Category Archives: Gene therapy

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.

View original post here:
Gene therapy might be a cure for "bubble boy disease ...

The biotech industry has had a good start in 2019. The Zacks Biomed and Genetics industry has gained 16.1%, outperforming the broader S&P 500, which is up 15.3%, so far in 2019. The rise in merger and acquisitions (M&A) activity this year is one of the major driving forces behind this rally. The biotech industry is ranked 86 among the 256 Zacks industries.

Several large-cap pharma companies are facing patent expirations of their major drugs and pricing challenges in the U.S. market. This has led to consolidation through M&A in the pharma space. In a landmark deal, Bristol-Myers has offered to acquire big biotech, Celgene, for $74 billion. The large-cap companies are looking to acquire or partner with smaller biotech companies to boost their pipeline with newer technologies. Acquisitions, which are done generally by giving a premium on current price, and partnerships, which provide funds to smaller companies to support continued development of pipeline candidates, boost the stock price of the target companies.

A few of the M&A deals so far in 2019 involve companies with promising gene therapy candidates. Gene therapy, a new wave of innovation in pharma space, enables to mitigate the adverse effects of a malfunctioning disease-causing gene. These therapies have a different approach from traditional drug therapies as the underlying cause can be treated instead of the symptoms. These therapies generally target rare indications including hemophilia, Duchenne muscular dystrophy (DMD) and Parkinson's disease among others, which will likely lead to higher price realization. The gene therapy segment is expected to attract a lot more attention from pharma players going forward. Better efficacy achieved by gene therapies in clinical studies and likely rise in involvement of pharma companies may lead to higher M&A activity in the gene therapy segment.

In 2018, Novartis acquired AveXis for its gene therapy candidates and Celgene acquired Juno Therapeutics to add CAR T-cell therapy for cancer. In 2019, Roche and Biogen offered to buy Spark Therapeutics ONCE and Nightstar Therapeutics NITE, respectively. Both Spark and Nightstar are developing gene therapies targeting rare indications. Pfizer collaborated with innovative gene therapy developer Vivet Therapeutics, a privately-held company. There are several companies in the biotech industry, which are developing gene therapy candidates or shifting their focus to developing similar therapies. Looking at this trend, we expect some more deals targeting gene therapy makers.

We present four companies with promising gene therapy candidates in their pipelines. These companies may become acquisition targets going forward.

uniQure N.V. QURE)

The company is a promising player in the space. It is engaged in creating a pipeline of innovative gene therapies that have been developed both internally and through its collaboration, focused on cardiovascular diseases, with Bristol Myers-Squibb.

The companys lead candidate AMT-061, an experimental AAV5-based gene therapy incorporating the FIX-Padua variant, is being evaluated in the phase III HOPE-B pivotal study for the treatment of patients with severe and moderately severe hemophilia B. In January 2019, the company received clearance from the FDA to initiate clinical study for AMT-130 for the treatment of Huntingtons disease.

Story continues

uniQures stock has moved up 115.4% so far this year against the industrys decline. The company currently carries a Zacks Rank #3 (Hold). You can see the complete list of todays Zacks #1 Rank (Strong Buy) stocks here.

Audentes Therapeutics BOLD)

It is another biotechnology company with a pipeline of innovative gene therapy products for patients living with rare diseases. The company is currently conducting phase I/II studies for its lead product candidates, AT132,for the treatment of X-linked myotubular myopathy (XLMTM), and AT342 for the treatment of Crigler-Najjar syndrome. The company currently has two additional product candidates in its pipeline, AT845 for the treatment of Pompe disease and AT307 for the treatment of the CASQ2 subtype of catecholaminergic polymorphic ventricular tachycardia (CASQ2-CPVT), which are likely to enter clinical development.

Audentes currently carries a Zacks Rank #3. Shares have gained 82.9% year to date.

REGENXBIO Inc. RGNX)

The company is a clinical-stage biotechnology company that focuses on the development, commercialization and licensing of recombinant adeno-associated virus gene therapy. The companys most advanced candidate, RGX-314, is being evaluated in a phase I/IIa for treating wet age-related macular degeneration (AMD). The company is planning to initiate a mid-stage study on the candidate for treating an additional chronic retinal condition in the second half of 2019. Apart from RGX-314, the company is also developing three other gene therapy candidates for treating certain rare neurological symptoms.

REGENXBIO currently carries a Zacks Rank #3. So far this year, shares have gained 41.3%.

Solid Biosciences Inc. SLDB)

The companys lead product candidate is SGT-001, a microdystrophin gene therapy that is in phase I/II clinical studies, intended to restore functional dystrophin protein expression in DMD patients.

Solid Biosciences currently carries a Zacks Rank #3.

Solid Biosciences Inc. Price

Solid Biosciences Inc. Price | Solid Biosciences Inc. Quote

Some other companies with gene therapy candidates in their pipeline include Sarepta Therapeutics SRPT and Ophthotech OPHT, which are developing treatments for DMD and retinal disorder, respectively.

Whats Ahead?

Investors should keep an eye on this space as potential approvals and data read-outs from late-stage studies on several candidates are likely to drive the related stocks.

Is Your Investment Advisor Fumbling Your Financial Future?

See how you can more effectively safeguard your retirement with a new Special Report, 4 Warning Signs Your Investment Advisor Might Be Sabotaging Your Financial Future.

