Gene Therapy Research

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Sequencing studies help pinpoint gene in Prader-Willi syndrome

September 30th, 2013

Public release date: 29-Sep-2013 [ | E-mail | Share ]

Contact: Glenna Picton picton@bcm.edu 713-798-7973 Baylor College of Medicine

HOUSTON -- (Sep. 29, 2013) As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis.

The parents of this first patient sought genetic testing for Prader-Willi syndrome when he was only a year old, but the test, which was still in its infancy, came back negative. For the next 12 years, his parents were left in limbo. He had many features of the disease including lack of muscle tone, feeding difficulties and failure to thrive early on. Autism spectrum disorder and mild intellectual disability became evident as he grew older.

Dr. C. Thomas Caskey, then with UTHealth and now with Baylor College of Medicine, referred the patient to Dr. Christian Schaaf, an assistant professor of molecular and human genetics at Baylor College of Medicine and a faculty member at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, for an evaluation. Schaaf agreed that the boy had many of the outward signs consistent with Prader-Willi, but others were lacking, such as the morbid obesity, which is typically caused by a very aggressive appetite.

Dr. Manuel L. Gonzalez-Garay (co-first and co-corresponding author), assistant professor and bioinformatics expert at the University of Texas Health Science Center at Houston's Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases, identified a single change (called a point mutation) in the gene MAGEL2 using highly accurate whole genome sequencing information from Complete Genomics, Inc., of Mountain View California. This gene is located in the area of chromosome 15, which researchers knew was involved in Prader-Willi syndrome. The single base deletion found in this GC-rich and difficult to sequence gene is a frame-shift mutation that disrupts activity of the protein product of MAGEL2.

Prader-Willi syndrome is an imprinted disease, which means only one of the two copies of the gene inherited from your parents is working. The other is "silenced," usually during the formation of eggs or sperm. In this case, neither parent had a mutation, meaning that the mutation occurred first in this child. However, it still mattered whether the mutation came from the mother or the father.

The team from UTHealth and Complete Genomics then performed an involved analysis that determined that the mutated gene was on the paternal chromosome 15.

"Because the mom's copy of the gene is silenced and the dad's copy is deficient, there is no functional copy of the gene in his body," said Schaaf. "It was a nice collaboration among Baylor, UTHealth and Complete Genomics. But it was only one patient. When you identify a new gene and want to prove that it is the real cause of disease, you really need to identify several patients with mutations in the same gene, and show that they also have similar clinical manifestations. You also ought to consider the severity of the mutation and how rare the mutation is."

To start, they began to look for other patients. They asked the Baylor Whole Genome Sequencing Laboratory to find out if there had been similar mutations found in patients who had their exomes or protein-coding portions of the genome sequenced. They searched through the records of 1,200 and found three more patients with mutations in the same gene. One of the three had classic Prader-Willi syndrome, the other two were classified as Prader-Willi like. All three children had the standard molecular testing for Prader-Willi when they were infants, with negative results.

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Sequencing studies help pinpoint gene in Prader-Willi syndrome

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Alzheimer’s: A Discovery of Two New Gene Mutations

September 30th, 2013

A research team at the Massachusetts General Hospital have discovered two gene mutations that could cause late onset Alzheimers disease in humans. The good news, according to the researchers, this can help in the prevention and treatment of the disease.

A gene, called ADAM10, is where the new mutations were found. The mutations are similar to the same mutations found in Alzheimers, which is usually founded in people over the age of 60. This is the second gene confirmed to cause late onset Alzheimers as well as the fifth to be linked overall to the disease according to the Massachusetts General Hospital researchers.

The two mutations the researchers found in the ADAM10 gene, showed an increase in producing the beta-amyloid protein. The beta-amyloid protein is founded in people who suffer from Alzheimers. The mutations also stop the creation of new nerve related cells in the hippocampus. The hippocampus is critical as it main purpose is to help with the brains function to learn and retain memory.

This is the first report to document, in animal models, new [disease-causing] gene mutations for Alzheimers since the reports of the original four genes in the 1990s. , study senior author Rudolph Tanzi, director of the genetics and aging unit the Mass General Institute for Neurodegenerative Disease, said at the hospital news release.

What we found regarding the many effects of these two rare mutations in ADAM10 strongly suggests that diminished activity of this enzyme can cause [Alzheimer's disease], and these findings support ADAM10 as a promising therapeutic target for both treatment and prevention. he said.

