Archive for the ‘Gene Therapy Research’ Category

ANCFuturePerfect-The Medical City Stem Cell Therapy

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MENAFN - AFP - 12/05/2013

(MENAFN - AFP) Separate studies of the human genome have found tantalising clues to the inherited causes of testicular cancer and non-inherited causes of congenital heart disease, journals reported on Sunday.University of Pennsylvania researchers looked at the DNA of more than 13,000 men, comparing the DNA code of those with testicular cancer -- the commonest form of cancer diagnosed among young men today -- against men who were otherwise healthy.They found four new variants that increase the risk of this disease, bringing the tally of known mutations to 17, according to research reported in Nature Genetics.Meanwhile, investigators at the Yale School of Medicine found a clutch of gene mutations, absent in parents but found in their offspring, which account for at least 10 percent of cases of severe congenital heart disease, a birth defect that afflicts nearly one percent of babies."Most interestingly, the set of genes mutated in congenital heart disease unexpectedly overlapped with genes and pathways mutated in autism," said Richard Lifton, a professor of genetics."These findings suggest there may be common pathways that underlie a wide range of common congenital diseases."The study appears in the journal Nature.Genomics is one of the fastest-moving areas of medical research.Identifying genetic signatures associated with disease opens up the prospect of DNA tests to identify people most at risk. They also throw open avenues of research to block or reverse the disease.

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Gene clues for testicular cancer, heart defect

Newswise PHILADELPHIAA new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today. The findings from this first-of-its-kind meta-analysis were reported online May 12 in Nature Genetics by researchers at the Perelman School of Medicine at the University of Pennsylvania.

The discovery of these genetic variationschromosomal typos, so to speakcould ultimately help researchers better understand which men are at high risk and allow for early detection or prevention of the disease.

As we continue to cast a wider net, we identify additional genetic risk factors, which point to new mechanisms for disease, said Katherine L. Nathanson, MD, associate professor in the division of Translational Medicine and Human Genetics within the department of Medicine. Certain chromosomal regions, what we call loci, are tied into testicular cancer susceptibility, and represent a promising path to stratifying patients into risk groupsfor a disease we know is highly heritable.

Tapping into three genome-wide association studies (GWAS), the researchers, including Peter A. Kanetsky, PhD, MPH, an associate professor in the department of Biostatistics and Epidemiology, analyzed 931 affected individuals and 1,975 controls and confirmed the results in an additional 3,211 men with cancer and 7,591 controls. The meta-analysis revealed that testicular germ cell tumor (TGCT) risk was significantly associated with markers at four loci4q22, 7q22, 16q22.3, and 17q22, none of which have been identified in other cancers. Additionally, these loci pose a higher risk than the vast majority of other loci identified for some common cancers, such as breast and prostate.

This brings the number of genomic regions associated with testicular cancer up to 17including eight new ones reported in another study in this issue of Nature Genetics.

Testicular cancer is relatively rare; however, incidence rates have doubled in the past 40 years. It is also highly heritable. If a man has a father or son with testicular cancer, he has a four-to six-fold higher risk of developing it compared to a man with no family history. That increases to an eight-to 10-fold higher risk if the man has a brother with testicular cancer.

Given this, researchers continue to investigate genetic variants and their association with cancer.

In 2009, Dr. Nathanson and colleagues uncovered variation around two genesKITLG and SPRY4found to be associated with an increased risk of testicular cancer. The two variants were the first striking genetic risk factors found for this disease at the time. Since then, several more variants have been discovered, but only through single GWAS studies.

This analysis is the first to bring several groups of data together to identify loci associated with disease, said Dr. Nathanson, and represent the power of combining multiple GWAS to better identify genetic risk factors that failed to reach genome-wide significance in single studies.

The team also explains how the variants associated with increased cancer risk are the same genes associated with chromosomal segregation. The variants are also found near genes important for germ cell development. These data strongly supports the notion that testicular cancer is a disorder of germ cell development and maturation.

