Archive for the ‘Gene Therapy Research’ Category

Council of Europe Journal (Week 14)
04/04/2013 - The Week 14 edition includes a look at corruption in Moldova and interviews with Anastasia Nani and Michael Janssen. Susanne Keitel talks about ...

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Council of Europe Journal (Week 14) - Video

The Therapy explained by Luigi Naldini
http://www.telethon.it/en - The gene therapy developed by researchers at the Telethon Institute of Milan consists in administering a correct version of the g...

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The Therapy explained by Luigi Naldini - Video

#39;Defanged #39; HIV Used To Deliver Gene Therapy
#39;Defanged #39; HIV Used To Deliver Gene Therapy Researchers are having success using a vector that is derived from HIV to deliver gene therapy to children suffer...

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'Defanged' HIV Used To Deliver Gene Therapy - Video

Breaking News Headlines: #39;Defanged #39; HIV Used To Deliver Gene Therapy
#39;Defanged #39; HIV Used To Deliver Gene Therapy Researchers are having success using a vector that is derived from HIV to deliver gene therapy to children suffer...

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Breaking News Headlines: 'Defanged' HIV Used To Deliver Gene Therapy - Video

Aram Boghosian for The Boston Globe Kirsti Pigney is participating in a trial for gene therapy to treat blindness. She cant tell whether the therapy is working, but said her vision hasnt worsened.

By Carolyn Y. Johnson / Globe Staff/ July 13, 2013

Years after it was hyped, vilified for the death of a teenager, and then mostly forgotten by the general public, gene therapy has rebounded, and hospitals, companies, and investors in the Boston area have jumped on the bandwagon.

Patients are enrolling in a growing number of clinical trials here, and in some cases showing dramatic improvement. The technique, in which doctors infect patient cells with viruses engineered to carry useful genes, has matured and evolved.

Once trumpeted as a possible panacea for diseases ranging from sickle cell anemia to cystic fibrosis, gene therapy faced serious questions after the high-profile death of a Pennsylvania teenager in a clinical trial in 1999. But some researchers continued to work to overcome the safety and technical hurdles. Full story for BostonGlobe.com subscribers.

Copyright 2013 Globe Newspaper Company.

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Testing of gene therapies expanding at Boston-area hospitals

Aram Boghosian for The Boston Globe Kirsti Pigney is participating in a trial for gene therapy to treat blindness. She cant tell whether the therapy is working, but said her vision hasnt worsened.

By Carolyn Y. Johnson / Globe Staff/ July 13, 2013

Years after it was hyped, vilified for the death of a teenager, and then mostly forgotten by the general public, gene therapy has rebounded, and hospitals, companies, and investors in the Boston area have jumped on the bandwagon.

Patients are enrolling in a growing number of clinical trials here, and in some cases showing dramatic improvement. The technique, in which doctors infect patient cells with viruses engineered to carry useful genes, has matured and evolved.

Once trumpeted as a possible panacea for diseases ranging from sickle cell anemia to cystic fibrosis, gene therapy faced serious questions after the high-profile death of a Pennsylvania teenager in a clinical trial in 1999. But some researchers continued to work to overcome the safety and technical hurdles. Full story for BostonGlobe.com subscribers.

Copyright 2013 Globe Newspaper Company.

Get the full story with unlimited access to BostonGlobe.com. Just 99 for 4 weeks.

Get Access Now

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Testing of gene therapies expanding at Boston-area hospitals - Boston.com

Habib Torfi and stem cell therapy at Invitrx Therapeutics
Stem Cell Therapy.

By: Habib Torfi

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Habib Torfi and stem cell therapy at Invitrx Therapeutics - Video

Cell Therapy Brunch- Traci Runge

By: Ryan Alan Petti

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Cell Therapy Brunch- Traci Runge - Video

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Alnylam bets on 'gene silencing' to woo biotech investors

July 12, 2013

St. Olaf students Heena Joo 16 (seated) and Petra Hahn 14 (right) are working with Assistant Professor of Biology Lisa Bowers (left) this summer to discover the purpose of a gene they deleted from a common type of bacteria. Using this simple bacteria as a stepping stone could be key in future application to other fields such as embryology and stem cell research.

When researchers at St. Olaf College deleted a single gene from a common type of bacteria, they dramatically altered the cell cycle of the organism. In the process, they created a mutant that had never been studied before.

