what they look like.

Jennelle Stephenson: Merry Christmas to me.

Brother: Best Christmas present ever.

Jennelle Stephenson: Yay.

The clear liquid in the bag contains Jennelle's stem cells that have been genetically modified.

Dr. John Tisdale: There are about 500 million in there.

Jennelle Stephenson: Oh, my goodness.

The hope is the new DNA in the cells will cure Jennelle of sickle cell anemia, a brutal disease that causes debilitating pain.

Dr. Jon LaPook: At its worst, on a scale of zero to 10, how bad was your pain?

Jennelle Stephenson: We can go beyond a 10. It's terrible, it's horrible.

Dr. Jon LaPook: Pain where?

Jennelle Stephenson: Everywhere. My back, my shoulders, elbows, arms, legs, even my cheekbones, just pain.

Dr. Jon LaPook: Can you actually describe it?

Jennelle Stephenson: It's a very sharp, like, stabbing, almost feels like bone-crushing pain. Feels like someone's kind of constricting your bones, and then releasing constantly.

Pain from sickle cell can occur anywhere blood circulates. That's because red blood cells, normally donut-shaped, bend into an inflexible sickle shape, causing them to pile up inside blood vessels. The resulting traffic jam prevents the normal delivery of oxygen throughout the body, leading to problems that include bone deterioration, strokes and organ failure.

The gene that causes sickle cell anemia evolved in places like sub-Saharan Africa because it protects people from malaria. There, millions have the disease, and it's estimated more than 50 percent of babies born with it die before the age of five.

In the United States, it affects a hundred thousand people, mostly African-Americans.

For Jennelle, having the disease as a child often meant spending Christmas in the hospital. As an adult, she struggled through pain to complete college, but keeping a job was tough because something as simple as walking up stairs could trigger "a pain crisis."

Dr. Jon LaPook: Do you have friends who've died from sickle cell?

Jennelle Stephenson: I do. Yes, younger than me.

Dr. Jon LaPook: And you've known this your whole life growing up?

Jennelle Stephenson: Right.

Dr. Jon LaPook: That you could potentially die early?

Jennelle Stephenson: Right. Yes.

Dr. Jon LaPook: Did you think you would die early?

Jennelle Stephenson: I did, actually. When I hit about 22, I was like, "You know, I'm-- for a sickle celler, I'm kind of middle-aged right now."

Dr. Jon LaPook: What are some of the things that you've always wanted to do that you couldn't do?

Jennelle Stephenson: Honestly, everybody laughs at me for this, I just want to run, to be honest.

Dr. Jon LaPook: Things that most people would take for granted.

Jennelle Stephenson: Just basic things.

One of the most cruel parts of the disease, Jennelle and other patients have told us, is being accused of faking pain to get narcotics, being labeled a "drug-seeker." During one trip to the emergency department, when she fell to the floor in pain, a doctor refused to help her.

Jennelle Stephenson: And I'm looking up at her, and I'm in tears, and, I'm like, "I'm doing the best that I can."

Dr. Jon LaPook: And you gotta be thinking.

Jennelle Stephenson: I just, sometimes I don't understand, I don't get it. Like... Sorry. I'm in so much pain, and you think I just want some morphine. And it just makes me sad that some people in the medical community just don't get it.

Dr. Francis Collins is director of the National Institutes of Health, the largest biomedical research agency in the world. He oversees a nearly 40 billion dollar budget that funds more than 400,000 researchers world-wide.

Dr. Collins was head of the Human Genome Project at the NIH in 2000 when he made a landmark announcement: after a decade of work, scientists had finally decoded the genes that make up a human being.

Dr. Jon LaPook: When did it all start for you?

Dr. Francis Collins: I got excited about genetics as a first-year medical student. A pediatric geneticist came to teach us about how genetics was relevant to medicine. And he brought patients to class and one of the first patients he brought was a young man with sickle cell disease who talked about the experience of sickle cell crises and how incredibly painful those are. And yet, it was all because of one single letter in the DNA that is misplaced, a "T" that should have been an "A." And that was profound. You could have all of that happen because of one letter that was misspelled.

The double helix of DNA is made up of billions of pieces of genetic information. What Dr. Collins is saying is, out of all that, it's just one error in the DNA code -- a "T" that should have been an "A" -- that causes sickle cell anemia. Fix that error, and you cure the disease.

But figuring out how to do that would take more than 20 years of research and a little serendipity.

Dr. Collins was playing in the NIH rock band in 2016 when his bass player -- hematologist Dr. John Tisdale -- started riffing on an idea.

Dr. John Tisdale: We'd finished setting up and went for a pizza before--

Dr. Francis Collins: I remember that.

