Archive for the ‘Gene Therapy Research’ Category

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) Researchers from Columbia University and Brandeis University plan to use a $2 million grant from the National Institute of Neurological Disorders and Stroke to survey and investigate attitudes about taking genetic tests for epilepsy.

The project, led by principal investigator and Columbia University Professor of Epidemiology Ruth Ottman, will involve in-depth interviews and analysis and clinical genetic testing.

"Genetic testing is rapidly moving into the clinical arena for epilepsy, but we still know very little about the psychosocial impact of genetic information on people with epilepsy and their family members," Ottman told GenomeWeb Daily News today.

"Research in this area is urgently needed because of the significant psychosocial dimensions of living with epilepsy, which include stigma, discrimination, reduced rates of marriage and reproduction, and reduced quality of life," she said. "The ways in which genetic information might alter the experience of living with epilepsy are unclear."

In the first part of the effort, the researchers will survey 1,053 individuals from 115 families containing multiple individuals with epilepsy to evaluate whether they would like to take genetic tests, and what they see as the benefits and downsides of testing, as well as their views on how testing could affect the stigmatization of epilepsy and the quality of their lives.

The researchers also will offer clinical genetic tests to individuals from 21 families containing 195 individuals with an uncommon form of epilepsy called autosomal dominant partial epilepsy with auditory features, or ADPEAF. Half of these families were previously found to have specific gene mutations, but they have never been offered their individual results or the chance to engage in linked discussions about their views.

As part of the study of ADPEAF, in-depth qualitative interviews will also be performed. This part of the research will be led by Sara Shostak, assistant professor in the department of sociology at Brandeis University, which will join in the project under a $200,000 sub-contract. "The intention of the in-depth interviews is to explore, in much greater depth than can be done in a survey, what genetic information actually means in peoples' lives and how they plan to make use of it,", said Shostak in a statement.

In previous research, the investigators found that people are concerned about genetics-related issues when they think about future generations and having families. In addition, they found that people with epilepsy and their families hope that genetic information about the disease could help to lessen stigma and discrimination by influencing public understanding about the disease.

Currently, around 25 genes have been associated with specific epilepsy syndromes.

See the rest here:
Brandeis Leads Study of Attitudes on Genetic Tests for Epilepsy

OMAHA, Neb.--(BUSINESS WIRE)--

Transgenomic, Inc. (OTCBB: TBIO.OB - News) today announced the publication of a new study by researchers at Vanderbilt University that further validates the role of both genes found in the Companys PGxPredict:CLOPIDOGREL (Plavix) Panel, a comprehensive test to predict a patients response to clopidogrel (Plavix). The study confirms the results of two previous studies demonstrating that outcomes in patients receiving clopidogrel were better for patients without genetic variations in CYP2C19, a gene whose effect is described in the drugs label, and ABCB1, a gene that is unique to Transgenomics panel and is covered by issued and pending patents owned by Transgenomic. The results were published by Delaney, et al., in the February issue of Clinical Pharmacology and Therapeutics.

The effectiveness of clopidogrel, the most widely prescribed antiplatelet drug used to reduce the risks of death, stroke, and heart attack in heart disease patients, is dependent on CYP2C19, a gene that codes for an enzyme responsible for metabolizing clopidogrel into its active form. As a result, patients with a dysfunctional variation in CYP2C19 who are treated with clopidogrel exhibit higher cardiovascular event rates than do patients with normal CYP2C19 function. The seriousness of this problem prompted the FDA to add a black box warning to clopidogrels label in 2010 to alert physicians and patients about this risk.

Researchers in the United States and France recently demonstrated that, in addition to CYP2C19, genetic variation in ABCB1 is also predictive of therapeutic outcomes for patients taking clopidogrel, due to the gene products role in transporting clopidogrel into the bloodstream. The Vanderbilt study is now the third independent study demonstrating the value of testing both CYP2C19 and ABCB1 to identify patients at increased risk for death, stroke and heart attack due to ineffective antiplatelet therapy.

A growing number of large, independent studies support the clinical importance of testing for genetic variants in both CYP2C19 and ABCB1 to predict clopidogrel response and establish the appropriate treatment strategy for each patient, said Craig Tuttle, CEO of Transgenomic. There are approximately 6 million new patients prescribed Plavix each year. Approximately 47% will not get the full benefit of the therapy due to genetic variations in either CYP2C19 or ABCB1. The PGxPredict:CLOPIDOGREL Panel is the only panel to test for genetic variations in both CYP2C19 and ABCB1 and represents a potential multi-billion dollar market opportunity for our Clinical Laboratories division.