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Researchers Identify Four New Genetic Risk Factors for Testicular Cancer

May 12, 2013 A new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today. The findings from this first-of-its-kind meta-analysis were reported online May 12 in Nature Genetics by researchers at the Perelman School of Medicine at the University of Pennsylvania.

The discovery of these genetic variations -- chromosomal "typos," so to speak -- could ultimately help researchers better understand which men are at high risk and allow for early detection or prevention of the disease.

"As we continue to cast a wider net, we identify additional genetic risk factors, which point to new mechanisms for disease," said Katherine L. Nathanson, MD, associate professor in the division of Translational Medicine and Human Genetics within the department of Medicine. "Certain chromosomal regions, what we call loci, are tied into testicular cancer susceptibility, and represent a promising path to stratifying patients into risk groups -- for a disease we know is highly heritable."

Tapping into three genome-wide association studies (GWAS), the researchers, including Peter A. Kanetsky, PhD, MPH, an associate professor in the department of Biostatistics and Epidemiology, analyzed 931 affected individuals and 1,975 controls and confirmed the results in an additional 3,211 men with cancer and 7,591 controls. The meta-analysis revealed that testicular germ cell tumor (TGCT) risk was significantly associated with markers at four loci -- 4q22, 7q22, 16q22.3, and 17q22, none of which have been identified in other cancers. Additionally, these loci pose a higher risk than the vast majority of other loci identified for some common cancers, such as breast and prostate.

This brings the number of genomic regions associated with testicular cancer up to 17 -- including eight new ones reported in another study in this issue of Nature Genetics.

Testicular cancer is relatively rare; however, incidence rates have doubled in the past 40 years. It is also highly heritable. If a man has a father or son with testicular cancer, he has a four-to six-fold higher risk of developing it compared to a man with no family history. That increases to an eight-to 10-fold higher risk if the man has a brother with testicular cancer.

Given this, researchers continue to investigate genetic variants and their association with cancer.

In 2009, Dr. Nathanson and colleagues uncovered variation around two genes -- KITLG and SPRY4 -- found to be associated with an increased risk of testicular cancer. The two variants were the first striking genetic risk factors found for this disease at the time. Since then, several more variants have been discovered, but only through single GWAS studies.

"This analysis is the first to bring several groups of data together to identify loci associated with disease," said Dr. Nathanson, "and represent the power of combining multiple GWAS to better identify genetic risk factors that failed to reach genome-wide significance in single studies."

The team also explains how the variants associated with increased cancer risk are the same genes associated with chromosomal segregation. The variants are also found near genes important for germ cell development. These data strongly supports the notion that testicular cancer is a disorder of germ cell development and maturation.

Continue reading here:
Four new genetic risk factors for testicular cancer identified

Public release date: 12-May-2013 [ | E-mail | Share ]

Contact: Steve Graff stephen.graff@uphs.upenn.edu 215-349-5653 University of Pennsylvania School of Medicine

PHILADELPHIAA new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today. The findings from this first-of-its-kind meta-analysis were reported online May 12 in Nature Genetics by researchers at the Perelman School of Medicine at the University of Pennsylvania.

The discovery of these genetic variationschromosomal "typos," so to speakcould ultimately help researchers better understand which men are at high risk and allow for early detection or prevention of the disease.

"As we continue to cast a wider net, we identify additional genetic risk factors, which point to new mechanisms for disease," said Katherine L. Nathanson, MD, associate professor in the division of Translational Medicine and Human Genetics within the department of Medicine. "Certain chromosomal regions, what we call loci, are tied into testicular cancer susceptibility, and represent a promising path to stratifying patients into risk groupsfor a disease we know is highly heritable."

Tapping into three genome-wide association studies (GWAS), the researchers, including Peter A. Kanetsky, PhD, MPH, an associate professor in the department of Biostatistics and Epidemiology, analyzed 931 affected individuals and 1,975 controls and confirmed the results in an additional 3,211 men with cancer and 7,591 controls. The meta-analysis revealed that testicular germ cell tumor (TGCT) risk was significantly associated with markers at four loci4q22, 7q22, 16q22.3, and 17q22, none of which have been identified in other cancers. Additionally, these loci pose a higher risk than the vast majority of other loci identified for some common cancers, such as breast and prostate.

