StemCell Therapy

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.

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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.

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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):

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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.

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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.

Read the original:
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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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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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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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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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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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.

Related Journals of Congenial Syndromes

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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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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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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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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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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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.

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

Gene therapy, the use of genetic material to treat a disease or disorder, is making strides in muscular dystrophy. Although the approach is still considered experimental, studies in animal models have shown promising results and clinical trials in humans are underway.

Gene therapy has the potential to help people with inherited disorders, in which a gene mutation causes cells to produce a defective protein or no protein at all, leading to disease symptoms.

To deliver the genetic material to the cells, scientists use a tool called a vector. This is typically a virus that has been modified so that it doesnt cause disease. It is hoped that the vector will carry the therapeutic gene into the cells nucleus, where it will provide the instructions necessary to make the desired protein.

The most common form of muscular dystrophy, Duchenne muscular dystrophy, is caused by a mutation in the DMD gene, which codes for a protein called dystrophin. Dystrophin is part of a protein complex that strengthens and protects muscle fibers. When the cells dont have functional dystrophin due to the gene mutation, muscles progressively weaken. Scientists think that supplying a gene that codes for a functional form of dystrophin might be an effective treatment for Duchenne muscular dystrophy.

Using gene therapy to deliver a correct form of the dystrophin gene has been challenging because of the size of the DMD gene, which is the largest gene in the human genome so it does not fit into commonly used vectors.

Scientists are having more success with a shortened version of the DMD gene that produces a protein called micro-dystrophin. Even though its a smaller version of dystrophin, micro-dystrophin includes key elements of the protein and is functional.

Administering a gene for micro-dystrophin to golden retriever dogs that naturally develop muscular dystrophy showed promising results in a study published in July 2017. Muscular dystrophy symptoms were reduced for more than two years following the treatment and the dogs muscle strength improved. The gene was delivered using a recombinant adeno-associated virus, or rAAV, as the vector.

A similar therapy is now being tested in people in a Phase 1/2 clinical trial (NCT03375164)at Nationwide Childrens Hospital in Columbus, Ohio. A single dose of the gene therapytreatment containing the gene encoding for micro-dystrophinwill be infused into the blood system of 12 patients in two age groups: 3 months to 3 years, and 4 to 7 years. The first patient in the trial, which is recruiting participants, already has received the treatment, according to a January 2018 press release.

The biopharmaceutical company Sarepta Therapeutics is contributing funding and other support to the project.

Sarepta is developing another potential gene therapy for Duchenne muscular dystrophy where rather than targeting the DMD gene that codes for dystrophin, the therapy will be used to try to increase the expression of a gene called GALGT2. The overproduction of this gene is thought to produce changes in muscle cell proteins that strengthen them and protect them from damage, even in the absence of functional dystrophin.

A Phase 1/2a clinical trial (NCT03333590) was launched in November 2017 at Nationwide Childrens Hospital for the therapy, called rAAVrh74.MCK.GALGT2.

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Muscular Dystrophy Newsis strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is 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.

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Gene Therapy in Muscular Dystrophy

Gene therapy is an experimental technique that aims to treat genetic diseases by altering a disease-causing gene or introducing a healthy copy of a mutated gene to the body. The U.S. Food and Drug Administrationapprovedthe first gene therapy for an inherited disease a genetic form of blindness in December 2017.

Sickle cell anemia is caused by a mutation in the HBB gene which provides the instructions to make part of hemoglobin, the protein in red blood cells that carries oxygen.

Researchers are working on two different strategies to treat sickle cell anemia with gene therapy. Both of these strategies involve genetically altering the patients own hematopoietic stem cells. These are cells in the bone marrow that divide and specialize to produce different types of blood cells, including the red blood cells.

One strategy is to remove some of the patients hematopoietic stem cells, replace the mutated HBB gene in these cells with a healthy copy of the gene, and then transplant those cells back into the patient. The healthy copy of the gene is delivered to the cells using a modified, harmless virus. These genetically corrected cells will then hopefully repopulate the bone marrow and produce healthy, rather than sickled, red blood cells.

The other strategy is to genetically alter another gene in the patients hematopoietic stem cells so they boost production of fetal hemoglobin a form of hemoglobin produced by babies from about seven months before birth to about six months after birth. This type of hemoglobin represses sickling of cells in patients with sickle cell anemia, but most people only produce a tiny amount of it after infancy. Researchers aim to increase production of fetal hemoglobin in stem cells by using a highly specific enzyme to cut the cells DNA in the section containing one of the genes that suppress production of fetal hemoglobin. When the cell repairs its DNA, the gene no longer works and more fetal hemoglobin is produced.