This publication can be accessed via the following link: http://www.nature.com/clpt/journal/v91/n2/full/clpt2011221a.html

About the PGxPredict:CLOPIDOGREL Panel

The PGxPredict:CLOPIDOGREL Panel analyzes the genes CYP2C19 and ABCB1 to help predict a patients response to clopidogrel (Plavix), a widely used antiplatelet drug. The test results can be used to aid clinicians in developing a treatment plan for their patients being considered for or receiving clopidogrel.

About Transgenomic, Inc.

Transgenomic, Inc. (www.transgenomic.com) is a global biotechnology company advancing personalized medicine in cancer and inherited diseases through its proprietary molecular technologies and world-class clinical and research services. The company has three complementary business divisions: Transgenomic Pharmacogenomic Services is a contract research laboratory that specializes in supporting all phases of pre-clinical and clinical trials for oncology drugs in development. Transgenomic Clinical Laboratories specializes in molecular diagnostics for cardiology, neurology, mitochondrial disorders, and oncology. Transgenomic Diagnostic Tools produces equipment, reagents, and other consumables that empower clinical and research applications in molecular testing and cytogenetics. Transgenomic believes there is significant opportunity for continued growth across all three businesses by leveraging their synergistic capabilities, technologies, and expertise. The company actively develops and acquires new technology and other intellectual property that strengthen its leadership in personalized medicine.

Read the original:
Transgenomic’s Proprietary Clopidogrel (Plavix®) Response Panel Includes Both Genetic Markers Demonstrated to Be ...

An online tool launched by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests.

Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate. To keep pace, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. Such information will include the purpose of each genetic test and its limitations; the name and location of the test provider; whether it is a clinical or research test; what methods are used; and what is measured. GTR will contain no confidential information about people who receive genetic tests or individual test results.

Genetic tests that the Food and Drug Administration has cleared or approved as safe and effective are identified in the GTR. However, most laboratory developed tests currently do not require FDA premarket review. Genetic test providers will be solely responsible for the content and quality of the data they submit to GTR. NIH will not verify the content, but will require submitters to agree to a code of conduct that stipulates that the information they provide is accurate and updated on an annual basis. If submitters do not adhere to this code, NIH can take action, including requiring submitters to correct any inaccuracies or to remove such information from GTR.

In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test's clinical utility, or how likely the test is to improve patient outcomes.

"Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations and laboratories," said Wendy Rubinstein, M.D., Ph.D., director of GTR. "What's more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH."

GTR is built upon data pulled from the laboratory directory of GeneTests, a pioneering NIH-funded resource that will be phased out over the coming year. GTR is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs. GeneReviews, which is the section of GeneTests that contains peer-reviewed, clinical descriptions of more than 500 conditions, is also now available through GTR.

Related Link The free resource, called the Genetic Testing Registry (GTR): http://www.ncbi.nlm.nih.gov/gtr/

See the original post here:
Genetic Testing Registry Goes Online

FREMONT, Calif.--(BUSINESS WIRE)--

SGI (NASDAQ:SGI - News), the trusted leader in technical computing, announced today that Japans National Institute of Genetics, an information and systems research organization located in Mishima, Shizuoka, under the leadership of Director-General Yuji Kohara, has selected an SGI UVTM 1000, the top model in the SGI UV series, for a new supercomputer system. Featuring 768 processor cores 10TB of memory, the system will function as a server for next-generation sequencing data analysis.

As a leading international genetics research laboratory and inter-university research institution in Japan, the National Institute of Genetics builds an international DNA database, develops and provides various search and analysis services, and provides supercomputing resources to researchers throughout Japan and the world. The newly installed SGI UV 1000 will form the backbone of these operations and serve a crucial role in next-generation sequencing data analysis.

The amount of data created by next-generation sequencers is growing exponentially. As the number of sequences that can be readand thus the amount and size of data created at one time by next-generation sequencers multipliesincreasingly powerful computing resources are needed to handle the analytical processing of that data. These data include sequence assembly and mapping. Sequence assembly is the method of aligning and piecing together numerous reads (DNA fragments) to determine a genome sequence. Used when sequencing is performed on an unknown genome sequence, it is also called de novo assembly. Mapping refers to the method of determining a genome sequence by assembling reads against a reference genome whose sequence is already known.

The SGI UV 1000 adopted by the National Institute of Genetics as a pipeline server for next-generation sequencing analysis is a large-scale coherent shared memory server with 768 processor cores powered by Intel Xeon processor E7 family series and 10TB of memory. Certain sequencing data analysis processes, particularly de novo assembly programs, require vast amounts of computer memory, more than distributed parallel clusters can typically offer today. Anticipation at the Institute is growing around the SGI UV 1000 which, as an analysis server for de novo assembly programs, is the worlds only server to date that includes a massive 10TB of shared memory (scalable to 16TB) in a single system.

About SGI

SGI, the trusted leader in technical computing, is focused on helping customers solve their most demanding business and technology challenges. Visit sgi.com for more information.