This brings the number of genomic regions associated with testicular cancer up to 17including eight new ones reported in another study in this issue of Nature Genetics.

Testicular cancer is relatively rare; however, incidence rates have doubled in the past 40 years. It is also highly heritable. If a man has a father or son with testicular cancer, he has a four-to six-fold higher risk of developing it compared to a man with no family history. That increases to an eight-to 10-fold higher risk if the man has a brother with testicular cancer.

Given this, researchers continue to investigate genetic variants and their association with cancer.

In 2009, Dr. Nathanson and colleagues uncovered variation around two genesKITLG and SPRY4found to be associated with an increased risk of testicular cancer. The two variants were the first striking genetic risk factors found for this disease at the time. Since then, several more variants have been discovered, but only through single GWAS studies.

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Penn Medicine researchers identify 4 new genetic risk factors for testicular cancer

2011 Champions of Genetics
In May of 2011, the Canadian Gene Cure Foundation celebrated it #39;s first Champions of Genetics and announced it #39;s first three award recipients. This exciting ...

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Day 1 Ocean Grown Genetics Pheno hunt..
All 6 merlot og beans popd..5 herijuana og beans popd..5 alien abduction beans popd.. Their all n happy frogs soil under 1 t5 ..stay tuned for hopefully week...

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Genetics Study Shows Europe is One Big Family
A mitochondrial DNA study found if lineages are traced back just 1000 years, nearly all Europeans turn out to be related.

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alta genetics youtube)

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Let #39;s Play The Sims 3 - Perfect Genetics - Episode 5 - Rummaging
With the arrival of Addison, Heather takes some time off and attends to the needs of her daughter. Not convinced that she is going to have the proper genetic...

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Immunology Lecture 11 Part 7 Genetics of Immunoglobulin Diversity
Immunoglobulins are important part of immune systems. These molecules are instrumental for defending against viruses, bacteria, and helminths etc. These mole...

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Immunology Lecture 11 Part 7 Genetics of Immunoglobulin Diversity - Video

Genetics 002
Structure of DNA, Types of DNA grade X-IJSO.

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Starting rare Wonder genetics
Popping some of the rarest and best cannabis seeds.

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How-To: Genetics Worksheet
How-To: Genetics Worksheet.

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AAV-Mediated Inclusion Formation as a Novel Gene Therapy Strategy for ALS
Ole Isacson, Ph.D., McLean Hospital. Dr. Isacson is a CDMRP-funded investigator supported by the DoD Amyotrophic Lateral Sclerosis Research Program (ALSRP).

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NewsLife Interview: Dr. Theresa Deischer, Founder, SCPI- benefits and effects of stem cell therapy
NewsLife Interview: Dr. Theresa Deischer, Founder, Sound Choice Pharmaceutical Institute - benefits and effects of stem cell therapy - [May 7, 2013] For more...

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Milwaukee, WI (PRWEB) May 10, 2013

The American Society of Gene & Cell Therapy (ASGCT) is honored to recognize Dr. Sonia Skarlatos, PhD, and Dr. Catherine McKeon, PhD as the recipients of the Distinguished Service Award at the Societys 16th Annual Meeting. This award recognizes an ASGCT member or group that has consistently fostered and enhanced the field of genetic and cellular therapy. The award presentation will begin on Friday, May 17th, at 8:00am in Ballroom E-J at the Salt Palace Convention Center.

Dr. Skarlatos, the Deputy Director of the Division of Cardiovascular Sciences with National Heart, Lung, and Blood Institute is credited for her development in various educational programming designed to support gene and cell therapy investigators as well as ensuring certified good manufacturing practices (GMP) grade vectors are available to researchers. Dr. Skarlatos was also instrumental in the conception and implementation of gene therapy programming within the NHLBI.

