Archive for the ‘Gene Therapy Research’ Category

Genetics problems 10 polygenic inheritance
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Genetics problems 13 blood group problems
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kush dreams dna genetics
kush dreams dna genetics.

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13 - Genetics

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Controversy is brewing after a genetics company received a patent that might allow prospective parents to calculate the traits of their future offspring.

23AndMe is a company that allows the average consumer to analyze their genetic code. The test provides genetic information on more than 240 disease and physical traits, which can be used for various reasons including determining personal risk of getting breast cancer or helping long-lost siblings find each other.

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"We started the company really with the idea that we wanted to do something revolutionary, where consumers could come, learn tons of information about themselves and really start to revolutionize health care," 23andMe co-founder Anne Wojcicki previously told CBS This Morning in July 2012.

The U.S. company recently received a patent for their Family Traits Inheritor Calculator, which allows couples to send in a saliva sample to see what kinds of genetic traits and diseases could be passed to their children.

However, the application for the patent stated that the company was also seeking to use this technology in fertility clinics. This led critics to think that couples could potentially create "designer babies," not only picking children based on disease avoidance but on their looks and other physical characteristics. Especially in the fertility clinic setting, the "GATTICA"-like scenario would allow couples to screen through numerous egg and sperm donors in order to pick a genetically superior child.

"It would be highly irresponsible for 23andMe or anyone else to offer a product or service based on this patent," Marcy Darnovsky, executive director of the Center for Genetics and Society, said in a statement.

"We believe the patent office made a serious mistake in allowing a patent that includes drop-down menus for which to choose a future child's traits," she added.

A commentary in Genetics and Medicine published on Oct. 3 also warned against parents using the technology to hand-pick genes for their children. The authors called the practice "ethically controversial."

"The use of preimplantation genetic diagnosis to avoid implantation of embryos bearing serious genetic abnormalities is by now becoming commonplace, but a computerized process for selecting gamete donors to achieve a baby with a 'phenotype of interest' that the prospective parent 'desires in his/her hypothetical offspring,' as 23andMe puts it, seems to have much broader implications, for this process also entails the selection of traits that are not disease related," they wrote.

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Critics fear new patent will breed "designer babies"

RUTHERFORD, N.J., Oct. 4, 2013 (GLOBE NEWSWIRE) -- Cancer Genetics, Inc. (CGIX) ("CGI" or the "Company"), an emerging leader in DNA-based cancer diagnostics that personalizes the clinical management of difficult-to-diagnose cancers, today announced its president and CEO, Panna Sharma, will participate in a panel discussion at BioNJ's inaugural CEO Summit from 1:40 p.m. to 2:40 p.m. ET on October 4, 2013 in Bridgewater, New Jersey. The first of its kind summit will bring together chief executive officers and leaders from major biotech and pharmaceutical firms from New Jersey and beyond this fall to share their knowledge, experiences and views on the future in wide-ranging discussions with fellow executives, investors, entrepreneurs, academics and other members of the State's diverse and ever-evolving life sciences community.

The panel discussion, "How Wide is the Crack in the IPO Window," will feature first-hand IPO experiences shared by Mr. Sharma and other panelists from biotech companies such as Chimerix and Omthera Pharmaceuticals that all went public during 2013. In April of 2013, Mr. Sharma successfully led CGI through an IPO and secondary offering in August, raising gross proceeds in excess of $23 million for the Company. CGI is ranked the 8th best biotech IPO of the year and one of the top-20 overall best-performing IPOs for 2013, based on year-to-date returns through the close of trading on October 1, 2013.

Mr. Sharma became a board member and CEO of CGI in May of 2010. Under his tenure, CGI has consistently grown revenues and margins while launching five proprietary DNA-based cancer diagnostics and establishing partnerships and collaborations with leading cancer institutions, including Mayo Clinic, Memorial Sloan-Kettering Cancer Center, and National Cancer Institute. Mr. Sharma also serves on the board of CGI's joint venture in next-generation sequencing with the Mayo Clinic, Oncospire Genomics, based in Rochester, Minnesota.