Theyre hoping this research will help scientists better understand what sort of genes control the cell cycle and for what purpose.

Students in Assistant Professor of Biology Lisa Bowers research class first isolated this important gene back in January. The bacterial species theyre studying, Caulobacter crescentus, usually undergoes two phases of its cell cycle. During the first phase, the cells have a flagellum, a tail-like structure that helps them swim and look for food. When the cells enter the second phase, they shed the flagellum and grow a long sticky stalk, which allows them to stick to surfaces.

The students discovered that deleting the novel gene prevented Caulobacter from growing a stalk during the second phase of its life cycle. This provided the basis for spring researchers Jonathon Peterson 14 and Margret Bradley 13 and summer researchers Petra Hahn 14 and Heena Joo 16 to examine the characteristics of the Caulobacter crescentus mutant.

The summer team, whose work is part of St. Olafs Collaborative Undergraduate Research and Inquiry program, is also working on re-inserting this stalkless gene back into the mutant cell through a process called gene complementation.

To our knowledge, nobody has ever studied this gene before, so part of our summer research is to figure out what it encodes exactly, says Bowers.

Caulobacter works well as a model organism since its short life cycle is characterized by easy-to-see changes. This gives researchers a simpler model to study than, say, a human cell line. Using this simple bacteria as a stepping stone could be key in future application to other fields such as embryology and stem cell research.

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Researchers work to discover purpose of deleted gene

July 12, 2013

[ Watch the Video: Gene Therapy Used By San Raffaele Telethon Institute For Gene Therapy ]

redOrbit Staff & Wire Reports Your Universe Online

The virus that causes AIDS has been used to cure a pair of different genetic diseases, according to research published Thursday in the journal Science.

In the studies, Luigi Naldini, director of the San Raffaele Telethon Institute for Gene Therapy (TIGET) in Italy, and his colleagues report they successfully used HIV to cure metachromatic leukodystrophy and Wiskott-Aldrich syndrome in a total of six children, all of whom are reportedly in good health.

Three years after the start of the clinical trial, the results obtained from the first six patients are very encouraging: the therapy is not only safe, but also effective and able to change the clinical history of these severe diseases, Naldini said in a statement. After 15 years of effort and our successes in the laboratory, but frustration as well, its really exciting to be able to give a concrete solution to the first patients.

The idea to use HIV as a potential treatment option for these two genetic diseases first came about in 1996. Both conditions have, at their core, a genetic defect that causes a deficiency in a protein essential for the patient during the early years of his or her life. In metachromatic leukodystrophy, the nervous system is affected and over time children lose cognitive and motor skills, while in Wiskott-Aldrich syndrome, a faulty immune system results, making the child prone to infections, autoimmune diseases and cancer, the researchers explained.

After several years of laboratory study produced positive results, the TIGET researchers attempted to correct the genetic defect that causes these diseases with gene therapy. The technique required to do so involves the withdrawal of hematopoietic stem cells from the patients bone marrow, then introducing a corrected copy of the gene that is defective using viral vectors derived from HIV. They are then re-injected into the body, allowing the cells to start restoring the missing protein to vital organs.

In patients with Wiskott-Aldrich syndrome, blood cells are directly affected by the disease and the corrected stem cells replace the diseased cells creating a properly functioning immune system and normal platelets, said study coordinator and Head of Research at TIGERs Pediatric Clinic Alessandro Aiuti. Thanks to gene therapy, the children no longer have to face severe bleeding and infection. They can run, play and go to school.

In the case of metachromatic leukodystrophy, however, the therapeutic mechanism is more sophisticated: the corrected hematopoietic cells reach the brain through the blood and release the correct protein that is gathered there by the surrounding nerve cells, added Alessandra Biffi, who led the other study. The winning card was to make engineered cells able to produce a quantity of protein much higher than normal, and thus effectively counteract the neurodegenerative process.

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HIV Virus Used To Cure Two Genetic Diseases

Results for Life, the education and advocacy branch of the American Clinical Laboratory Association, held a briefing on Capitol Hill yesterday to shine a spotlight on the value of genetic and genomic testing, and to explain the importance of funding genomics and biomedical research to lawmakers and staff members.

The event included Rep. Jackie Speier (D - Calif.), who praised genetic testing as having "saved many lives," and called for more research to develop new tests for more types of cancer and other diseases.