Dr. John Tisdale: --before the gig. And at this point I pitched to Francis that it was really time that we do something definitive for sickle cell disease.

In the laboratory, Dr. Tisdale and his collaborators created a gene with the correct spelling. Then, to get that gene into the patient, they used something with a frightening reputation: HIV, the virus that causes AIDS. It turns out HIV is especially good at transferring DNA into cells.

Here's how it works. The corrected gene, seen here in yellow, is inserted into the HIV virus. Then, bone marrow stem cells are taken from of a patient with sickle cell anemia. In the laboratory those cells are combined with the virus carrying that new DNA.

Dr. John Tisdale: This virus will then find its way to one of those cells and drop off a copy or two of the correctly spelled gene. And then these cells will go back to the patient.

If the process works, the stem cells with the correct DNA will start producing healthy red blood cells.

Dr. Jon LaPook: I can hear people, our viewers out there, thinking, "Wait a second, how do you know you're not gonna get AIDS from the HIV virus?"

Dr. John Tisdale: The short answer is we cut out the bits that cause infection in HIV and we really replace that with the gene that's misspelled in sickle cell disease so that it transfers that instead of the infectious part.

Dr. Jon LaPook: The stakes here are enormous.

Dr. Francis Collins: Yes.

Dr. Jon LaPook: There's really very little safety net here, right?

Dr. Francis Collins: Make no mistake, we're talking about very cutting-edge research where the certainty about all the outcomes is not entirely there. We can look back at the history of gene therapy and see there have been some tragedies.

Dr. Jon LaPook: Deaths?

Dr. Francis Collins: Yes.

In 1999, 18-year-old Jesse Gelsinger received altered DNA to treat a different genetic disease. He died four days later from a massive immune response. And in another trial, two children developed cancer.

Jennelle Stephenson understands. This is a trial with huge risks and no guarantees.

Jennelle Stephenson: This is it.

When she arrived at the NIH clinical center in December 2017, Jennelle asked her brother, Ray, for some help.

Jennelle Stephenson: There goes Ray cutting my hair. Oh, snip.

She decided to cut off all her hair, rather than watch it fall out from the massive dose of chemotherapy needed to suppress her immune system so her body wouldn't reject the altered stem cells.

Jennelle Stephenson: I don't know how to feel right now. I'm a little emotional. But I'm OK, it will grow back.

A few days after the chemotherapy, Jennelle received the infusion of genetically modified cells.

Dr. John Tisdale: Is it going good now?

Nurse: Yes.

Jennelle Stephenson: It's just a waiting game.

But the wait was a painful one. Not only for Jennelle, but also for her father Ray. Who did what little he could as the effects of the chemotherapy kicked in, stripping Jennelle's throat and stomach of their protective layers.

Jennelle Stephenson: Oh, that hurts.

She was unable to speak for a week and lost 15 pounds. And because having a severely weakened immune system means even a mild cold can turn deadly, Jennelle had to stay in the hospital for nearly a month.

Last spring, she moved back to Florida and returned to the NIH for periodic check-ups.

Dr. John Tisdale: These are her red blood cells.

It didn't take long for Dr. Tisdale to notice something was happening.

Dr. Jon LaPook: This is Jennelle before any treatment?

Dr. John Tisdale: Right. All across her blood you can see these really abnormal shapes. This one in particular is shaped like a sickle.

Nine months later, this is what Dr. Tisdale saw: not a sickle cell in sight.

Dr. Jon LaPook: Was there ever a moment where you saw one of these normal-looking smears and thought, "Is this the right patient?"

Dr. John Tisdale: Oh, absolutely. When you're a scientist, you're skeptical all the time. So, first thing you do is look and make sure it's that patient, go grab another one, make sure it's the same. And we've done all that. And, indeed, her blood looks normal.

Jiu-Jitsu Teacher: Move. Switch your arms and move.

Remember, Jennelle used to struggle just to walk up a flight of stairs...

Jiu-Jitsu Teacher: And you fall.

...and a fall like this would have landed her in the hospital.

Jiu-Jitsu Teacher: Boom. Yeah. Good job. You did it. Bam.

Dr. Jon LaPook: Jennelle. You look amazing.

Jennelle Stephenson: Thank you.

Dr. Jon LaPook: I have to say, I was a little nervous when you were thrown and you went down on the mat.

Jennelle Stephenson: It was nothing. It was nothing. My body just felt strong.

Dr. Jon LaPook: Tell me about the adjustment that you need to make to go from the old you to the new you.

Jennelle Stephenson: My body it almost felt like it was, like, itching to do more. And I was like, "All right, well, let's go swimming today." "Let's go to the gym today." I'm like, all right, my body loves this. I kinda like it because my, I guess all my endorphins started pumping.