Gene therapy offers an advantage over bone marrow transplant, in that complications associated with a bone marrow donation now the only cure for the disease such as finding the right match are not a concern.

Twelve clinical trials studying gene therapy to treat sickle cell anemia are now ongoing. Nine of the 12 are currently recruiting participants.

Four trials (NCT02186418, NCT03282656, NCT02247843, NCT02140554) are testing the efficacy and safety of gene therapy to replace the mutated HBB gene with a healthy HBB gene. These Phase 2 trials are recruiting both children and adults in the United States and Jamaica.

Three trials (NCT02193191, NCT02989701, NCT03226691) are investigating the use ofMozobil (plerixafor) in patients with sickle cell anemia to increase the production of stem cells to be used for gene therapy. This medication is already approved to treat certain types of cancer. All three are recruiting U.S. participants.

One trial (NCT00669305) is recruiting sickle cell anemia patients in Tennessee to donate bone marrow to be used in laboratory research to develop gene therapy techniques.

The final study(NCT00012545) is examining the best way to collect, process and store umbilical cord blood from babies with and without sickle cell anemia. Cord blood contains abundant stem cells that could be used in developing gene therapy for sickle cell anemia. This trial is open to pregnant women in Maryland both those who risk having an infant with sickle cell anemia, and those who do not.

One clinical trial (NCT02151526) conducted in France is still active but no longer recruiting participants. It is investigating the efficacy of gene therapy in seven patients. For the trial, a gene producing a therapeutic hemoglobin that functions similarly to fetal hemoglobin is introduced into the patients stem cells. A case studyfrom one of the seven was published in March 2017; it showed that the approach was safe and could be an effective treatment option for sickle cell anemia.

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Sickle Cell Anemia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is 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.

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Gene Therapy - Sickle Cell Anemia News

NEWARK,March 15, 2018 The New Jersey Innovation Institute, (NJII) an NJIT Corporation, has announced that its Cell and Gene Therapy Development Center has launched a training program to upgrade the knowledge and skills of biopharmaceutical professionals in the processing of new, breakthrough classes of biologic therapies.

The workforce training program is in response to increasing demands from the biopharmaceutical industry for engineers and scientists to be trained in manufacturing and processing of the newest biologic and immunotherapies such as advanced CAR-T cancer therapy. The program will combine lectures and hands-on training to introduce the newest approaches and technologies applied to the development and production of these innovative therapies.

NJII President and CEO, Dr. Donald H. Sebastian said, The pharmaceutical industry faces formidable challenges as it adapts to the new culture of biotechnology. This training initiative demonstrates NJIIs commitment to advance cell and gene therapy manufacturing and processing innovation.

Dr. Haro Hartounian, NJIIs executive director, biotechnology and pharmaceutical innovation stated, The pace of development in cell and gene therapy is unprecedented in the biopharmaceutical industry. It is imperative that engineers and scientists are proficient not only in in the latest processing techniques, but that they also acquire a basic understanding of the underlying protocols. Our instructional team composed of industry and university faculty experts is ideally structured to meet the needs of the industry for training of their workforce in the manufacturing and processing of these novel biopharmaceuticals.

The New Jersey Innovation Institute (NJII) is an NJIT corporation that applies the intellectual and technological resources of the states science and technology university to challenges identified by industry partners. Through its Innovation Labs (iLabs), NJII brings NJIT expertise to key economic sectors, including healthcare delivery systems, bio-pharmaceutical production, civil infrastructure,defense and homeland security, and financial services.

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New Jersey Innovation Institutes Cell & Gene Therapy ...

Scientists have promised that gene therapy will be the next big leap for medicine. It's a term that's tossed about regularly, but what is it exactly? Trace shows us how scientists can change your very genetic code.

Read More:

How does gene therapy work?http://ghr.nlm.nih.gov/handbook/thera..."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."

Gene therapy trial 'cures children'http://www.bbc.co.uk/news/health-2326..."A disease which robs children of the ability to walk and talk has been cured by pioneering gene therapy to correct errors in their DNA, say doctors."

Gene therapy cures diabetic dogshttp://www.newscientist.com/article/d..."Five diabetic beagles no longer needed insulin injections after being given two extra genes, with two of them still alive more than four years later."

Gene Therapy for Cancer: Questions and Answershttp://www.cancer.gov/cancertopics/fa..."Gene therapy is an experimental treatment that involves introducing genetic material into a person's cells to fight or prevent disease."

How does gene therapy work?http://www.scientificamerican.com/art..."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 that's what viruses evolved to do with their own genetic material."

Gene therapy cures leukaemia in eight dayshttp://www.newscientist.com/article/m...eight-days.htmlWITHIN just eight days of starting a novel gene therapy, David Aponte's "incurable" leukaemia had vanished. For four other patients, the same happened within eight weeks, although one later died from a blood clot unrelated to the treatment, and another after relapsing.