Dr. McKeon serves as the Senior Advisor for Genetic Research at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Dr. McKeon organized one of the first Requests for Application of research centered on gene transfer and gene therapy. Her participation in gene therapy symposia during the 1990s would help to form ASGCT. Dr. McKeon has also been significantly involved in educational speaking events focused on assisting young investigators in obtaining funding to continue their research.

"Both Sonia Skarlatos and Catherine McKeon have played vital roles in catalyzing the difficult but eventually successful evolution of gene therapy from interesting new science with great potential to a remarkably successful field of clinical medicine. They have become the two most essential intermediaries in the scientific and translation conversation between the ASGCT and the NIH. With one foot at the NIH and another in the ASGCT, Drs. Skarlatos and McKeon have coalesced the programs in the two institutions and have worked enthusiastically and tirelessly to bring the dream of gene therapy to reality, said Dr. Theodore M. Friedmann, past President of ASGCT and professor at the University of San Diego School of Medicine.

The American Society of Gene & Cell Therapy (ASGCT) is a professional nonprofit medical and scientific organization dedicated to the understanding, development and application of genetic and cellular therapies and the promotion of professional and public education in the field. For more information on ASGCT, visit its website, http://www.asgct.org.

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Pioneering Researchers Recognized for Scientific Achievements in Gene and Cell Therapy

Javascript is currently disabled in your web browser. For full site functionality, it is necessary to enable Javascript. In order to enable it, please see these instructions. May 10, 2013 The shifting structure of US patents referring to and claiming nucleotide sequences. Credit: Nature Biotechnology 31, 404410 (2013) doi:10.1038/nbt.2568

(Phys.org) As the U.S. Supreme Court moves closer to a decision this summer in the landmark gene patent case against Myriad Genetics, a study, led by Colorado State University, is shedding light on what may be at stake.

Gregory Graff, associate professor of Agricultural and Resource Economics at CSU, and a team of researchers at University of Minnesota and Pennsylvania State University analyzed U.S. patents to find that the case may not have the dramatic impact that some in the biotechnology industry fear it will. However, they caution, the Supreme Court's decision may have unanticipated impacts on patents that claim sequences from species other than just humans.

Graff's paper ,"Not Quite a Myriad of Gene Patents: Assessing the potential impact of the U.S. Supreme Court on the changing landscape of U.S. patents that claim nucleic acids," will be published in Nature Biotechnology this month.

The plaintiffs in the Myriad Genetics case are seeking resolution as to whether of not an isolated DNA molecule with a natural genetic sequence from the human genome should be considered eligible to be patented. According to recent commentary, there is good reason to expect the Supreme Court may decide to ban gene patents.

As the case was winding its way up through the courts, Graff and his team of collaborators began a comprehensive, in-depth review of how many and what sorts of U.S. patents make the kind of claims to DNA that were being challenged in the Myriad Genetics case.

The study analyzes the different types of claims that constitute a "gene patent" and then determines the number and nature of U.S. patents that could be invalidated by a Supreme Court ban.

"Our intention was to give some sort of measure to the potential legal and commercial implications of what is squaring up to become a landmark patent case, one of the most significant Supreme Court cases in the biological sciences for decades," said Graff.

This is the first study of several to draw upon a new and massive worldwide compilation of patents related to genetics and genomics, put together by Graff and collaborators at the International Science and Technology Practice and Policy (InSTePP) Center at the University of Minnesota over the past three years with funding from the National Institutes of Health (NIH).

What distinguishes the study from previous research is the way in which patents were counted and "read" by computer algorithms. Graff worked with other collaborators at Pennsylvania State University to train computer programs to pick out just those patents with precisely the same kind of legal language being challenged in the case. The research also goes beyond just considering human genes to analyze genes patented from all types of organisms, leading the study to raise questions about the full implications of the case.

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Study assesses impact of pending landmark US Supreme Court case on gene patents

By Barbara Bronson Gray HealthDay Reporter

THURSDAY, May 9 (HealthDay News) -- In the war against cancer, it looks like matchmaking -- between genes and drugs -- could be an important tool, according to new research into the genetic underpinnings of two rare forms of leukemia.