Dr. Jon LaPook: The endorphin high, something you had never experienced.

Jennelle Stephenson: Never experienced before. Yup.

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Could gene therapy cure sickle cell anemia? - 60 Minutes ...

NLM ID: 101574143Index Copernicus Value 2016: 84.15

Genetic Syndromes & Gene Therapy is an official peer-reviewed journal for the rapid publication of innovative research covering all aspects of Gene Mapping and Gene Therapy. Genetic Syndromes, Gene Mapping & Gene Therapy with highest impact factor offers Open Access option to meet the needs of authors and maximize article visibility and creates a platform for the authors to make their contribution towards the journal and the editorial office promises a peer review process for the submitted manuscripts for the quality of publishing.

Genetic Syndromes & Gene Therapy Journal is one of the best open access journals that aims to publish the most complete and reliable source of information on discoveries and current developments in the mode of original articles, review articles, case reports, short communications, etc. in the field and provide online access to the researchers worldwide without any restrictions or subscriptions.

Journal of Genetic Syndromes & Gene Therapy encompasses the continuous coverage of all biological and medical aspects of potential gene therapies for the birth defects along with genetic disorders which include treatments for cancers, arthritis, infectious diseases, inherited diseases like cystic fibrosis and Huntingtons disease, and also genetic abnormalities or deficiencies treated by incorporating specific engineered genes into the infected cells of patients body to people in electronic forms are immediately freely available to read download and share to improve the Open Access motto. The Journal of Genetic Syndromes & Gene Therapy provides reliable information updating online viewers with the modified methods and latest advancements in the field of gene therapy for diverse genetic disorders.

This Genetics journal is using Editorial Manager System for online manuscript submission, review and tracking. Editorial board members of the Genetic Syndromes & Gene Therapy or outside experts review manuscripts; at least two independent reviewers approval followed by editor approval is required for acceptance of any citable manuscript.

Environmental pollution is "the tainting of the physical and organic segments of the earth/air framework to such a degree, that ordinary natural procedures are antagonistically influenced.

Pollution is the introduction of pollutants into the environment that can cause harm or uneasiness to mankind or other living creatures and can also adversely affect usefulness of a resources of earth. Pollutants can be synthetic substances, or energy, for example: noise, heat or light.

Different types os Environmental pollution are:Air pollution, Water pollution, Noise pollution, Light pollution, Soil pollution, Radioactive pollution, Thermal pollution, Plastic pollution etc.

Down syndrome is one of the most common genetic disorder that affects both physical and mental ability. It is caused by a gene problem before birth.Generally a normal person posses 46 chromosomes but a person with Down Syndrome has 47 chromosomes.There are three different types of Down syndrome: trisomy, translocation, and mosaicism. Symptoms include short head,short neck,poor muscle tone, excessive flexibility etc.

Down Syndrome results when each cell in the body possess three copies of chromosome 21 instead of two copies. Extra copies of genes on chromosome 21 results in the disruption of normal function and development of the body which increases the risk of health problems. Down Syndrome occurs when part of chromosome gets attached to another chromosome during the formation of reproductive cells or embryo. Affected people possess two normal copies of chromosome 21 and one extra chromosome that is attatched to other.

Related Journals of Down Syndrome

Journal of Down Syndrome & Chromosome Abnormalities,Genetic Engineering, Stem Cell,American Journal of Medical Genetics, Down Syndrome Research and Practice,International Journal of Down Syndrome, International Medical Review on Down Syndrome, Down Syndrome Victoria, Journal of Intellectual Disability Research, Down syndrome Journals, Faseb Journal, Fetal Diagnosis and Therapy,Research paper on Down Syndrome,Latest Research on Down Syndrome

Genetic mutation is a permanent change in the DNA.Mutations may or may not produce changes in the organism.Hereditary mutations and Somatic mutations are the two types of Gene mutations.Former type is inherited from the parents and are present in every cell of the human body whereas latter type may occur at some point of life time due to environmental factors.

Certain enzymes repair gene mutations that could cause a genetic disorder. These enzymes identify and repair mistakes in DNA before the gene is expressed and an altered protein is produced. When a mutation alters a protein, it can disrupt normal development. Mutation may occur from a single DNA to a large segment of chromosome that involves multiple genes.