Cell Therapy Shows Promise for Acute Type of Leukemiahttp://www.nytimes.com/2013/03/21/hea..."A treatment that genetically alters a patient's own immune cells to fight cancer has, for the first time, produced remissions in adults with an acute leukemia that is usually lethal, researchers are reporting."

Watch More:Tricking the Immune Systemhttp://www.youtube.com/watch?v=Kr_HRl...Babies with 3 Parents?!http://www.youtube.com/watch?v=jQxsW_...Pick Your Poison: Cyanidehttp://www.youtube.com/watch?v=JDBrdE...____________________

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How Does Gene Therapy Work?

Gene therapy is a cancer treatment that is still in the early stages of research.

Genes are coded messages that tell cells how to make proteins. Proteins are the molecules that control the way cells behave. Our genes decide what we look like and how our body works.We have many thousands of separate genes.

Genes are made ofDNAand they are in the nucleus of the cell. The nucleus is the cell's control centre.Genes are grouped together to make chromosomes. We inherit half our chromosomes from our mother and half from our father.

Cancer cells are different from normal cells. They have changes (called faults or mutations) in several of their genes which make them divide too often and form a tumour. The genes that are damaged mightbe:

Many gene changes thatmake a cell become cancerous are caused by environmental or lifestyle factors. A small numberof people haveinherited faulty genes that increase their risk of particular types of cancer.

Gene therapy is a type of treatment which uses genes to treat illnesses. Researchers have been developing differenttypes of gene therapyto treat cancer.

The ideas for these new treatments have come about because we are beginning to understand how cancer cells are different from normal cells. It is stillearly days for this type of treatment. Some of these treatments are being looked at in clinical trials. Otherscan now be used for some people with types of cancer such as melanoma skin cancer.

Getting genes into cancer cells is one of the most difficult aspects of gene therapy. Researchers are working on finding new and better ways of doing this. The gene is usually taken into the cancer cell by a carrier called a vector.

The most common types of carrier used in gene therapy are viruses because they can enter cells and deliver genetic material. The viruses have been changed so that they cannot cause serious disease but they may still cause mild, flu-like symptoms.

Some viruses have been changed in the laboratory so that they target cancer cells and not healthy cells. So they only carry the gene into cancer cells.

Researchers are testing other types of carrier such as inactivated bacteria.

Researchers are looking at different ways of using gene therapy:

Some types of gene therapy aim to boost the body's natural ability to attack cancer cells. Ourimmune systemhas cells that recognise and kill harmful things that can cause disease, such as cancer cells.

There are many different types of immune cell. Some of them produce proteins that encourage other immune cells to destroy cancer cells. Some types of therapy add genes to a patient's immune cells. Thismakes them better at finding or destroying particular types of cancer.

There are a few trials using this type of gene therapy in the UK.

Some gene therapies put genes into cancer cells to make the cells more sensitive to particular treatments. The aim is to make treatments,such as chemotherapy or radiotherapy, work better.

Some types of gene therapy deliver genes into the cancer cells that allow the cells to change drugs from an inactive form to an active form. The inactive form of the drug is called a pro drug.

First of all you have treatment with thecarrier containing the gene, then you havethe pro drug.The pro drug circulates in the body and doesn't harm normal cells. But when it reaches the cancer cells, it is activated by the gene and the drug kills the cancer cells.

Some gene therapies block processes that cancer cells use to survive. For example, most cells in the body are programmed to die if their DNA is damaged beyond repair. This is called programmed cell death or apoptosis. Cancer cells block this process so they don't die even when they are supposed to.

Some gene therapy strategies aim to reverse this blockage. Researchers are looking at whetherthese new types of treatment will make the cancer cells die.

Some viruses infect and kill cells. Researchers are working on ways to change these viruses so they only target and kill cancer cells, leaving healthy cells alone.

This sort of treatment uses the viruses to kill cancer cells directly rather than to deliver genes. So it is not cancer gene therapy in the true sense of the word. But doctors sometimes refer to it as gene therapy.

An example is a drug called T-VEC (talimogene laherparepvec), also known as Imlygic. It uses a strain of the cold sore virus (herpes simplex virus) that has been changed by altering the genes that tell the virus how to behave. It tells the virus to destroy the cancer cells and ignore the healthy cells.

T-VEC is now available as a treatment for melanoma skin cancer. It can be used to treat some people with melanomawhose cancer cannot be removed with surgery. It is also being looked at in trials for head and neck cancer. You have T-VEC as an injection directly into the melanoma or head and neck cancer.