Similar findings from animal models does not mean it will be founded in humans, but it is a potential help in the fight against Alzheimers. Video via NDN

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Alzheimer’s: A Discovery of Two New Gene Mutations

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Alzheimer's: Two new gene mutations linked to disease

September 30th, 2013

Gene is only second linked to late-onset Alzheimer's, fifth overall linked to the disease.

Published: Sept. 28, 2013 at 8:20 PM

Researchers at Massachusetts General Hospital identified two gene mutations that can increase a person's chance of developing late-onset Alzheimer's disease.

The research, published in the October issue of Neuron magazine, found that the two rare mutations are found in the ADAM10 gene, the second gene found to play a role in Alzheimer's developed after the age of 60. It's the fifth gene overall linked to the disease.

"This is the first report to document, in animal models, new [disease-causing] gene mutations for Alzheimer's since the reports of the original four genes in the 1990s," study senior author Rudolph Tanzi, director of the genetics and aging unit at the MassGeneral Institute for Neurodegenerative Disease, said in a hospital news release.

"What we found regarding the many effects of these two rare mutations in ADAM10 strongly suggests that diminished activity of this enzyme can cause [Alzheimer's disease], and these findings support ADAM10 as a promising therapeutic target for both treatment and prevention," Tanzi said.

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Alzheimer's: Two new gene mutations linked to disease

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Alzheimer's: Two additional gene mutations linked to disease

September 30th, 2013

Gene is only second linked to late-onset Alzheimer's, fifth overall linked to the disease.

Published: Sept. 28, 2013 at 8:20 PM

Researchers at Massachusetts General Hospital identified two gene mutations that can increase a person's chance of developing late-onset Alzheimer's disease.

The research, published in the October issue of Neuron magazine, found that the two rare mutations are found in the ADAM10 gene, the second gene found to play a role in Alzheimer's developed after the age of 60. It's the fifth gene overall linked to the disease.

"This is the first report to document, in animal models, new [disease-causing] gene mutations for Alzheimer's since the reports of the original four genes in the 1990s," study senior author Rudolph Tanzi, director of the genetics and aging unit at the MassGeneral Institute for Neurodegenerative Disease, said in a hospital news release.

"What we found regarding the many effects of these two rare mutations in ADAM10 strongly suggests that diminished activity of this enzyme can cause [Alzheimer's disease], and these findings support ADAM10 as a promising therapeutic target for both treatment and prevention," Tanzi said.

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Alzheimer's: Two additional gene mutations linked to disease

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September 2013 Breaking News Genetic engineering – Video

September 30th, 2013

September 2013 Breaking News Genetic engineering
September 2013 Breaking News Genetic engineering.

By: utoob bornagain

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September 2013 Breaking News Genetic engineering - Video

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Steve Jobs' Final Vision Is Coming True Thanks (In Part) To Bill Gates And Google

September 30th, 2013

Asa Mathat | All Things D

Last week more than a dozen companies had IPOs and among them was an interesting bio-tech company called Foundation Medicine.

Foundation offers to the public the kind of in-detailed genetic cancer testing made famous by Steve Jobs. Jobs was the first well-known person to try this sort of thing.

For about $6,000, this test uncovers all the genetic mutations that lead to a persons tumor. It's helping to usher in a new era of "personalized medicine" where doctors choose cancer treatments based on genetic knowledge.

Jobs spent some $100,000 to have this kind of test done, according to Walter Isaacsons biography, and in the end, it obviously didn't save him.

But he believed deeply in the value of the attempt, saying Im either going to be one of the first to be able to outrun a cancer like this, or Im going to be one of the last to die from it, reports Antonio Regalado, MIT Technology Review.

September 30th, 2013

Human gene therapy, types of gene therapy part 4
For more information, log on to- http://shomusbiology.weebly.com/ Download the study materials here- http://shomusbiology.weebly.com/bio-materials.html.

By: Suman Bhattacharjee

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Human gene therapy, types of gene therapy part 4 - Video

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When Will Gene Therapy Come to the U.S.?

September 30th, 2013

Several gene therapies are or will soon be in late-stage human trials. One of them could be the first to get FDA approval for sale in the U.S.

Though many gene therapies have been tested in patients around the world in hopes of curing hereditary diseases, few governments have approved their sale, and none has been approved in the United States. That could change in coming years as several therapies enter advanced trials.