Connect with SGI on Twitter (@sgi_corp), YouTube (youtube.com/sgicorp), and LinkedIn.

2012 Silicon Graphics International Corp. All rights reserved. SGI, the SGI logo and UV are trademarks or registered trademarks of Silicon Graphics International Corp. or its subsidiaries in the United States and/or other countries. Intel and Xeon are registered trademarks of Intel Corporation. All other trademarks are property of their respective holders.

Read more from the original source:
National Institute of Genetics Adopts SGI HPC Solution for New Supercomputer System

Updated: Thu Mar. 01 2012 18:08:34

ctvwinnipeg.ca

When a person suffers a heart attack, the time it takes to get treatment is crucial. That's because once heart muscle tissue is damaged, it can't be healed.

A researcher from St. Boniface Hospital, however, has found a gene that could bring damaged heart tissue back to life.

"The cells that make up the heart muscle itself - once they're damaged or injured they're not replaced by new ones," said Dr. Lorrie Kirshenbaum, a researcher at St. Boniface Hospital.

Researchers had little success locating a key gene.

"This gene we've been chasing for about 12 years," said Kirshenbaum.

But now they've found it.

"For us, it was initially disbelief," he said.

Kirshenbaum is now working on a way to use gene therapy so that when a person suffers a heart attack, they won't suffer lasting damage to the heart.

Read the original:
Winnipeg researcher's gene discovery could help healing damage caused by heart attacks

Lafayette College theater director Michael O'Neill has never seen the classic Czech play "R.U.R," but after teaching it in his theater classes for years, he became intrigued by the relevance of its premise.

So after reading many translations of the play about robots and a mechanized world where people show no emotions, O'Neill decided to write his own translation and produce it at the college. The play opened Wednesday and continues through Saturday at the Williams arts center.

"I made a lot of cuts," O'Neill says. "In those days, they tended to be awfully talky."

"R.U.R." or "Rossum's Universal Robots" was written in 1920 by Karel Capek. It was a response to the death and destruction he had witnessed during World War I and the emotional dislocation and upheavals of the 1917 Communist revolution in Russia.

The play was written as an expressionistic journey into genetic engineering on a mass scale, O'Neill says. It predicted a mechanized world where people have no emotional connections and where workers have lost their human rights. The play takes place in a factory that makes Robots that can think for themselves and can be mistaken for humans.

"I thought that the play had a lot to say about today and our interest in human cloning and our dependence on technology," O'Neill says. "I was concerned about our growing dependence on our cell phones and our computers and the increasing mechanization of everyday life. I also thought that that this play was particularly relevant to Lafayette, which has such a big engineering program."

The play was the first to introduce the word robot to the English language.

"Actually the word robot means 'worker' in Czech, and the Robots in our production look less like Hollywood robots than Soviet workers from the 1920s," O'Neill says. Costume designer Locklyn Brooks has created gray and monochrome outfits that make the Robots look less like machines and more like people, he says.

O'Neill says the play is not so much science fiction as a social satire with a utopian vision.

"This is actually a very traditional play, and despite the presence of the Robots, its main theme is that the human race needs love to be able to survive," he says.

See original here:
Lafayette's 'R.U.R' deals with robots, role of technology

The Collaborative Cross, a project that aims to duplicate the diversity of human genetics in a lab mouse population, is currently focused in North Carolina.

Genetics play an important role in the most common diseases. As humans cannot be tested genetically in a lab environment, the Collaborative Cross is developing a strain of human genetics in mice. The goal is to ultimately fast-track important discoveries about genetics and disease into tests and treatments that will impact human health.

After a series of 15 essays were published in the Genetics Society of America, the Collaborative Cross set up at UNC Chapel Hill.

The project is led by Fernando Pardo-Manuel de Villenaof the UNCdepartment of genetics, David Threadgill, a geneticist at North Carolina State University, and Gary Churchill of the Jackson Laboratory. The mice are being housed at UNC Chapel Hill.

Villena wrote one of the papers featured in Genetics. His paper provides the first comprehensive description of the mouse genome library.

The Collaborative Cross is a free resource for all scientists.

In a press release from UNC Health Care, Terry Magnuson, chair of genetics at UNC Chapel Hill and vice dean for research at the UNC School of Medicine, said, "Just as a museum curator is responsible for the heritage of art in their facility, our colleagues at UNC and NC State University are responsible for the heritage of the mice in the Collaborative Cross. As scientists use this resource to find ways to prevent and address the genetic changes that cause disease, findings in laboratory experiments should be much easier to translate to humans."

The Collaborative Cross project is also being used for studies on breast cancer.

Dr. Norman E. Sharpless, UNC Lineberger's associate director for translation research, said in a press release from UNC Health Care, "I expect that the results of this work will help human breast cancer patients. Huge consortia are successfully identifying regions of the genome associated with important human diseases like cancer and diabetes, but there are limitations in working with the human genome. The Collaborative Cross provides the best means to understand why certain genes are linked to certain diseases."