Prior to CGI, Mr. Sharma was at TSG Partners, a specialty life sciences consultancy and advisory company, from 2001 to 2010, where he was the Managing Partner and founder. At TSG he led the development of strategic initiatives, corporate growth strategy and corporate turnarounds for both public and private companies. He also led over 70 buy- and sell-side transactions for life sciences, healthcare and biopharma companies. At TSG, he established the Global Diagnostics Index, the Global Biotools Index and several other life science capital markets indices that are still used in the life science industry.

Prior to founding TSG, Mr. Sharma was the Chief Strategy Officer for iXL Enterprises, Inc. ("iXL"), a public e-business consultancy where he led strategy development and acquisitions activity and was part of the management team that aided in taking the company public in June 1999.

The BioNJ CEO Summit will take place at the Bridgewater Marriott in Bridgewater, New Jersey. To register, please visit http://www.bionj.org/

About Cancer Genetics:

Cancer Genetics, Inc. is an emerging leader in DNA-based cancer diagnostics that personalizes the clinical management of difficult-to-diagnose cancers. These cancers include hematological, urogenital and HPV-associated cancers. The Company's comprehensive range of oncology-focused tests and laboratory services provide critical genomic information to healthcare professionals, cancer centers, and biopharma companies. Through its CLIA certified and CAP accredited state-of-the-art reference lab, Cancer Genetics services some of the most prestigious medical institutions in the world and has strong research collaborations with major cancer centers such as Memorial Sloan-Kettering, The Cleveland Clinic, Mayo Clinic and the National Cancer Institute. For further information, please see http://www.cancergenetics.com.

Forward-Looking Statements:

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements pertaining to future financial and/or operating results, future growth in research, technology, clinical development and potential opportunities for Cancer Genetics, Inc. products and services, along with other statements about the future expectations, beliefs, goals, plans, or prospects expressed by management constitute forward-looking statements. Any statements that are not historical fact (including, but not limited to, statements that contain words such as "will," "believes," "plans," "anticipates," "expects," "estimates") should also be considered to be forward-looking statements. Forward-looking statements involve risks and uncertainties, including, without limitation, risks inherent in the development and/or commercialization of potential products, uncertainty in the results of clinical trials or regulatory approvals, need and ability to obtain future capital, and maintenance of intellectual property rights and other risks discussed in the Company's Form 10-Q for the quarter ended June 30, 2013 and other filings with the Securities and Exchange Commission. These forward-looking statements speak only as of the date hereof. Cancer Genetics disclaims any obligation to update these forward-looking statements.

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Cancer Genetics, Inc. CEO Panna Sharma to Participate in Panel at BioNJ CEO Summit

SEATTLE, WA--(Marketwired - Oct 4, 2013) - Atossa Genetics Inc. (NASDAQ: ATOS), The Breast Health Company, will host a conference call at 5:45 pm Eastern Time today to discuss the Company's voluntary recall of its ForeCYTE Breast Health Test; Mammary Aspiration Specimen Cytology Test (MASCT) System, which was announced today at 5:00 pm Eastern Time.

To listen to the call by phone, interested parties within the U.S. may dial 866-652-5200. International callers should dial 412-317-6060. All callers should ask for the Atossa Genetics conference call. The conference call will also be available through a live webcast at http://services.choruscall.com/links/atossa131003.html.

A replay of the call will be available one hour after the end of the call through November 4, 2013, and can be accessed via Atossa's website or by dialing 877-344-7529 (domestic) or 412-317-0088 (international). The replay conference ID number is 10034877.

About Atossa Genetics, Inc.

Atossa Genetics, Inc. is focused on the commercialization of patented, diagnostic medical devices and, through its wholly-owned subsidiary, The National Reference Laboratory for Breast Health, Inc. (NRLBH), patented, laboratory developed tests designed to assess breast health.

The NRLBH is a CLIA-certified high-complexity molecular diagnostic laboratory located in Seattle, Washington.

For additional information, on Atossa and the NRLBH, please visit http://www.atossagenetics.com and http://www.nrlbh.com.