"Thanks to results of the human genome project and genomic testing, we're seeing results that allow for real personalized medicine," said Speier, who also encouraged her fellow lawmakers to learn more about these advances, and to "support full funding for the National Institutes of Health...."

Speier, who is co-chair of the House Biomedical Research Caucus, said that many chemotherapy patients see little or no benefit from their treatments, but that genome-based testing will enable doctors to "know when it is going to work, and why it is going to work," on some patients and not others.

Noting the importance of continued research to develop new tests, she explained that NIH Director Francis Collins has said that China will eclipse the US as the leader in genome sequencing in three to five years.

"Now, that should be a warning sign to all of us that if we don't continue to fund NIH and medical research in this country, [then China] will eclipse us. And when they eclipse us, much of the research and technology will leave the US and relocate to China, and we don't want that to happen," Speier said.

Speier was joined by Genomic Health's Steven Shak, who is the company's CMO and executiv VP for R&D, and by a patient advocate with firsthand experience with how genetic testing - the Oncotype Dx test - helped to save her life.

Shak said it is "extremely challenging" to develop such tests, and it takes collaboration and teamwork.

"There is no such thing now as little science. There is big science and big data," he said.

He delivered a background on what the Oncotype test is, how it works, and how widely it is used today, and explained that it required a partnership between industry, government, patient advocates, and academia to develop this test and others like it.

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Genetic Testing Session on Capitol Hill

Professor Robin Feldman on SCOTUS Myriad Genetics Decision

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Professor Robin Feldman on SCOTUS Myriad Genetics Decision - Video

Annual Research Forum - Familial genetics -- what you need to know by Mary-Anne Young
Mary-Anne Young speaking on Familial genetics -- #39;what you need to know #39; at the joint Annual Research Forum held with Ovarian Cancer Australia and Prostate C...

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Annual Research Forum - Familial genetics -- what you need to know by Mary-Anne Young - Video

Scientists have developed a genetic therapy to treat two rare childhood diseases using a component of the HIV virus.

The research, which was detailed in two studies published in Science on June 11, showed that scientists were able to use an HIV virus vector -- which acts as a tool to help put genetic material into cells -- on three children with metachromatic leukodystrophy and three others with Wiskott-Aldrich syndrome. Their diseases have stopped progressing and some of the patients have stopped showing symptoms for 18 to 32 months following the therapy.

Using a vector of the virus, the mechanism in which it gets into cells, is not the same as giving the children the actual HIV virus.

"Three years after the start of the clinical trial, the results obtained from the first six patients are very encouraging. The therapy is not only safe, but also effective and able to change the clinical history of these severe diseases," author Luigi Naldini, a researcher from the San Raffaele Telethon Institute for Gene Therapy, said in a press release.

Metachromatic leukodystrophy is an inherited genetic mutation that causes fats called sulfatides to collect in cells, especially in those that produce a substance that surrounds and protects nerves, called myelin. In patients with the disorder, the sulfatide collection ends up destroying the white matter that makes up part of the nervous system. This affects the brain, spinal chord and sensory cells that registered touch, pain, heat and sound.

Eventually the patients no longer have cognitive functions or motor skills, and they cannot feel different sensations. Other symptoms include seizures, paralysis, inability to speak, blindness, hearing loss and eventually loss of awareness. There is currently no cure.

About one out of 40,000 to 160,000 people worldwide have the disorder, the National Institutes of Health reports. The most common form of the condition, called late infantile form, affects 50 to 60 percent of people with the disorder starting at about 2 years old. Twenty to 30 percent of patients will have a juvenile form which begins to manifest around the age of 4 through adolescence. The adult form affects 15 to 20 percent of patients with metachromatic leukodystrophy, and starts appearing during teenage years or later.

People with Wiskott-Aldrich syndrome do not have a normal immune system and have a harder time creating blood clots. The disease, which is caused by an inherited genetic mutation on the X chromosome, causes abnormal or nonfunctional white blood cells, which puts the patients at risk of immune and inflammatory disorders.

The condition is typically found in males, and has an incidence of 1 to 10 cases per one million males, the NIH said. It is rarely found in women. Wiskott-Aldrich can be treated if the patients receive a bone marrow or stem cell transplant, which can work very well if the donation is a close match.

The researchers used an HIV virus vector to insert a corrected form of defective genes at the root of these diseases into the patients' own blood stem cells. Then, the healthy blood stem cells were surgically implanted in to the subject.