Click to get it free >>

Want the latest recommendations from Zacks Investment Research? Today, you can download 7 Best Stocks for the Next 30 Days. Click to get this free reportOphthotech Corporation (OPHT) : Free Stock Analysis ReportuniQure N.V. (QURE) : Free Stock Analysis ReportSpark Therapeutics, Inc. (ONCE) : Free Stock Analysis ReportREGENXBIO Inc. (RGNX) : Free Stock Analysis ReportSarepta Therapeutics, Inc. (SRPT) : Free Stock Analysis ReportNightstar Therapeutics PLC Sponsored ADR (NITE) : Free Stock Analysis ReportAudentes Therapeutics, Inc. (BOLD) : Free Stock Analysis ReportSolid Biosciences Inc. (SLDB) : Free Stock Analysis ReportTo read this article on Zacks.com click here.Zacks Investment Research

Excerpt from:
4 Gene Therapy Players Likely to Become Buyout Targets in 2019

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

Heres how the NAV Technology Platform works:

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

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

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

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

Learn more about gene therapy below:

Original post:
Gene Therapy - REGENXBIO

Virtually all cells in the human body contain genes, making them potential targets for gene therapy. However, these cells can be divided into two major categories: somatic cells (most cells of the body) or cells of the germline (eggs or sperm). In theory it is possible to transform either somatic cells or germ cells.

Gene therapy using germ line cells results in permanent changes that are passed down to subsequent generations. If done early in embryologic development, such as during preimplantation diagnosis and in vitro fertilization, the gene transfer could also occur in all cells of the developing embryo. The appeal of germ line gene therapy is its potential for offering a permanent therapeutic effect for all who inherit the target gene. Successful germ line therapies introduce the possibility of eliminating some diseases from a particular family, and ultimately from the population, forever. However, this also raises controversy. Some people view this type of therapy as unnatural, and liken it to "playing God." Others have concerns about the technical aspects. They worry that the genetic change propagated by germ line gene therapy may actually be deleterious and harmful, with the potential for unforeseen negative effects on future generations.

Somatic cells are nonreproductive. Somatic cell therapy is viewed as a more conservative, safer approach because it affects only the targeted cells in the patient, and is not passed on to future generations. In other words, the therapeutic effect ends with the individual who receives the therapy. However, this type of therapy presents unique problems of its own. Often the effects of somatic cell therapy are short-lived. Because the cells of most tissues ultimately die and are replaced by new cells, repeated treatments over the course of the individual's life span are required to maintain the therapeutic effect. Transporting the gene to the target cells or tissue is also problematic. Regardless of these difficulties, however, somatic cell gene therapy is appropriate and acceptable for many disorders, including cystic fibrosis, muscular dystrophy, cancer, and certain infectious diseases. Clinicians can even perform this therapy in utero, potentially correcting or treating a life-threatening disorder that may significantly impair a baby's health or development if not treated before birth.

In summary, the distinction is that the results of any somatic gene therapy are restricted to the actual patient and are not passed on to his or her children. All gene therapy to date on humans has been directed at somatic cells, whereas germline engineering in humans remains controversial and prohibited in for instance the European Union.

Somatic gene therapy can be broadly split into two categories:

Originally posted here:
Gene Therapy Technology Explanied

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

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

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

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

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

What Counts as a Rare Disease?

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

Show Answer

Which Diseases Have Gene Therapies?

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

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

Show Answer

Why Do We Use Viral Vectors?

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

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

Show Answer

The rest is here:
Gene Therapy Basics | Education | ASGCT American Society ...

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.

***

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.

Link:
Gene Therapy - Sickle Cell Anemia News

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.

Related Journals of Genetic Mutations

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

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

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

Related Journals of Sickel Cell Anemia

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

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

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

Related Journals of Muscular Dystrophy

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

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

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

Related Journals of Cystic Fibrosis

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

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

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

Related Journals of Auto immune Disease

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

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

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

Related Journals of Mitochiondrial Disease

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

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

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

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.

Related Journals of Reye Syndromes

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

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

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

Related Journals of Patau Syndromes

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

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

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

Related Journals of Fragile Syndrome

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

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

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

Related Journals of Angelman Syndrome

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.

Related Journals of Tay-Sachs

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

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

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

Related Journals of Prenatal Genetic Testing

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

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

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

Related Journals of Genetic Disorders

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

Excerpt from:
Journal of Genetic Syndromes & Gene 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.

***

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.

Read the rest here:
Gene Therapy in Muscular Dystrophy

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.

Follow this link:
Gene therapy | Cancer in general | Cancer Research UK

Could the condition be corrected by adding one or a few functional genes?For you to even consider gene therapy, the answer must be "yes." For instance, genetic disorders caused by mutations in single genes tend to be good candidates for gene therapy, while diseases involving many genes and environmental factors tend to be poor candidates.

Do you know which genes are involved?If you plan to treat a genetic flaw, you need to know which gene(s) to pursue. You must also have a DNA copy of the gene available in your laboratory.

Do you understand the biology of the disorder?To design the best possible approach, you need to learn all you can about how the gene factors into the disorder. For example, which tissues the disorder affects, what role the protein encoded by the gene plays within the cells of that tissue, and exactly how mutations in the gene affect the protein's function.

Will adding a normal copy of the gene fix the problem in the affected tissue? Or could getting rid of the defective gene fix it?Sometimes when a gene is defective, no functional protein is being made from it. In cases like these, adding a functional copy of the gene could correct the problem. But sometimes a defective gene codes for a protein that starts doing something it shouldn't or prevents another protein from doing its job. In order to correct the problem, you would need to get rid of the misbehaving protein.

Can you deliver the gene to cells of the affected tissue?The answer will come from several pieces of information, including the tissue's accessibility and molecular signatures.

The rest is here:
What is Gene Therapy? - Learn.Genetics