By matching a patient's genetic mutation responsible for a rare, rapidly progressing form of leukemia with a drug that specifically targets the problem the mutation creates, researchers report that one patient is experiencing fast, marked improvement.

The new findings shed light on how many forms of cancer may be tackled in the near future. Scientists are discovering how to differentiate between mutations that are driving the proliferation of cancer cells and those that are merely passengers in the process.

"If your car breaks down, you have to open up the hood to see what part has broken," said study author Jeffrey Tyner, an assistant professor at the Knight Cancer Institute at Oregon Health & Science University. "Here we have to open up the tumor cells to see what part is broken to understand what to do."

After first identifying the genetic drivers of a specific type of cancer, scientists then match those mutant genes to drugs that will specifically target them.

According to Julia Maxson, study first author and a postdoctoral fellow at the Knight Cancer Institute, "The move in the field is to take the individual broken genes and say which of these really promote cell growth. Then, you can find the right drugs."

The research, published May 9 in the New England Journal of Medicine, identified "driver" gene mutations related to two rare forms of blood cancers: chronic neutrophilic leukemia (CNL) and chronic myeloid leukemia (CML). The scientists identified particular mutations in the gene responsible for what is called "colony-stimulating factor 3," which signals kinases, a type of cell enzyme.

A patient with CNL who carries that gene mutation was given ruxolitinib, a drug that specifically inhibits that mutation (and is known as a kinase inhibitor). Ruxolitinib is already on the market, used to treat a different blood cancer, called myelofibrosis. But up until now, although it has been widely available, the drug hasn't been tried with CNL, Tyner said.

Because CNL is rare, most patients with the disease have the same mutant gene, which somewhat simplifies the process, Tyner explained. Other more common cancers will be more complicated to tackle because they are more genetically diverse, he pointed out.

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Gene Discovery May Offer Breakthrough for Rare Leukemia

But scientists now hope that identifying the genetic cause it will help them develop drugs that can block activity in the mutant gene, thus treating SWS and port wine stains far more effectively than at present.

Researchers at the Kennedy Krieger Institute in Baltimore uncovered the mutation by sequencing the genomes of affected and unaffected tissue and blood samples from three people with SWS.

They were able to identify one mutation shared by all three affected samples, in gene GNAQ on chromosome 9q21.

Study author Dr Anne Comi, whose findings are published in the New England Journal of Medicine said: "This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks.

"Now that we know the underlying genetic mutation responsible for both conditions, we're hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time."

Co-author Dr Jonathan Pevsner said: "This study presents a turning point for research on Sturge-Weber syndrome and port-wine birthmarks.

"While we suspected that a somatic mutation was the cause for decades now, the technology to test the theory didn't exist.

"The advancements in whole genome sequencing and the development of next-generation sequencing tools finally allowed my lab to test and prove the hypothesis."

The team also discovered a link between the mutant gene and a type of melanoma that occurs in the eye, raising hopes that a new method of treating it could also be uncovered.

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Genetic mutation causing port wine stain birthmarks discovered

Dr. Christian de Duve, a Belgian biochemist whose discoveries about the internal workings of cells shed light on genetic disorders such as Tay-Sachs disease and earned him a Nobel Prize in 1974, died at his home in Nethen, Belgium, on May 4. He was 95.

The cause was euthanasia, legal in Belgium, and administered by two doctors at Dr. de Duves request, his son Thierry said.

He was suffering from a number of health problems, including cancer and arrhythmia, Dr. Gunter Blobel, a colleague of Dr. de Duves at the Rockefeller University in Manhattan, said, and decided to end his life after falling a few weeks ago. He wanted to make the decision while he was still able to do it and not be a burden.

Dr. de Duve spent the last month writing letters to friends and colleagues telling them of his decision, and he put off his death until Thierry, who lives in Los Angeles, could be with him, along with his three other children, he told the Belgian newspaper Le Soir in an interview published after his death.