A big step forward already came in November 2012, when the European Medicines Agency gave the Dutch biotech startup UniQure permission to sell its treatment. That approval came as a relief to many in the field, who had been waiting for a break in the clouds hanging over the technology since failed and fatal trials in the 1990s. You see a resurgence in terms of investors, and in truth, a number of problems have been solved, says Katherine High, a medical researcher at Childrens Hospital of Philadelphia, who is overseeing a late-stage clinical trial for a different gene therapy.

Still, experts say it is likely to be a few years before a treatment is approved in the U.S. With its European approval in hand, UniQure may have good chance of also getting the first U.S. approval, but the company says it has not yet submitted an application to the FDA.

Like most gene therapies, UniQures treatment uses a modified virus to deliver a working copy of a gene to patients who lack a healthy version. In this case, the gene is needed for the body to break down fats; without it, patients can develop painful and even fatal inflammation of the pancreas. UniQure uses a modified version of a virus that most of us already carry. The choice of virus used to deliver a gene therapy depends in part on where the treatment needs to go in the body and whether the viruses are intended to replicate themselves. Some viruses, for instance, are designed to spread throughout the body to kill cancer cells.

There are several groups that could be the first to develop a U.S.-approved gene therapy (see table). Highs team is one; they are enrolling patients in a late-stage trial of a treatment for a disorder that causes blindness at an early age. The patients in this trial have previously been given the gene therapy in one eye, and now the other will be tested.

In the experimental treatment, doctors inject a virus-based particle just behind a patients retina. The treatment improved some patients vision to the point that they were no longer legally blind. Some patients have been stable for nearly six years. The trial is scheduled to end in April 2015.

Another possibility comes from Massachusetts-based Bluebird Bio, which has published results from patients who have seemingly been cured of a genetic blood disease (see Gene Therapy Combats Hereditary Blood Disease). The company is about to start testing its approach in a hereditary neurological disorder that is often fatal in young boys.

In a different form, gene therapy could also become an option for cancer treatment. At a meeting this summer, Amgen announced that it had met its goals for an advanced test of a gene therapy for melanoma that has spread from the skin to other parts of the body. The Amgen treatment, which was engineered from a virus that normally causes cold sores, takes a two-pronged approach to fighting cancer. The virus selectively infects cancer cells, where it replicates until the cell bursts. While growing inside the cell, the virus also produces a protein that rouses the immune system. When the cell explodes, immune cells are attracted to the tumor site to fight the disease.

In a test in patients with late-stage melanoma, 26 percent of patients whose cancer had spread saw a partial or complete tumor response for at least six months. In 11 percent of patients, the cancer completely disappeared, which suggests that the therapy spreads throughout the body, targeting tumors that werent initially injected. Overall survival rates for cancer patients in the trials are expected to be reported in the first half of 2014.

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When Will Gene Therapy Come to the U.S.?

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Kilian Receives Stemlogix Stem Cell Therapy – Video

September 28th, 2013

Kilian Receives Stemlogix Stem Cell Therapy

By: Stemlogix, LLC

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Kilian Receives Stemlogix Stem Cell Therapy - Video

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Ben Moody of Evanescence talks HGH Stem Cell Therapy MetroMD Los Angeles – Video

September 28th, 2013

Ben Moody of Evanescence talks HGH Stem Cell Therapy MetroMD Los Angeles

By: CARLY SMITHSON

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Ben Moody of Evanescence talks HGH Stem Cell Therapy MetroMD Los Angeles - Video

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Folic acid deficiency has multigenerational effects

September 28th, 2013

CALGARY, ALBERTA--(Marketwired - Sep 27, 2013) - Researchers from the universities of Calgary and Cambridge, UK, have discovered that a mutation in a gene necessary for the metabolism of folic acid not only impacts immediate offspring but can also have detrimental health effects, such as spina bifida and heart abnormalities, on subsequent generations. The animal study, published this week in the journal Cell, also sheds light on the molecular mechanism of folic acid (also known as folate) during development.

About one in 1,200 children are born with spina bifida. The detrimental effects of folic acid deficiency during pregnancy on development are well known. As a result Canada, and many other countries, have implemented folate fortification programs which require folic acid to be added to cereal products. The aim has been to reduce the incidence of developmental problems, including spina bifida. However, until now, very little was known about how folic acid deficiency caused the diverse range of health problems in offspring.