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Genetic Medicine, Genetic Engineering,Mutation Research/Genetic Toxicology and Environmental Mutagenesis, European Journal of Human Genetics, Genetics in Medicine, Human Mutation, Human Molecular Genetics, Genetic mutations Journals, Journal of Genetic Counseling,Genetic Journals, Genetic Disorder Articles,Journal of Genetic Mutation Disorders

Sickel cell anemia is a blood disorder caused by an abnormality in haemoglobin molecule in red blood cells.Person inherited by Sickle-cell disease has two abnormal copies of haemoglobin gene.Normal red blood cells are round and flexible whereas sickled red blood cells appear in sickle-shape.Abnormal haemoglobin forms strands that change red blood cells to that form and hence they accumulate at the branches of the veins and blocks the flow of blood.As haemoglobin is responsible for carrying of oxygen throught out the body,there may be chronic attacks due to lack of oxygen supply.

Mutations in HBB gene results in Sickle Cell disease. Haemoglobin consists of four subunits.Two subunits are Alpha-globin and other two are Beta-globin. HBB gene is responsible for making instructions in the production of Beta-globin. Hence mutations in HBB gene results in different abnormal versions of beta-globin.These abnormal versions may distort red blood cells into sickle shape.

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Genetic Medicine, Genetic Engineering,Blood, American Journal of Epidemiology, American Society of Hematology, Journal of Clinical Pathology, Human Molecular Genetics, New England Journal of Medicine Science, Sickel cell anemia Journals

It is a type of disease that causes progressive weakness and loss of muscle mass. Here the process of mutation get involved in the production of proteins that are required to build a healthy muscle.Some types of Muscular dystrophy are Myotonic, Facioscapulohumeral , Congenital, Limb-girdle. It occurs when one of the genes responsible for production of proteins is defective.But some of them occur in the early stage of embryo and is passed to the next generation.

Duchenne Muscular Dystrophy is the most common form and mostly affect boys. It is caused due to the absence of dystrophin,a protein involved in maintining the integrity of muscle. Facioscapulohumeral Muscular Dystrophy generally begins at the teenage age and causes progressive weakness in muscles of face, arms, legs, shoulders and chest. Myotonic Muscular Dystrophy is the most common form and causes cataracts, cardiac abnormalities and endocrine substances.

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Carcinogenesis, Genetic Engineering,Journal of Medical Genetics, Molecular Therapy, Human Molecular Genetics, Human Genetics, American Journal of Human Genetics, PLOS Currents: Muscular Dystrophy, Muscular dystrophy Journals

Cystic fibrosis is a disorder caused by the presence of mutations in both the copies of the gene which is responsible for the protein cystic fibrosis transmembrane conductance regulator.It affects the cells that produce mucus, sweat and digestive juices.These fluids are thin and slippery but a defective gene causes these secretions to become thick ,thus blocking the passages in the lungs and pancreas.

Mutations in CFTR gene results in Cystic fibrosis. CFTR gene enables instructions for transportation of chloride ions into and out of the cells. Mutations in the CFTR gene disrupts the function of chloride channels that prevents the flow of chloride ions and water across cell membranes. As a result organs produce mucus that is thick and sticky which clogs the airways and ducts resulting isevere chronic attacks.

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Carcinogenesis, Genetic Engineering,Journal of Cystic Fibrosis, American Journal of Medical Genetics, European Journal of Human Genetics, American Journal of Human Genetics, American Journal of Respiratory and Critical Care Medicine, Journal of Genetic Counseling

An Auto immune disease develops when the immune system responsible for defending the body against diseases fights against the healthy cells. Here the immune system fails to differentiate healthy tissues and antigens, as a result the body sets off a reaction that destroy normal tissues.Some unknown trigger happens to confuse the immune system and instead of fighting against the infections it destroys the bodys own tissues.

Areas often affected by autoimmune disease include blood vessels, connective tissues, endocrine glands, joints, muscles, red blood cells, skin. Some common symptoms of autoimmune disease include fatigue, fever, joint pain, and rash. Some common autoimmune disorders include Addisons disease, Multiple Sclerosis, Type 1 diabetes, Sjogren syndrome, Reactive Arthritis, Dermatomyositis, Pernicious anemia, Celiac disease. This disorder may result in destruction of body tissue, abnormal growth of an organ, changes in organ function.

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Genetic Medicine, Genetic Engineering,Journal of Autoimmunity, Journal of Autoimmune Diseases, Journal of Autoimmune Diseases and Rheumatology, Open Journal of Rheumatology and Autoimmune Diseases, Advances in Immunology, International Immunology, Auto immune disease Journals

Mitochiondrial disease is a group of disorder caused by dysfunctional mitochondria. Mytochondria are responsible for generation of 90% of energy required by the body to sustain life and growth.These are also known as the power house of the cell.They contain tiny packages of enzymes that converts nutrients into energy. This disease is caused by mutations in mitochondrial DNA and its failure in function may ultimately lead to cell death.