Beginning in the late 1940s, Dr. de Duve used a centrifuge and other techniques to separate and examine the inner components of cells. He discovered the lysosome, a tiny sack filled with enzymes that functions like a garbage disposal, destroying bacteria or parts of the cell that are old or worn out.

His discoveries helped unravel the biology of Tay-Sachs disease and more than two dozen other genetic diseases in which a shortage of lysosomal enzymes causes waste to accumulate in cells, eventually destroying them. In Tay-Sachs, a buildup of fatty substances in the brain and other tissues leads to blindness, paralysis, mental retardation and death.

After learning he had been awarded a Nobel, Dr. de Duve said that although his discoveries brought great intellectual satisfaction, his goal was to use them to conquer disease. Its now time to give mankind some practical benefit, he said.

He shared the 1974 Nobel Prize in Physiology or Medicine with Dr. Albert Claude, who first used centrifugal techniques to glance inside cells, and Dr. George E. Palade, who pioneered using the electron microscope to better understand cell structures. Claude died in 1983; Palade died in 2008.

Before the scientists embarked on their research, the cell was perceived as a workbasket containing indeterminate parts. The scientists, working separately, transformed that view with discoveries of important cell components.

Claude discovered mitochondria, which store energy, and Palade discovered ribosomes, the protein factories within cells. The Karolinska Institute, in awarding the Nobel, credited the three scientists with giving birth to the field of modern cell biology.

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Genetic research earned biologist Christian de Duve a Nobel Prize

By Duke Medicine News and Communications

DURHAM, N.C. A non-inherited genetic mutation that arises during fetal development has been shown to be the cause of port-wine stains, one of the most common birth defects, as well as a related, but rare disorder called Sturge-Weber Syndrome (SWS). In a study published May 8, 2013, in the New England Journal of Medicine, Duke Medicine scientists, in collaboration with researchers at Kennedy Krieger Institute, Johns Hopkins School of Medicine, and the Medical College of Wisconsin, have identified a variant of the gene GNAQ as the mutation that causes the defects. Sturge-Weber Syndrome occurs in approximately 1 in 20,000-50,000 live births, and is characterized by seizures, developmental delays and glaucoma, among other health problems. Researchers believe that the earlier the mutation in GNAQ happens during fetal development, the more likely it will lead to the more severe SWS outcome. The findings confirms a hypothesis posited by German dermatologist Rudolf Happle in 1987, who observed that the conditions did not appear to be inherited, suggesting they resulted from a somatic mutation a mutation that happens during development. What was really exciting was that Happle was right, said co-senior author Douglas Marchuk, Ph.D., professor and vice chair of the Department of Molecular Genetics and Microbiology at Duke. If he was right, people with Sturge-Weber and people with port-wine stains would have a mutation in the same gene, because theyre really the same thing, with the difference being when the mutation happens during development. Sure enough, we found the same mutation in both affected tissues, and not only was it the same gene, it was exactly the same mutation. The researchers performed whole genome sequencing on both affected and non-affected tissue samples from individuals with SWS and port-wine stains, and from normal subjects. Advanced sequencing technology and bioinformatics were critical to identifying the gene, the mutation, and the protein involved in the disease process, which is called G-alpha(q) (Gq). The Gq protein is a highly studied compound associated with G-protein-coupled receptors, the family of signaling receptors involved in a wide variety of physiological processes. The receptors are the subject of research that led to Dukes Robert Lefkowitz winning the 2012 Nobel Prize in Chemistry. Marchuk said the association may bode well for development of new therapies for SWS and port-wine stains. Gq is an important protein in a lot of processes, so people are already studying drugs that might inhibit the receptor, he said. Although the research team has not yet isolated which specific cell type is involved, they suspect the mutation occurs in endothelial cells in the blood vessels in the region of the eye and nearby brain. Now that the gene and the mutation have been identified, the next step will be to develop an animal model to characterize the tissue and cell types. Marchuk and his colleagues worked closely with the patient advocacy group Sturge-Weber Foundation. Karen Bell, Sturge-Weber Foundation president and CEO, said identifying the gene and mutation is a major milestone toward eradicating the condition. I think the first emotional wave is to just be dumbstruck and then the wow moment will come and theyll be giddy, she said. Then I hope individuals affected by Sturge-Weber will be even more united to drive home therapies that can help their loved ones. Its an opportunity to educate the public and the members, and to have a rallying point for more significant change, personally and medically. The study was funded by Hunters Dream for a Cure Foundation and the Brain Vascular Malformation Consortium (U54NS065705). The Brain Vascular Malformation Consortium is part of the National Institutes of Health Rare Disease Clinical Research Network, supported through the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Science and the National Institute of Neurological Disorders and Stroke. In addition to Marchuk, study authors at Duke include Hao Tang and Carol Gallione; along with Jonathan Pevsner, Anne Comi, Matthew D. Shirley, Joseph D. Baugher and Laurence Frelin of Kennedy Krieger Institute; Bernard Cohen of the Johns Hopkins; and Paula E. North of the Medical College of Wisconsin. # # #