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Gene therapy using part of HIV virus treats two rare childhood diseases

Stem cell therapy future of medicine?
Everyone is talking about stem cell therapy. But scammers and swindlers are also taking advantage of the fad, prompting the Health Department to step in. Bue...

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Stem cell therapy future of medicine? - Video

Manila, Philippines -- If she would have her way, Dr. Marita V.T. Reyes, Co-Chairperson of the Philippine Health Research Ethics Board (PHREB), yesterday said she would put a stop to the medical procedure of stem cell therapy.

Reyes delivered a paper yesterday on the topic, "Ethical Consideration In Stem Cell-based Therapy and Research-Poor Countries," on the last day of the 35th Annual Scientific Meeting of the Department of Science and Technology-National Academy of Science and Technology (DOST-NAST) at the historic landmark Manila Hotel.

Reyes acknowledged that there is a "standard" stem cell therapy treatment involving "hematopoietic disorders," such as "leukemia and lymphomas," through "bone marrow or cord blood transplant."

She, however, emphasized that this cannot be said yet in the cases of diseases of the heart, eyes, diabetes, stroke, spinal cord injury, Parkinson's, Alzheimer's, Lou Gehrig's (ALS), multiple sclerosis, cancer, and cartilage repair.

Stem cell therapy for these diseases, she stressed, should be stopped.

"If I have the power, I will say, 'stop this in the meantime, until the Food and Drug Administration (FDA) has come up with a quality assurance. Until the FDA is able to say that what you say is there, is there, we have no way of protecting our people," said Reyes, when asked about the ethics board's possible advice.

"So, as far as I am concerned, I would like the stem cell therapy, meaning for people who are saying they are using stem cell therapy, to stop, until we have set up very clear quality assurance (system)," the PHREB official said.

Stem cell therapy discussions resulted from the reported death of three Filipino politicians, and the complaint of a government official, after allegedly subjecting themselves from the controversial medical procedure.

Dr. Francisco Chung, Jr., of the Makati Medical Center (MMC), on the other hand, conceded that there are many stem cell procedures that are "experimental in nature."

"What we have approved clinically is bone marrow transplantation," he said, citing the approval of the United States Food and Drug Administration (USFDA).

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Stop stem cell therapy – Doctor

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/9rkkb5/therapy_trends) has announced the addition of the "Therapy Trends: Alzheimer's Disease - Breaking new ground in disease modification" report to their offering.

In 2012, the Alzheimer's disease (AD) market was dealt a huge blow following negative results from pivotal Phase III trials of Pfizer and J&J's bapineuzumab and the intravenous formulation of the drug was discontinued. Expectations for beta-amyloid theory were low following this failure; however results from Eli Lilly's solanezumab have offered a glimmer of hope for the AD community. Although missing its primary endpoints, pooled analysis of solanezumab data in mild patients showed a statistical significant slowdown of cognitive decline.

With novel therapies slowly emerging from the pipeline, such as beta secretase and tau therapies, and positive research into biomarkers to aid early AD diagnosis there is renewed hope as the market enters a new phase of development.

Therapy Trends: Alzheimer's Disease' is compiled from exclusive, in-depth interviews with the world's leading KOLs in AD. It identifies and analyses the major factors, advances and trends currently influencing the AD treatment landscape. The report focuses on late-stage pipeline products, and how these could modify future AD management.

Reasons To Buy

- Comprehend the current trends driving and shaping the global AD market

- Understand the future landscape and how new classes will fit into the treatment algorithm

- Assess the commercial and clinical potential of the pipeline beta-amyloid and BACE inhibitors

- Develop planning strategies based from KOL insight

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Research and Markets: Therapy Trends: Alzheimer's Disease - Breaking New Ground in Disease Modification

And The Winner IS...Monsanto?
The World Food Prize was awarded to three top scientists who played a pivotal role in creating genetically engineered crops, even though most countries refus...

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And The Winner IS...Monsanto? - Video

Public release date: 11-Jul-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 11, 2013Mosquito-borne dengue viruses cause an estimated 50 million cases of human dengue fever a year and are a significant public health threat worldwide. A novel therapeutic approach prevents dengue virus from reproducing in humans by targeting and silencing key regions of the dengue genome essential for viral replication. This innovative treatment strategy and the successful results of initial testing are presented in Nucleic Acid Therapeutics, a peer-reviewed journal from Mary Ann Liebert, Inc. publishers. The article is available on the Nucleic Acid Therapeutics website.