Symptoms include loss of motor control, muscle weakness and pain,swallowing difficulties,liver disease,diabetes,cardiac disease,gastro-intestinal disorders and developmental delay.Ecamples on mitochondrial diseases include dementia,Diabetes mellitus and deafness,Leigh syndrome,neuropathy,Myoclonic epilepsy,strke-like symptoms,mtDNA deletion.

Related Journals of Mitochiondrial Disease

Genetic Engineering, Stem Cell, Mitochondrion, Disease and Molecular Medicine, International Review of Cytology-a Survey of Cell Biology, Journal of Inherited Metabolic Disease, Journal of Bioenergetics and Biomembranes, Molecular Genetics and Metabolism, Mitochiondrial disease Journals

Congenial syndromes is a disease that exists before birth.These are characterized by structural deformities and defects are involved in developing fetus.Defects may be due to genetic or environmental factors.The outcome of the disorder may be because of mothers diet, vitamin intake,glucose levels prior to ovulation. Paternal exposures prior to conception and during pregnancy increases the risk of this disease.It is caused by multiple mutations of the fibroblast growth factor receptor 2 gene.

Defects may include errors of morphogenesis,infection,epigenetic modifications or a chromosomal abnormality.The causes of this syndrome may be due to Fetal alcohol exposure,Toxic substances,Paternal smoking,Infections,Lack of nutrients,Physical restraint,Genetic causes,Socioeconomic status,Role of radiation,Fathers age.

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Genetic Engineering, Stem Cell,Abdominal Imaging, Nature Genetics, Community Genetics, Faseb Journal, Mammalian Genome, Journal of Theoretical and Philosophical Psychology, Congunial syndromes Journals

Reye syndromes is a disease that causes swelling of the brainand liver .The actual cause is unknown but studies has shown that Aspirin is related to the cause of this disease generally in children and teenagers recovering from flu illness.The symptoms are vomiting, nausea, confusion,lethargy,coma, irritable and aggressive behavior.Abnormal laboratoty tests include rise in lever enzymes, ammonia levels and low serum glucose levels.

It is believed that tiny structures within the cell called the mitochondria become damaged. Mitochondria provide cells with energy to the liver for many of the vital functions such as filtering toxins from blood and regulating blood sugar levels. Failure of energy supply to the liver may result in build up of toxic chemicals in the blood which can damage the entire body.It is often seen in children ages 4 to 12. Symptoms are so mild that they go unnoticed. Early detection and treatment are critical but the chances for a successful recovery are greater when Reye Syndrome is treated at its earliest stages. Complications may include coma, permanent brain damage, seizures.

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Carcinogenesis, Genetic Engineering,Brain & Development, Annals of Neurology, Journal of Pediatric Gastroenterology & Nutrition, Brazilian Journal of Infectious Diseases, Archives of Disease in Childhood, Journal of The Neurological Sciences, Reye syndromes Journals

Patau syndromes is a disorder caused by chromosomal abnormality.It occurs when some or all the cells contain extra copy of the chromosome 13.This restricts the normal functioning ,growth and development of the organs resulting in intellectual disability and physical abnormalities. It is also called Trisomy 13.It also can occur when part of chromosome gets attatched to another chromosome during the formation of embryo.

Most cases of trisomy 13 are not inherited and results from the random events during the formation of eggs and sperm. An error in cell division may result in abnormal number of chromosome. If this extra copy contributes in the genetic makeup of child then the child possess an extra chromosome 13 in each cell of the body resulting in the physical abnormalities in most of the parts.

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Genetic Engineering, Stem Cell,Brain Research, Annals of Human Genetics, Prenatal Diagnosis, Clinical Dysmorphology, Fetal Diagnosis and Therapy, Journal of Intellectual Disability Research, Patau syndromes Journals

Fragile syndrome is a genetic disorder that results in intellectual disability.Mutations in the FMRI gene causes this disease. This gene is responsible for the preparation of a protein ,FMRP.This protein regulates the production of other proteins and is necessary for the development of synapses which are the connections between nerve cells.Mutations in FMRI prevents the production of FMRP ,thus disturbing the nervous system.

Males are severely affected by this disorder than females.Affected individuals usually have delayed development of speech and language by age 2.Children with fragile X syndrome may also have anxietyand hyperactive behavior such as impulsive actions. Fragile X syndrome is inherited in an X-linked dominant pattern. This condition is considered as X-linked since the mutated gene that causes the disorder is located on X chromosome.