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Atossa Genetics Conference Call and Webcast Notice

Genetics and Gene Therapy Concerning Hormones
Gene Therapy and Genetics program by the Conscious Evolution Institute of Hormone Replacement Therapy. For more information visit the Conscious Evolution Ins...

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Genetics and Gene Therapy Concerning Hormones - Video

Mice with and without gene therapy treatment
These mice are male "Rett" mice. The mouse moving around was given gene therapy treatment and received healthy Mecp2 gene. The immobile mouse did not receive...

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Mice with and without gene therapy treatment - Video

Cecilia Lundberg, Professor of Neuroscience, Lund University
Cecilia Lundberg #39;s research group is focused on developing vectors for use in gene therapy to treat diseases in the brain. Furthermore, they also aim to expl...

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Cecilia Lundberg, Professor of Neuroscience, Lund University - Video

Nicolas Chomont, Ph.D. - Principal Investigator
Nicolas Chomont, Ph.D.Nicolas Chomont, Ph.D., is a principal investigator at the Vaccine Gene Therapy Institute of Florida. He is an internationally recogn...

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Nicolas Chomont, Ph.D. - Principal Investigator - Video

AMSTERDAM, Netherlands, Oct. 4, 2013 (GLOBE NEWSWIRE) -- uniQure B.V., a leader in human gene therapy, today announced that Christian Meyer, M.D., Ph.D., has joined the company as Chief Medical Officer. Dr. Meyer has 18 years of clinical research experience with both biotechnology companies and large pharma, with particular expertise in the development of treatments for rare diseases, including Acute Intermittent Porphyria and lysosomal storage disorders.

"Since joining uniQure early in the year as a consultant, Christian has built an extremely experienced clinical development team. This team is operating already at a high level as our pipeline programs advance into further clinical evaluation in the next 12-24 months," said Jorn Aldag, CEO of uniQure. "Christian's leadership in clinical development as well as his focus on rare diseases is a tremendous resource for the company and we are very glad to welcome him officially to the management team."

"I have been impressed with both the company's achievements in gaining approval for Glybera in the European Union and the potential of our gene therapy approach," added Dr. Meyer. "I am fully committed to reaching the next level of development for our pipeline."

Christian Meyer joins uniQure from Cardoz AB where he spent three years as Chief Medical Officer. From 2006 to 2010, Dr. Meyer held leadership positions in clinical development at Symphogen A/S, where he was Senior Vice President for Medical Affairs and Vice President, Clinical Development. Prior to Symphogen, he played an important role in clinical development at Zymenex A/S and spent five years in clinical development at Novo Nordisk A/S. Dr. Meyer received both his M.D. and Ph.D. degrees from the University of Copenhagen, Denmark.

About uniQure

uniQure is delivering on the promise of gene therapy, single treatments with potentially curative results. We have developed a modular platform to rapidly bring new disease modifying therapies to patients with severe disorders. Our approach is validated by multiple partnerships and the regulatory approval of our lead product Glybera. http://www.uniqure.com.

Press release (PDF): http://hugin.info/157414/R/1733550/580459.pdf

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Christian Meyer Joins uniQure as Chief Medical Officer

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/z9p4jj/diabetic) has announced the addition of the "Diabetic Retinopathy - Pipeline Review, H2 2013" report to their offering.

'Diabetic Retinopathy - Pipeline Review, H2 2013', provides an overview of the indication's therapeutic pipeline. This report provides information on the therapeutic development for Diabetic Retinopathy, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Diabetic Retinopathy.

Scope

- A snapshot of the global therapeutic scenario for Diabetic Retinopathy.

- A review of the Diabetic Retinopathy products under development by companies and universities/research institutes based on information derived from company and industry-specific sources.

- Coverage of products based on various stages of development ranging from discovery till registration stages.

- A feature on pipeline projects on the basis of monotherapy and combined therapeutics.

- Coverage of the Diabetic Retinopathy pipeline on the basis of route of administration and molecule type.

- Key discontinued pipeline projects.