Pei-wen Xie, Yu Xie, Xiu-juan Zhang, Hai Huang, Li-na He, Xue-jun Wang, and Sheng-qi Wang, Beijing Institute of Radiation Medicine and Second Artillery General Hospital, Beijing, and Central South University, Changsha, China, identified multiple regions in the dengue virus genome that have maintained the same nucleic sequence over long periods of evolution. These highly conserved regions are ideal targets for antiviral drug development as they are unlikely to mutate and allow the virus to develop drug resistance.

In the article "Inhibition of Dengue Virus 2 Replication by Artificial MicroRNAs Targeting the Conserved Regions," the authors describe how they constructed artificial short strands of nucleic acids called microRNAs that specifically target these conserved sites in the dengue virus genome. Their experiments led to the identification of the most effective combinations of microRNAs capable of inhibiting the virus from replication in humans.

"The dengue virus is endemic in over 100 countries and spreading rapidly," says Executive Editor Fintan Steele, PhD, SomaLogic, Inc., Boulder, CO. "In the absence of effective preventive measures, new treatments like those being pursued by Xie et al. are desperately needed."

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Nucleic Acid Therapeutics is under the editorial leadership of Co-Editors-in-Chief Bruce A. Sullenger, PhD, Duke Translational Research Institute, Duke University Medical Center, Durham, NC, and C.A. Stein, MD, PhD, City of Hope National Medical Center, Duarte, CA; and Executive Editor Fintan Steele, PhD (SomaLogic, Boulder, CO).

About the Journal

Nucleic Acid Therapeutics is an authoritative, peer-reviewed journal published bimonthly in print and online that focuses on cutting-edge basic research, therapeutic applications, and drug development using nucleic acids or related compounds to alter gene expression. Nucleic Acid Therapeutics is the Official Journal of the Oligonucleotide Therapeutics Society. Complete tables of content and a free sample issue may be viewed on the Nucleic Acid Therapeutics website.

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New therapeutic strategy targets dengue virus using artificial microRNAs

Carrier screening can prevent disease in families, but some doubt that it can change population-level incidence of disease.

One in 100 babies worldwide is born with a disease caused by a single gene, according to the World Health Organization. Two genetics companiesCounsyl and GoodStart Geneticsare now using low-cost sequencing as a way to provide a more comprehensive look at parents genes than has previously been available. The companies hope to better inform prospective parents about hidden single-gene diseases and potentially reduce their incidence.

Although most of these individual single-gene disease are rare, collectively they account for about 20 percent of infant deaths. When a disease gene is recessive, as is the case with sickle-cell anemia, Tay-Sachs, or cystic fibrosis, parents are unlikely to know they are carriers. If both parents carry a broken copy, they will have a 25 percent chance of having a child with the condition.

Doctors do screen prospective or expecting parents for a handful of diseases, but these tests are limited. Traditionally, the tests look for specific mutations for a particular disease, while the condition could be caused by many different mutations that are passed from generation to generation. Generally, these tests top out at around 100 mutations, says Gregory Porreca, a co-founder and vice president of research and technology at GoodStart Genetics. The reason is that every additional mutation will add cost, but the problem is that disease-causing mutations can be missed. For example, a traditional cystic fibrosis test would miss out on hundreds of disease-causing mutationsPorreca says that about 550 disease-causing mutations in the cystic fibrosis gene have been reported in the scientific literature. With sequencing, you can look for all of them, he says.

GoodStart Genetics uses sequencing technology from Illumina combined with proprietary methods of capturing genes of interest from a blood sample. The company offers tests for 23 different diseases, 15 of which are based on sequencing technology. The company launched in April 2012 and says it has processed over 100,000 tests. Counsyl began to offer sequencing-based screening in June. The company screens for more than 100 different genetic disorders.

One option for parents who learn prior to conceiving that they both carry a mutation in the same recessive gene allele would be to use in-vitro fertilization (a costly and intensive procedure). With in-vitro fertilization, embryos can be tested for the presence of the disease before being implanted in the mother.

But whether comprehensive carrier screening will reduce the overall incidence of disease depends on the behaviors of the communities affected by it. In the last few decades, the number of children born with Tay-Sachs diseasea neurologically degenerative disorder that often takes a childs life by the age of five and is relatively common among Ashkenazi Jewshas been reduced by 90 percent in that population in North America. That remarkable change was dependent on selective marriage based on screening and in utero testing.