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Genetic Engineering, Stem Cell,Human Genetics, American Journal of Medical Genetics, Human Molecular Genetics, American Journal of Human Genetics, Nature Genetics, Journal of Medical Genetics, Fragile syndrome Journals

Angelman syndrome is a genetic disorder that affects the nervous system.Characteristic features include happy demeanor,intelluctual disability,speech impairment,walking and balancing disorders.This arises when segment of the maternal chromosome 15 containing the gene UBE3 A is deleted or undergoes mutation.People inherit one copy of this gene from each parent and both the copies remain active in many of the body tissues.But due to genetic mutations, gene may become active or get deleted in some parts of the brain resulting in intellectual disability.

Angelman Syndrome may also be caused by a chromosomal rearrangement called a translocation or by a mutation or other defect in the region of DNA that controls the activation of UBE3A gene. In some people with angelman syndrome the loss of a gene called OCA2 is associated with light colored hair and fair skin. This gene is located on the segment of chromosome 15 that is deleted in people with this disorder. Most cases of this syndrome are not inherited.

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Carcinogenesis, Genetic Engineering,European Journal of Human Genetics, Brain & Development, Journal of Child Neurology, Cytogenetic and Genome Research, Neurobiology of Disease, American Journal on Mental Retardation, Angelman syndrome Journals

Tay-Sachs is a genetic disorder that destroys the nerve cells in the brain and spinal cord. Characteristic features include weakening of muscles,intellectual disability,vision and hearing loss,paralyses.Mutations in the HEXA gene causes this disease .This gene is responsible for the production of an enzyme in lysosome which plays a critical role in the brain and spinal cord.This enzyme breaks down the toxic substances in the cell.Mutations in the HEXA gene causes failure in the production of enzyme resulting in the accumulation of toxic substances in the cells leading to damage in the neurons of the brain and spinal cord.

Since Tay-Sachs disease impairs the function of a lysosomal enzyme this condition is sometimes referred to as a lysosomal storage disorder.This condition is inherited in which both the copies if the gene undergoes mutations. Persons with Tay- Sachs disease experience vision and hearing loss, intellectual disability and paralysis. An eye abnormality called a cherry-red spot is the characteristic feature of this disorder.

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Carcinogenesis, Genetic Engineering,Human Molecular Genetics, Sao Paulo Medical Journal, Journal of Neurochemistry, Journal of Molecular Biology, New England Journal of Medicine, Mammalian Genome - MAMM GENOME, Tay-Sachs Journals

Prenatal genetic testing is meant to evaluate the chance of exhibiting genetic disorders in their unborn children.The tests are usually done between 10th and 13th week of pregnancy . These tests involves the measurement of certain levels of substances in the mothers blood and obtaining an ultrasound.These tests are meant to evaluate the genetic material of the fetus for any genetic disorders.It is also useful to diagnose high risk pregnancies.

Genetic tests are performed on a sample of blood,hair,skin,amniotic fluid or other tissue.A positive test result means that the laboratory found a change in a particular gene, chromosome or a protein. A negative test result means that the laboratory did not find a change in the gene, chromosome or a protein that is under consideration.

Related Journals of Prenatal Genetic Testing

Carcinogenesis, Genetic Engineering,Obstetrics & Gynecology, Genetic Testing, Fetal Diagnosis and Therapy, Clinical Genetics, Prenatal Diagnosis, Journal of Midwifery & Womens Health, Prenatal genetic testing Journals,Genetic Testing Articles,Genetic Journals

Genes hold DNA that are responsible for giving instructions in the production of proteins.Mutations in genes may cause failure in the working of proteins leading to a condition called genetic disorder.These disorders may be inherited form parents or may occur at any point of lifetime.Genetic disorder may result in the addition or reduction in the number of chromosomes.

The four groups of genetic disorders are Single gene disorders, chromosome abnormalities, mitochondrial disorders, and multifactorial disorders. The four main ways of inheriting an altered gene are autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive. Genetic disorders may or may not be heritable. In non-heritable genetic disorders defects may be due to mutations in the DNA.

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Genetic Engineering, Stem Cell, Journal of Genetic Disorders & Genetic Reports, Journal of Medical Genetics, Journal of Genetic Mutation Disorders, Source Journal of Genetic Disorders, Genetic Disorders, Genes and Diseases, Genetic disorders Journals,Genetic Disorder Articles

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Journal of Genetic Syndromes & Gene Therapy

Gene therapy is the addition of new genes to a patient's cells to replace missing or malfunctioning genes. Researchers typically do this using a virus to carry the genetic cargo into cells, because thats what viruses evolved to do with their own genetic material.

The treatment, which was first tested in humans in 1990, can be performed inside or outside of the body. When its done inside the body, doctors may inject the virus carrying the gene in question directly into the part of the body that has defective cells. This is useful when only certain populations of cells need to be fixed. For example, researchers are using it to try to treat Parkinson's disease, because only part of the brain must be targeted. This approach is also being used to treat eye diseases and hemophilia, an inherited disease that leads to a high risk for excess bleeding, even from minor cuts.