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Research and Markets: Diabetic Retinopathy - Pipeline Review, H2 2013

Public release date: 3-Oct-2013 [ | E-mail | Share ]

Contact: Nicole Rura rura@wi.mit.edu 617-258-6851 Whitehead Institute for Biomedical Research

CAMBRIDGE, Mass. (October 3, 2013) Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found in the neurons of Rett syndrome patients and could lead to novel therapies for the disease.

"The action of the MECP2 protein is just the opposite of how it was held for the past 15 years," says Whitehead Founding Member Rudolf Jaenisch, who is also a professor of biology at MIT. "It was thought that this protein globally repressed the expression of methylated DNA. What this work shows is when you do the analysis in a way that takes cell size into accountcell size is very different in Rett neurons compared to wild typethen suddenly we can see that the protein acts like a global activator. We've defined the function of MECP2 in a totally different way."

Rett syndrome is an X-linked genetic disease affecting one in 10,000 newborn girls. Infants with the disease appear to develop normally for their first six to 18 months, at which point their movement and language skills begin to deteriorate. Loss of speech, reduced head size, breathing and heart rhythm irregularities, and autistic-like symptoms are common by age four. Some symptoms may be treated with prescription drugs, but no cure or disease-modifying therapy exists. Previous work by the Jaenisch lab has provided some hope for the families of Rett patients. In a mouse model lacking the MECP2 gene, which is mutated in approximately 95% of girls with Rett syndrome, mice injected with the protein IGF-1 had more regular breathing and heart rhythms than did untreated mice. In addition, the brains of treated mice had greater mass and more of the vital neuronal projections that are missing in Rett syndrome mice and human patients.

In the current research, Yun Li, a postdoctoral researcher in the Jaenisch lab, analyzed the global gene expression of MECP2-deficient neurons derived from human embryonic stem cells. Unlike earlier research, Li took into account the Rett neurons' smaller size when comparing their gene expression to neurons with intact MECP2. The Rett neurons had decreased mRNA transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway, which is activated by IGF-1. Li's work is published in the October 2nd issue of Cell Stem Cell.

"We have always found it strange that MECP2 mutant mice, which share many of the severe neurological problems as really sick kids with Rett syndrome, have very few transcriptional changes detectable on a microarray. That doesn't seem to support a global repressor role for the MECP2 protein. There had to be something wrong," says Li. "Now we have a much better understanding of the function of MECP2, and the severity of the disease on a cellular level. Knowing that human Rett neurons are impaired in both global transcription and translation is important for us to design therapeutic strategies for Rett. Growth factors such as BDNF and IGF-1 are known to activate the AKT/mTOR pathway and increase protein synthesis. Down the road, we are interested in further exploring the Akt/mTOR pathway, and investigate how activation of this pathway could reverse the disease."

###

This work is supported by the Simons Center for the Social Brain, Brain and Behavior Research Foundation, International Rett Syndrome Foundation, Croucher Foundation, Swedish Research Council (VR-B0086301), National Institutes of Health (NIH grants R01-HG002668, P30-CA14051, HD 045022, R37-CA084198), Koch Institute, Curt Marble Cancer Research Fund, Simons Foundation Autism Research Initiative, and Ethel Louise Armstrong Foundation.

Rudolf Jaenisch's primary affiliation is with Whitehead Institute for Biomedical Research, where his laboratory is located and all his research is conducted. He is also a professor of biology at Massachusetts Institute of Technology.

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Rett syndrome gene dysfunction redefined

They were mystery diseases that had stumped doctors for years - adults with strange symptoms and children with neurological problems, mental slowness or muscles too weak to let them stand. Now scientists say they were able to crack a quarter of these cases by decoding the patients' genes.

Their study is the first large-scale effort to move gene sequencing out of the lab and into ordinary medical care, and it shows that high hopes for this technology are finally paying off.

"This is a direct benefit of the Human Genome Project," the big effort to decode our DNA, said Dr. Christine M. Eng of Baylor College of Medicine in Houston. "We're now able to directly benefit patients through more accurate diagnosis."

She led the study, which was published online Wednesday by the New England Journal of Medicine. It gives results on the first 250 patients referred to Baylor for a newer type of sequencing - just the DNA segments that hold the recipes for all the proteins the body needs. That's only about 1 percent of the whole genome.