Use the tabs along the top to look at recruiting, closed and results.

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Gene therapy | Cancer in general | Cancer Research UK

In this impressive, meticulously researched study of the exciting new developments in gene therapy, geneticist and journalist Lewis (Human Genetics) looks closely at the history of setbacks plaguing the treatment of rare genetic diseases as well as recent breakthroughs...Yet with each success, as Lewis recounts in this rigorous, energetic work, possibilities in treating HIV infection and dozens of other diseases might be around the next corner. Publisher's Weekly (starred review)

A fascinating account of groundbreaking science and the people who make it possible. Kirkus

Ricki Lewis gives us the inspiring story of gene therapy as told through Corey's eyes--literally. Her book delves into the challenges modern medicine faces--both in its bitter disappointments and great successes--but it goes much deeper than that. With empathy and grace, Lewis shows us the unimaginable strength of parents with sick children and the untiring devotion of the physicians who work to find the forever fix' to save them. But best of all Lewis gives us a story of profound hope. Molly Caldwell Crosby, author of The American Plague: The Untold Story of Yellow Fever, the Epidemic that Shaped Our History and Asleep: The Forgotten Epidemic that Remains One of Medicine's Greatest Mysteries

The Forever Fix is a wonderful story told by one of our most gifted science and medical writers. In the tradition of Siddhartha Mukherjee's The Emperor of All Maladies, Ricki Lewis explains complex biological processes in extremely understandable ways, ultimately providing crucial insights into the modeling of disease and illustrating how gene therapy can treat and even potentially cure the most challenging of our health conditions. Dennis A. Steindler, Ph.D., former Executive Director of the McKnight Brain Institute, University of Florida

Ricki Lewis has written a remarkable book that vividly captures the breathtaking highs and devastating lows of gene therapy over the past decade while giving ample voice to all sides -- the brave patient volunteers, their parents and physicians. The Forever Fix is required reading as we dare to dream of curing a host of genetic diseases. Kevin Davies, Founding editor of Nature Genetics; author of The $1,000 Genome and Cracking the Genome

In 'The Forever Fix,' Ms. Lewis chronicles gene therapy's climb toward the Peak of Inflated Expectations over the course of the 1990s. A geneticist and the author of a widely used textbook, she demonstrates a mastery of the history. The Wall Street Journal

An engaging and accessible look at gene therapy. Times Union

Medical writer Ricki Lewis interweaves science, the history of medical trial and error, and human stories from the death in 1999 of teenager Jesse Gelsinger, from a reaction to gene therapy intended to combat his liver disease, to radical successes in some children with adenosine deaminase deficiency. Nature

Lewis adeptly traverses the highs and lows of gene therapy and explores its past, present, and future through the tales of those who've tested its validity. The Scientist

More here:
The Forever Fix: Gene Therapy and the Boy Who Saved It ...

Gene therapy is a technology aimed at correcting or fixing a gene that may be defective. This exciting and potentially transformative area of research is focused on the development of potential treatments for monogenic diseases, or diseases that are caused by a defect in one gene.

The technology involves the introduction of genetic material (DNA or RNA) into the body, often through delivering a corrected copy of a gene to a patients cells to compensate for a defective one, using a viral vector.

The technology involves the introduction of genetic material (DNA or RNA) into the body, often through delivering a corrected copy of a gene to a patients cells to compensate for a defective one, using a viral vector.

Viral vectors can be developed using adeno-associated virus (AAV), a naturally occurring virus which has been adapted for gene therapy use. Its ability to deliver genetic material to a wide range of tissues makes AAV vectors useful for transferring therapeutic genes into target cells. Gene therapy research holds tremendous promise in leading to the possible development of highly-specialized, potentially one-time delivery treatments for patients suffering from rare, monogenic diseases.

Pfizer aims to build an industry-leading gene therapy platform with a strategy focused on establishing a transformational portfolio through in-house capabilities, and enhancing those capabilities through strategic collaborations, as well as potential licensing and M&A activities.

We're working to access the most effective vector designs available to build a robust clinical stage portfolio, and employing a scalable manufacturing approach, proprietary cell lines and sophisticated analytics to support clinical development.

In addition, we're collaborating with some of the foremost experts in this field, through collaborations with Spark Therapeutics, Inc., on a potentially transformative gene therapy treatment for hemophilia B, which received Breakthrough Therapy designation from the US Food and Drug Administration, and 4D Molecular Therapeutics to discover and develop targeted next-generation AAV vectors for cardiac disease.

Gene therapy holds the promise of bringing true disease modification for patients suffering from devastating diseases, a promise were working to seeing become a reality in the years to come.

Excerpt from:
Gene Therapy | Pfizer: One of the world's premier ...