Early in-the-body gene therapies used a virus called adenovirusthe virus behind the common coldbut the agent can cause an immune response from the body, putting a patient at risk of further illness. Today, researchers use a virus called adeno-associated virus, which is not known to cause any disease in humans. In nature, this agent needs to hitch a ride with an adenovirus, because it lacks the genes required to spread itself on its own. To produce an adeno-associated virus that can carry a therapeutic gene and live on its own, researchers add innocuous DNA from adenovirus during preparation.

In-the-body gene therapies often take advantage of the natural tendency of viruses to infect certain organs. Adeno-associated virus, for example, goes straight for the liver when it is injected into the bloodstream. Because blood-clotting factors can be added to the blood in the liver, this virus is used in gene therapies to treat hemophilia.

In out-of-the-body gene therapy, researchers take blood or bone marrow from a patient and separate out immature cells. They then add a gene to those cells and inject them into the bloodstream of the patient; the cells travel to the bone marrow, mature and multiply rapidly, eventually replacing all of the defective cells. Doctors are working on the ability to do out-of-the-body gene therapy to replace all of a patient's bone marrow or the entire blood system, as would be useful in sickle-cell anemiain which red blood cells are shaped like crescents, causing them to block the flow of blood.

Out-of-the-body gene therapy has already been used to treat severe combined immunodeficiencyalso referred to as SCID or boy-in-the-bubble syndromewhere patients are unable to fight infection and die in childhood. In this type of gene therapy, scientists use retroviruses, of which HIV is an example. These agents are extremely good at inserting their genes into the DNA of host cells. More than 30 patients have been treated for SCID, and more than 90 percent of those children have been cured of their disorderan improvement over the 50 percent chance of recovery offered by bone marrow transplants.

A risk involved with retroviruses is that they may stitch their gene anywhere into DNA, disrupting other genes and causing leukemia. Unfortunately, five of the 30 children treated for SCID have experienced this complication; four of those five, however, have beaten the cancer. Researchers are now designing delivery systems that will carry a much lower risk of causing this condition.

Although there are currently no gene therapy products on the market in the U.S., recent studies in both Parkinson's disease and Leber congenital amaurosis, a rare form of blindness, have returned very promising results. If these results are borne out, there could be literally hundreds of diseases treated with this approach.

More here:
How does gene therapy work? - Scientific American

Lexis Conferencesareproudly announcedthe conference The Gene Therapy and Epigenetics 2019 which is going to take place in London, UK during September 9-10, 2019. Lexis invites the conventioneer from around the globe to attend The Gene Therapy and Epigenetics 2019 with the Theme: Novel Approaches in Human Genome and Genetic Disorders.

Gene Therapy and Epigenetics Conferences will incorporate incite Keynote presentations/Plenary talks, Workshops, Symposiums, Special sessions, Poster presentations, Video sessions, and Exhibitions. This trending topic needs an exchange of ideas, discussions, and debates to reach the new dimension in the topic. The Gene Therapy and Epigenetics 2019 is a platform to showcase your abilities to the competitive world.

ABOUT GENE THERAPY AND EPIGENETICS CONFERENCE 2019:

Gene therapyisa unique technique used in medical treatment that uses specific types of genes to treat several types of diseases. Gene therapy advancement is meant to cure rare diseases and even some inherited diseases, which are caused by a mutated or faulty gene.Gene Therapyis also used to treat several Genetics disorders, wherein the mutated defective gene is replaced with the functional gene.

Gene therapyis the one which most vast topics carried out by researchers all over the world for the prevent or treat of several diseases such as immune deficiencies, hemophilia, Parkinsons disease, Cancer, and even HIV, through different approaches. Three primary approaches that are being studied and practiced in thegene therapyare replacement of the mutated disease-causing gene with the healthy gene, inactivation of the mutated gene, and introduction of the new gene to fight against the disease. In the gene therapy treatment, a functional gene is inserted into the genome of an individuals cells and tissues by using a carrier known as vector. Viruses are the most common type of vectors used ingene therapy, which is genetically altered to carry the normal human DNA.

Over the last few years,gene therapyhas emerged as a promising treatment option for several diseases including inherited disorders and certain types of cancers and viral infections. Scientists use these techniques to readily manipulate viral genomes, isolate genes and identify mutations involved in human disease, characterize and regulate gene expressions, and engineer various viral and non-viral vectors. Various long-term treatments for anemia, hemophilia, cystic fibrosis, muscular dystrophy, Gaucher's disease, lysosomal storage diseases, cardiovascular diseases, diabetes and diseases of bones and joints are resolved through successful gene therapy and are elusive today.