But that example may be an exception rather than a rule. Its hypothetical that carrier testing on a broad scale would effectively reduce the incidence of genetic illnesses, says Stephen Kingsmore, director of Pediatric Genomic Medicine at Childrens Mercy Hospital in Kansas City, Missouri. To better understand the power of comprehensive carrier screening, Kingsmore is running a long-term project in an Amish community to test whether sequencing-based carrier screening can reduce the incidence of disease.

Whether the screening will ultimately reduce babies born with genetic disease will, of course, ultimately depend on the decisions of the parents.

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Better Screening for Deadly Genetic Diseases

Scientists have created genetically-engineered mice with artificial human chromosomes in every cell of their bodies, as part of a series of studies showing that it may be possible to treat genetic diseases with a radically new form of gene therapy.

Click image above to enlarge graphic

In one of the unpublished studies, researchers made a human artificial chromosome in the laboratory from chemical building blocks rather than chipping away at an existing human chromosome, indicating the increasingly powerful technology behind the new field of synthetic biology.

The development comes as the Government announces today that it will invest tens of millions of pounds in synthetic biology research in Britain, including an international project to construct all the 16 individual chromosomes of the yeast fungus in order to produce the first synthetic organism with a complex genome.

A synthetic yeast with man-made chromosomes could eventually be used as a platform for making new kinds of biological materials, such as antibiotics or vaccines, while human artificial chromosomes could be used to introduce healthy copies of genes into the diseased organs or tissues of people with genetic illnesses, scientists said.

Researchers involved in the synthetic yeast project emphasised at a briefing in London earlier this week that there are no plans to build human chromosomes and create synthetic human cells in the same way as the artificial yeast project. A project to build human artificial chromosomes is unlikely to win ethical approval in the UK, they said.

However, researchers in the US and Japan are already well advanced in making mini human chromosomes called HACs (human artificial chromosomes), by either paring down an existing human chromosome or making them de novo in the lab from smaller chemical building blocks.

Natalay Kouprina of the US National Cancer Institute in Bethesda, Maryland, is part of the team that has successfully produced genetically engineered mice with an extra human artificial chromosome in their cells. It is the first time such an advanced form of a synthetic human chromosome made from scratch has been shown to work in an animal model, Dr Kouprina said.

The purpose of developing the human artificial chromosome project is to create a shuttle vector for gene delivery into human cells to study gene function in human cells, she told The Independent. Potentially it has applications for gene therapy, for correction of gene deficiency in humans. It is known that there are lots of hereditary diseases due to the mutation of certain genes.

Synthetic biology is loosely defined as designing new kinds of life-forms or making new genetic arrangements that do not exist in nature, which could provide practical benefits to society, notably in medicine, manufacturing or environmental monitoring.

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Exclusive: Mice with human chromosomes - the genetic breakthrough that could revolutionise medicine

Public release date: 11-Jul-2013 [ | E-mail | Share ]

Contact: Jia Liu liujia@genomics.cn BGI Shenzhen

July 11, 2013, Shenzhen, China - An international consortium, consisting of Autism Speaks, Duke University School of Medicine, The Hospital for Sick Children of Toronto, BGI and other institutes, has investigated the genetic variants in 32 families with Autism Spectrum Disorder (ASD). The results show that whole genome sequencing and analysis promise great value to identify de novo or rare inherited mutations that give rise to autism in ASD groups. The findings were published online today in American Journal of Human Genetics.

Autism is the fastest growing developmental disorder in the United States, or even the whole world. It is estimated that 1 in every 88 children in the United States is diagnosed with autism, which is greater than the prevalence of pediatric AIDS, cancer, and diabetes combined. It can rob the individual of typical development from childhood to adolescence to adulthood, and bring huge burden on the families.

The discoveries of genetic mutations can substantially increase people's understanding of the underlying biology of autism. In this study, researchers surveyed all the risk mutations in ASD patient groups by whole genome sequencing (WGS), and try to fully describe the genetic architecture of autism. The results may give critical insight into the molecular and cellular processes that may be preferentially targeted for disruption by genetic lesions in autism patients.

The study shows that the proportions of deleterious de novo mutations and X-linked or autosomal inherited alterations are higher than the previous reports with 19% and 31%, respectively. Researchers speculated the partial reason maybe the more comprehensive and uniform coverage afforded by WGS. Compared to exome sequencing technology, WGS also shows great advantages in efficiency and accuracy.