Baylor has sequenced more patients beyond those in the study - 1,700 so far - and found gene flaws in 1 out of 4, Eng said.

That rate will improve as more genes are linked to diseases, but it's already much higher than the less comprehensive gene tests done now, said Rebecca Nagy, a scientist at Ohio State University and president of the National Society of Genetic Counselors.

"For some of these conditions there could be treatments that are lifesaving," she said.

Already, three people tested at Baylor were found to have a muscle disorder that can cause respiratory problems and even death. The condition is aggravated by infections and stress, and there are drugs to treat those and prevent serious episodes, Eng said.

In other cases, having a diagnosis helped parents like Lindsey and Brandon Collier decide whether to have more children. The Colliers, who live in Georgetown, Texas, about 30 miles north of Austin, searched for years for an answer to what was plaguing their son, Cannon, now 4.

"He was a pretty floppy baby" with poor muscle tone and problems eating, Lindsey Collier said. "We weren't getting any answers and they were just all over the map on everything they were testing for."

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Gene scans help solve mystery diseases in kids, adults

Ral receives President of Timor-Leste President visits Genetic Engineering and Biotechnology Center

PRESIDENT Ral Castro Ruz received on September 27 President Taur Matan Ruak of the Democratic Republic of Timor-Leste, during the latters official visit to Cuba.

After the official reception ceremony, the two leaders reviewed the excellent state of bilateral relations and expressed their will to consolidate cooperation, particularly in the context of health and education. They also discussed current international issues.

During his stay, the Timor Leste President and his delegation met with scientists at the Genetic Engineering and Biotechnology Center (CIGB), where they were presented with medicines developed by this institution, such as the recognized Heberprot-P for the treatment of diabetic foot ulcers, and the vaccine against Hepatitis B, included on the 171 registers of 14 products in 57 countries, as the CIGB researchers confirmed.

Timorese Health Minister Sergio Gama Lobo showed interest in these two Cuban products and inquired into their application.

The scientists also referred to the possibility of establishing cooperation between the institution and the Timor Leste government for the treatment of foot ulcers, as a way of raising the quality of life of persons suffering from diabetes.

At the end of his visit to the Center, President Taur Matan Ruak affirmed that there are two ways of treating people in the world: one is preventative and the other curative, and the better one is that of Cuba; preventative health care.

He subsequently stated that education and innovation are key to increased collaboration between the two nations, which he reiterated before leaving the country, saying that he is seeking to consolidate relations between Timor Leste and Cuba, above all in the health and education sectors.

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Raúl receives President of Timor-Leste

By changing the way certain organisms process sugar, UCLA researchers have shown how to produce more biofuel.

Ethanol boosters: The bacteria in this petri dish have been genetically modified to increase the amount of biofuel that can be made from sugar.

Researchers at UCLA have opened a path to cheaper and cleaner biofuels by using genetic engineering to fundamentally change how certain organisms process sugar.

Conventional biofuels are either too expensive to compete with fossil fuels or they release so much carbon dioxide that theyre hardly worth makingor both.

The UCLA advance, which increases the amount of biofuel that can be made from sugar by 50 percent, could make it cheaper to produce biofuels from a variety of sources, especially biomass such as wood chips and grass. The U.S. biofuels industry is in desperate need of such advanceseven though Congress has mandated that a certain amount of biofuel from biomass be blended with gasoline, high costs and other factors have limited production, leading the EPA to repeatedly waive the requirement.

The UCLA work is a promising advance in biofuels technology, says Wade Robey, chief technology officer at the ethanol producer POET. He says it shows the potential of advanced genetic engineering to drastically reduce both greenhouse gas emissions and the amount of corn or biomass used to produce a gallon of biofuel.

In conventional biofuels production, sugar derived from sources such as corn and biomass is fed to yeast, which ferments it to produce ethanol. But the fermentation process wastes a third of the carbon atoms that make up sugar; rather than being used to make ethanol, the carbon is released in the form of carbon dioxide.