Epigenetics is an extension of genetics and developmental biology, which involves the study of cellular and physiological trait variations initiated by external or environmental stimuli. Epigenetics deals with changes in gene expression caused by certain base pairs in DNA & RNA, which are turned off or turned on, through chemical reactions contrary to being affected by changes in the nucleotide sequence. Epigenetic alterations result into a change in phenotype, with the genotype of the organism being constant. Epigenetics changes are influenced by different factors, such as age, surrounding environment, lifestyle, disease state, and others.

Epigenetics can possibly be a key component in a worldview change of our comprehension of health and disease and generally change public health policies. Epigenetic modifications are ordinarily utilized amid the advancement and support of various cell composes, however defective epigenetic control can cause enduring harm, prompting tumor and different illnesses ranging from metabolic scatters, for example, diabetes to coronary illness and psychological well-being conditions.

DNA methylation and histone modification, for instance, are epigenetic forms wherein the alteration in gene expression is observed without the adjustment in the DNA Sequence. Ascend in tumor pervasiveness; enhanced financing and helps for R&D activities, a flood in an association between scholarly, pharmaceutical, and biotechnology organizations, and expanded utilization of epigenetics in non-Oncology infections are the key factors that impel the development of this market.

Epigenetics is the study of heritable changes in gene expression that do not involve changes to the underlying DNA Sequence. Which in turn affects how cells read the genes. Epigenetic modifications can manifest as commonly as the manner in which cells terminally differentiate to end up as skin cells, liver cells, brain cells, etc. Or, epigenetic change can have more damaging effects that can result in diseases like cancer. At least three systems including DNA methylation, histone modification and non-coding RNA (ncRNA)-associated gene silencing are currently considered to initiate and sustain epigenetic change. New and ongoing research is continuously uncovering the role of epigenetics in a variety of human disorders and fatal diseases.

WHO TO ATTENDGENE THERAPY AND EPIGENETICSEVENT:

DETAILS OF EPIGENETICS CONFERENCE 2019 IN LONDON, UK:

Lexisis organizing Gene Therapy and Epigenetics Conferencein 2019 in London. We organize Genetics and Molecular Biology Meetingslike Human Genetics, Stem Cell research, Cell and Gene Therapies, Epigenetics, Proteomics and in Biologylike Structural, Molecular, Cell, Plant and Animal.

IMPORTANCE AND SCOPE OF THE GENE THERAPY AND EPIGENETICS EVENT:

The global Gene Therapy market size was esteemed at USD 7.6 million of every 2017. It is evaluated to grow at a CAGR of more than 19.0% during the forecast period. Gene therapy marketsize is relied upon to achieve USD 39.54 million by 2026. Rising rivalry among makers and a high number of atoms in the pipeline is supporting the growth of the market.

Gene Therapy development is planned to cure rare diseases and even some inherited diseases, which are caused by a mutated or faulty gene. In addition, the consistently expanding requirement for new solutions for vagrant ailments and the rising incidence of cancer caused because of transformations in genes are probably going to mix up the interest for gene therapy.

As of early 2016, there was an excess of 1000 molecules in the pipeline in various clinical phases. However, around 76.0% of the atoms are in the formative or preclinical stages and anticipated that would hit the market in the late 2020's.

The global Epigenetics showcase was esteemed at US$ 4.63 Billion in 2017 and is expected to achieve US$ 16.50 Billion by 2026, growing at a CAGR of 15.03 % from 2018 to 2026.

North America(US and Canada) is the present pioneer in the worldwide epigenetics market and anticipated that would demonstrate predominance over the forecast period. Higher acknowledgment of more up to date advancements enormous interest in R&D and developed social insurance framework are the key factors contributing to the strength of this region.

On the other hand, Asia Pacific is anticipated to demonstrate the fastest market growth over the conjecture time frame fundamentally because of expanding human services spending and creating medicinal services framework. Noteworthy CRO activities in hubs, for example, Indiaalso feature the rapid pace of Asia Pacific market.

The epigenetics market is fragmented in view of product, application, end user, and topography. In view of the item, it is separated into proteins, kits & assays, instruments, and reagents.

Based on the end user, the market is arranged into academic & research institutes, pharmaceutical organizations, biotechnology companies & contract research organizations (CROs). Geographically, the market is analyzed across North America, Europe (Germany, UK, France, and Rest of Europe), Asia-Pacific (Japan, China, India, and rest of the APAC), and LAMEA.

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Genetics Conferences 2019: Gene Therapy, Cell Therapy ...