"Fortification programs have reduced the risk of health effects but not eliminated them completely," says Dr. Jay Cross, with the faculties of medicine and veterinary medicine. "Based on our research, we now believe that it may take more than one generation to eliminate the health problems caused by folate deficiency. In addition, we need to be thinking not just about our own genes and how they impact our health and development, but also those of our descendents."

Cross, also a member of the Alberta Children's Hospital Research Institute, co-authored the study with Dr. Erica Watson from the University of Cambridge. Watson is a University of Calgary alumna and started the work during her PhD studies with Cross before moving to Cambridge.

Researchers from the university used mice for the study because their folic acid metabolism is very similar to humans. This enabled the researchers to explore how the molecular mechanism of folic acid deficiency impacted development, thereby causing developmental problems.

Dr. Roy Gravel, also a co-author of the study and member of the Alberta Childrens' Hospital Research Institute says this study provides a tremendous opportunity to look at the prevention of diseases like spina bifida. "The work began as a study of a gene called Mtrr in mice. The goal was to shed light on how a mutation in Mtrr would affect folate metabolism. The multigeneral effect we observed was completely unexpected," says Gravel.

The Mtrr gene encodes an enzyme that is key to the metabolism of folic acid and, when mutated, causes similar effects to dietary folic acid deficiency. The researchers found that when either the maternal grandmother or the maternal grandfather had this Mtrr mutation, their genetically normal grandchildren were at risk of a wide spectrum of developmental abnormalities, even if the mutated gene was not inherited through to the next generations. These developmental abnormalities were also seen in the fourth and fifth generations of mice.

Through a series of experiments, researchers discovered that the developmental abnormalities were not passed down genetically. Instead, the defects were the result of "epigenetic" changes, which had been inherited. Epigenetics is a process which turns genes on and off through chemical modifications to DNA without changing the genetic code itself. Epigenetic inheritance refers to the passing along of these epigenetic marks as cells divide during development. It had been previously thought that epigenetic modifications were, for the most part, 'wiped clean' after each generation.

The researchers hypothesize that, for a yet unknown reason, some of these abnormal epigenetic marks caused by the Mtrr mutation escape this normal erasure and are inherited by the next generation. If the abnormal epigenetic marks that regulate genes important for development are inherited, then these generations may develop abnormalities as a result of the wrong genes being turned on or off.

"There have been several recent studies implicating folate in different types of human diseases, not just developmental abnormalities, and so our work provides insights into potential biochemical mechanism but also adds a layer of complexity in thinking about transgenerational effects of folate," says Cross.

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Folic acid deficiency has multigenerational effects

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Prof. Chris Shaw at MND Scotland 2013 Open Day/AGM: "Update on the Genetics of MND" – Video

September 28th, 2013

Prof. Chris Shaw at MND Scotland 2013 Open Day/AGM: "Update on the Genetics of MND"
Our 2013 Open Day/AGM Keynote Speaker, Professor Chris Shaw, Professor of Neurology and Neurogenetics at the Institute of Psychiatry, King #39;s College London. ...

By: mndscot

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Prof. Chris Shaw at MND Scotland 2013 Open Day/AGM: "Update on the Genetics of MND" - Video

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Genetics plays Genesis: "Dancing with the Moonlit Knight". Coliseo. 21-09-13. – Video

September 28th, 2013

Genetics plays Genesis: "Dancing with the Moonlit Knight". Coliseo. 21-09-13.
Genetics Plays Genesis: 40° aniversario de "Selling England By The Pound". Canción: ""Dancing with the Moonlit Knight". Teatro Coliseo. 21-09-2013. Bs.As.- G...

By: EDYLAFOCA1953

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Genetics plays Genesis: "Dancing with the Moonlit Knight". Coliseo. 21-09-13. - Video

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Genetics Plays Genesis: "More Fool Me" Teatro Coliseo. Bs.As.- 21-09-2013. – Video

September 28th, 2013

Genetics Plays Genesis: "More Fool Me" Teatro Coliseo. Bs.As.- 21-09-2013.
Genetics Plays Genesis: 40° aniversario de "Selling England By The Pound". Canción: "More Fool Me". Teatro Coliseo. 21-09-2013. Bs.As.- GENETICS: Daniel Raws...

By: EDYLAFOCA1953

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Genetics Plays Genesis: "More Fool Me" Teatro Coliseo. Bs.As.- 21-09-2013. - Video

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