The UCLA researchers cobbled together genes from a variety of organisms to create an alternate way to process sugar that doesnt emit any carbon dioxide, and uses all of the carbon in sugar to make biofuel. They created genetically modified E. coli bacteria to demonstrate the process, but they say the same genetic pathway could be incorporated into other organisms, including yeast.

Anytime you use fermentation, you lose one-third of the carbon to carbon dioxide. We can retain that carbon, reduce the carbon footprint of ethanol production, and make more money, says James Liao, professor of chemical and biomolecular engineering at UCLA.

In order to use all of the carbon in sugar, its necessary to add hydrogen to the process. The source of that hydrogen and its cost relative to the cost of sugar determine both the total carbon emissions and the cost savings. Using hydrogen from natural gas is the cheapest option. But getting hydrogen from natural gas also releases carbon dioxide, offsetting some of the carbon dioxide savings of the new process. In this case, emissions from the production of ethanol would be reduced by about 50 percent. Using hydrogen made by splitting water with solar power would eliminate all of the carbon dioxide emitted during fermentation, but the cost would likely be too high for the process to be economical.

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Genetically Modified Bacteria Produce 50 Percent More Fuel

Oct. 2, 2013 A genetic condition that attacks multiple organs and usually results in fatal heart problems can be detected using a new MRI technique that was developed at the University of Alberta. The discovery of this new diagnostic tool has resulted in updated clinical guidelines for the diagnosis and treatment of Fabry disease in Canada.

Faculty of Medicine & Dentistry researchers Gavin Oudit and Richard Thompson worked with Faculty colleagues Kelvin Chow and Alicia Chan on the discovery, as well as Aneal Khan from the University of Calgary. The findings were recently published in the peer-reviewed journal, Circulation -- Cardiovascular Imaging, and involved 31 Alberta patients who have the disease.

Thompson and trainee Chow developed the MRI technique known as T1 mapping which can detect heart damage and changes at early stages -- earlier than regular MRI scans or ultrasound. When this type of MRI is used on patients with Fabry disease, the scans can detect both the disease and the severity of damage to the heart. The T1 mapping method developed by Thompson's group can be easily programmed onto MRIs around the world.

"This test can uniquely identify Fabry disease by detecting microscopic changes in the heart muscle structure that are not visible on regular images," says Thompson, who works in the Department of Biomedical Engineering. "Fabry disease can look like other diseases if you only look at the whole heart structure or function, but this T1 mapping test, that can detect the tiniest changes in the heart, could identify all the patients with Fabry disease."

Oudit added: "It is very likely that this technique will become a key part in clinical examination of patients with Fabry disease. This finding will advance the clinical care of these patients around the world. The implications will be widespread.

"Heart disease is the number one cause of death for patients with Fabry disease. The earlier the disease can be pinpointed, the sooner treatment can start. The treatment for the disease halts the condition and prevents serious damage to the heart."

Fabry disease is a genetic metabolic condition that destroys the enzyme involved in fat metabolism. This enzyme breaks down fat so without it, those with the disease accumulate deadly fat deposits in their heart, kidneys and brain. The condition affects 1 in 1,500 to 3,000 people, but was originally thought to be a rare disease. Some countries now screen newborns for the condition that costs $200,000 a year to treat through monthly infusions called enzyme replacement therapy. Symptoms of the disease include: heart failure, thickened walls of the heart, exercise intolerance, fluid buildup in the legs, blackouts, inability to lie down, strokes, tingling in the hands and feet, and changes in skin pigmentation.

It is estimated that about 1,000 Albertans are living with the disease but not everyone who has the condition has been diagnosed. Sometimes people will see scores of kidney and heart specialists for years before anyone diagnoses the condition. Men can have a blood test to identify the condition, while women -- who may also carry the disease without showing symptoms -- need to undergo genetic testing. The T1 mapping test can both pinpoint the disease and assess damage to the heart.

Oudit says the discovery of the new MRI technique "is a wonderful story of collaboration -- of patients, clinicians, scientists and industry working together to find a new diagnostic tool." Oudit is a heart failure specialist who works in the Division of Cardiology in the Department of Medicine at the Mazankowski Alberta Heart Institute.