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Genetic Mutation During Development Causes Port Wine Stains and Sturge-Weber Syndrome

Public release date: 10-May-2013 [ | E-mail | Share ]

Contact: Shaun Mason smason@mednet.ucla.edu 310-206-2805 University of California - Los Angeles

Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem (iPS) cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia (A-T).

Their discovery shows the positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPS cells are made from patients' skin cells, rather than from embryos, and they can become any type of cells, including brain cells, in the laboratory. The study appears online ahead of print in the journal Nature Communications.

People with A-T begin life with neurological deficits that become devastating through progressive loss of function in a part of the brain called the cerebellum, which leads to severe difficulty with movement and coordination. A-T patients also suffer frequent infections due to their weakened immune systems and have an increased risk for cancer. The disease is caused by lost function in a gene, ATM, that normally repairs damaged DNA in the cells and preserves normal function.

Developing a human neural cell model to understand A-T's neurodegenerative process and create a platform for testing new treatments was critical because the disease presents differently in humans and laboratory animals. Scientists commonly use mouse models to study A-T, but mice with the disease do not experience the more debilitating effects that humans do. In mice with A-T, the cerebellum appears normal and they do not exhibit the obvious degeneration seen in the human brain.

Lee and colleagues used iPS cellderived neural cells developed from skin cells of A-T patients with a specific type of genetic mutation to create a disease-in-a-dish model. In the laboratory, researchers were able to model the characteristics of A-T, such as the cell's lack of ATM protein and its inability to repair DNA damage. The model also allowed the researchers to identify potential new therapeutic drugs, called small molecule read-through (SMRT) compounds, that increase ATM protein activity and improve the model cells' ability to repair damaged DNA.

"A-T patients with no ATM activity have severe disease but patients with some ATM activity do much better," Lee said. "This makes our discovery promising, because even a small increase in the ATM activity induced by the SMRT drug can potentially translate to positive effects for patients, slowing disease progression and hopefully improving their quality of life."

These studies suggest that SMRT compounds may have positive effects on all other cell types in the body, potentially improving A-T patients' immune function and decreasing their susceptibility to cancer.

Additionally, the patient-specific iPS cellderived neural cells in this study combined with the SMRT compounds can be an invaluable tool for understanding the development and progression of A-T. This iPS cellneural cell A-T disease model also can be a platform to identify more potent SMRT drugs. The SMRT drugs identified using this model can potentially be applied to most other genetic diseases with the same type of mutations.

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UCLA stem cell researchers move toward treatment for rare genetic nerve disease

Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 3
This is a POSSIBLE LP that I am starting - I have recorded 3 episodes and will look at the responses (comments and likes) to determine if I will add this cha...

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Immunology Lecture 11 Part 6 Genetics of Immunoglobulin Diversity
Immunoglobulins are important part of immune systems. These molecules are instrumental for defending against viruses, bacteria, and helminths etc. These mole...

By: Mobeen Syed

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Immunology Lecture 11 Part 6 Genetics of Immunoglobulin Diversity - Video