Researchers also identified the deleterious mutations variants in 4 novel, 9 known, and 8 candidate autism risk genes, including CAPRIN1 and AFF2 (both linked to FMR1 involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (also linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.

"From diagnosis to treatment to prevention, whole genome sequencing efforts like these hold the potential to fundamentally transform the future of medical care for people with autism," stated Autism Speaks Chief Science Officer and study co-author Robert Ring, Ph.D.

Yingrui Li, CEO of BGI Tech, one of BGI's affiliates, said "Whole-genome sequencing may serve as a powerful tool to advance new effective treatments to improve the lives of individuals and families with autism. Early diagnosis is important for autism, which can help a child with autism make significant gains in language and social skills."

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Whole genome sequencing opens a new way for the diagnosis and medical therapy for autism

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Results for Life Hosts Capitol Hill Briefing to Underscore the Value of Genetic and Genomic Lab Tests

EL SEGUNDO, Calif.--(BUSINESS WIRE)--

Murad, Inc. announced today that Creating a Healthy Life, an art exhibition featuring works by Howard Murad, M.D. FAAD, founder of Murad, Inc. and the Inclusive Health movement, will open Saturday, July 13, 2013 at the University of Southern Californias Institute for Genetic Medicine Art Gallery (IGMAG). The exhibition, which is sponsored by USC IGM Art Gallery Advisory Council, artAngels.org and Murad Inc., will be open to the public free of charge and will run through October 25, 2013.

Creating a Healthy Life showcases art inspired by Dr. Murads Inclusive Health system of carea groundbreaking, integrative health approach that emphasizes the impact of lifestyle choices on the aging process. Dr. Murads system encourages patients to Look Better by taking care of their skin with targeted treatments; to Live Better by eating a healthy, water-rich diet and to Feel Better by managing stress through a youthful and creative approach to life. The works featured in Creating a Healthy Life represent the artistic expression of the synergy between these three facets of his philosophy.

Dr. Howard Murads comprehensive theory of health and aging caught our attention while we were organizing the Aging People/Aging Planet exhibition in collaboration with the USC Leonard Davis School of Gerontology, says Lynn Crandall, Director at USC Institute for Genetic Medicine Art Gallery. Creating a Healthy Life brings together public, private, nonprofit/faith-based, academic and media leaders to join with Dr. Murad to ensure a bright future for the next generation and generations yet unborn. Dr. Murads comprehensive approach is a model that can be understood at all levels of stewardship self, others and the planet.

The exhibitions at the USC Institute for Genetic Medicine Art Gallery investigate systemic change and pattern formation. Exhibitions and programs are designed to inspire discussion and collaboration to better understand and manage change and ensure a bright future for upcoming generations. Education and cultural events explore the costs and benefits to mankind in the context of longevity of the physical body and the quality of life and culture of all members of the global family.

Life is Art, says Dr. Murad. It may not be a painting, a sculpture, a novel or a piece of music, but it has a lot in common with these things because living is a creative undertaking. The discovery of how art can heal in ways that traditional medicine cannot, changed the way I look at life, interact with others and approach the practice of medicine.

The IGM Art Gallery is open Monday through Friday, 8:30 a.m. to 5:30 p.m. and by appointment on weekends. The Institute for Genetic Medicine is located at 2250 Alcazar Street, 2nd Floor, Los Angeles, CA 90033, on the USC Health Sciences Campus. For more information, visit http://www.usc.edu/igm.

ABOUT MURAD, INC.

Murad was founded in 1989 by Dr. Howard Murad, a board certified dermatologist, trained pharmacist and Associate Professor at the UCLA, Geffen School of Medicine. Murad offers people a path to youthful good health through science-based, clinically-proven skincare and healthcare products that have been developed as part of Dr. Murads Inclusive Health system of care. With a full range of skin-condition-specific, high-performance products for home and spabacked by 19 unique patents for advancing the science of skin health and a 30 year legacy of research and clinical testingmillions of people look to Murad with confidence for products, services and tools to help them look, live and feel Better Every Day.

Murad is used and recommended by over 30,000 professionals all across the globe and is sold in over 40 countries.

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Dr. Murad’s Creating a Healthy Life Exhibition Opens at the USC Institute for Genetic Medicine Art Gallery