"As an organization, we are excited to be part of these developments through the research from the University of Alberta," says Mauro Chies, acting vice-president of clinical supports for Alberta Health Services. "This is a significant advancement in the detection of disease in a non-invasive environment for our patients. We hope to be able to advance these sequences on our MRIs in the near future, and look for ways to use it to evaluate and detect other disease conditions."

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New MRI technique detects genetic condition that attacks the heart, brain, nerves

Public release date: 3-Oct-2013 [ | E-mail | Share ]

Contact: Mount Sinai Press Office newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

NEW YORK (October 3, 2013) -- Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder. That means those individuals -- seven percent of the study group -- had one copy of one or more genes when they should have had two.

The scientists further report, in the American Journal of Human Genetics, that their analysis suggests the deletions may result in the miswiring and altered activity of brain neurons.

"This is the first finding that small deletions impacting one or two genes appear to be common in autism, and that these deletions contribute to risk of development of the disorder," says the study's lead investigator, Joseph D. Buxbaum, PhD, Professor of Psychiatry, Genetics and Genomic Sciences and Neuroscience at the Icahn School of Medicine at Mount Sinai.

"This conclusion needs to be expanded in other independent samples of ASD so that we can truly understand how the risk manifests," he says.

That process is now ongoing, Dr. Buxbaum adds. The Autism Sequencing Consortium, a group of over 25 institutions, was awarded a $7 million grant from the National Institutes of Health to continue analyzing the genomes of thousands of ASD individuals at Mount Sinai.

First look for missing genes in autistic population

Autism, which affects about one percent of the population, is a developmental disorder thought to be caused by a complex interplay between genetic and environmental factors. Although the disorder is highly heritable, the majority of autism cases cannot be attributed to known inherited causes, Dr. Buxbaum says.

While research has indicated that there might be as many as 1,000 genes or genomic regions that contribute to ASD, most studies have looked for either single point mutations -- a change in a single letter of DNA on a gene -- or for large areas of the genome, encompassing many genes, that is altered.

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Genetic analysis of individuals with autism finds gene deletions

Genetics - Watcher of the Skies @ Teatro Coliseo, Bs As, 21/09/13.
Genetics - Watcher of the Skies (Foxtrot, 1972). Teatro Coliseo, Bs As, Argentina. Sábado 21 de Septiembre de 2013. HD Stereo.

By: Gino Zolezzi

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Genetics - Watcher of the Skies @ Teatro Coliseo, Bs As, 21/09/13. - Video

What to grow first?
Finally picked the seeds I will be starting for my first indoor garden. I will be going with TGA #39;s Cheese Quake and a fem OG Kush to give me my sixth plant. ...

By: JS Maine

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What to grow first? - Video

Genetics part 2 nonmendelian inheritance (codominance, polygene, linked gene, sex linkage etc.)
For more information, log on to- http://shomusbiology.weebly.com/ Download the study materials here- http://shomusbiology.weebly.com/bio-materials.html Non-M...

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Genetics part 2 nonmendelian inheritance (codominance, polygene, linked gene, sex linkage etc.) - Video

Genetics - Dancing with the Moonlit Knight @ Teatro Coliseo, Bs As, 21/09/13.
Genetics - Dancing with the Moonlit Knight (Selling England by the Pound, 1973). Teatro Coliseo, Bs As, Argentina. Sábado 21 de Septiembre de 2013. HD Stereo.

By: Gino Zolezzi

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Genetics - Dancing with the Moonlit Knight @ Teatro Coliseo, Bs As, 21/09/13. - Video

Genetics part 3 incomplete dominance and codominance
For more information, log on to- http://shomusbiology.weebly.com/ Download the study materials here- http://shomusbiology.weebly.com/bio-materials.html Incom...

By: Suman Bhattacharjee

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Genetics part 3 incomplete dominance and codominance - Video

Genetics problems 8 duplicate dominant epistasis
For more information, log on to- http://shomusbiology.weebly.com/ Download the study materials here- http://shomusbiology.weebly.com/bio-materials.html Genetics (from Ancient Greek ????????...

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Genetics problems 8 duplicate dominant epistasis - Video