Read more:
Genetics study focused in North Carolina

29-02-2012 10:12 I am a senior undergraduate student majoring in biotechnology. Although I am an undergraduate, I am quite familiar with the works of life science, especially on biochemistry and molecular biology with my undergraduate GPA is 3.81. I have undertaken various and relevant work experience, in both Cooperative Demonstration Laboratory of Centrifuge Technique and Beckman Coulter Ltd. Co., Nanjing Agricultural University. My commitment to research has earned me co-authorship of five papers published, and two manuscripts in preparation. I have also assist my professor to translate the book Cytology and Genetics. This video introduces my research area and my social works, brief and interesting. I think you will like it. Now I am applying the scholarship administered by the Chinese Scholarship Council which will cover my most expenses. Hopefully one day, I will be your student, work with you together on our shared dream and please feel free to write or call me. fjfnjau@foxmail.com; fjfnjau@gmail.com.

Read the original post:
Research Proposal on life science by Jianfei Feng (Hoping to pursue the possible PhD position).mp4 - Video

SAN FRANCISCO -- San Francisco Zoo officials are mourning the death of "Gene," a 41-year-old black rhinoceros who's been a popular figure at the zoo since 1978.

Zoo officials, who described Gene as gentle and friendly, said he died of kidney failure on Monday.

The zoo's animal care and veterinary staff had been keeping an eye on Gene because his appetite had dropped and he was lethargic, according to zoo officials.

After a recent blood sample indicated that Gene had kidney failure, zoo staff focused on keeping him comfortable for the remainder of his life.

Gene was named after the late Eugene Friend, who served on the Recreation and Park Commission for 24 years, zoo officials said.

Gene was born in Kenya and came to the San Francisco Zoo in 1978 at the age of seven.

During his time at the zoo, Gene fathered five offspring, three of which are now living at other accredited zoos, zoo officials said.

Gene's animal keeper, Julie McGilvray, said he had a good disposition and was very friendly.

"We nicknamed him Big Dog because he loved to be rubbed, either by hand or with a scrub brush, and oftentimes he would lie down and absorb the soothing experience," McGilvray said in a statement.

Zoo officials said black rhinos are a critically endangered species because they are targeted by poachers who covet their valuable horns.

Originally posted here:
41-year-old black rhino 'Gene' dies of kidney failure

Celltex hosts the largest stem-cell bank in the United States.

TYLER RUDICK

With Texas pouring millions of dollars into developing adult stem-cell treatments, doctors there are already injecting paying customers with unproven preparations, supplied by an ambitious new company.

The US Food and Drug Administration (FDA) has not approved any such stem-cell treatment for routine clinical use, although it does sanction them for patients enrolled in registered clinical trials. Some advocates of the treatments argue, however, that preparations based on a patient's own cells should not be classed as drugs, and should not therefore fall under the FDA's jurisdiction.

There are certainly plenty of people eager to have the treatments. Texas governor Rick Perry, for instance, has had stem-cell injections to treat a back complaint1, and has supported legislation to help create banks to store patients' harvested stem cells.

One company that has benefited from this buoyant climate is Celltex Therapeutics, which multiplies and banks stem cells derived from people's abdominal fat, according to chairman and chief executive David Eller. Its facility in Sugar Land, just outside Houston, opened in December 2011 and houses the largest stem-cell bank in the United States.

Celltex was founded by Eller and Stanley Jones, the orthopaedic surgeon who performed Perry's procedure, and it uses technology licensed from RNL Bio in Seoul. Because clinical use of adult-stem-cell treatments are illegal in South Korea, RNL has since 2006 sent more than 10,000 patients to clinics in Japan and China to receive injections.

Celltex says that although it processes and banks cells, it does not carry out stem-cell injections. It declined to answer Nature's questions about whether its cells have been used in patients. But there is evidence that the company is involved in the clinical use of the cells on US soil, which the FDA has viewed as illegal in other cases.

In addition to the publicity surrounding Perry's treatment, a woman named Debbie Bertrand has been blogging about her experiences during a five-injection treatment with cells prepared at Celltex. Her blog (http://debbiebertrand.blogspot.com) hosts photographs of herself alongside Jones; Jennifer Novak, a Celltex nurse; Jeong Chan Ra, chief executive of RNL Bio; and her doctor, Jamshid Lotfi, a neurologist who works for the United Neurology clinic in Houston. Another photo is captioned: My cells are being processed in here for my next infusion!!! A third shows Bertrand, Lotfi and a physician called Matthew Daneshmand, who is, according to the caption, injecting Bertrand's stem cells into an intravenous drip, ready for the infusion. Nature has been unable to contact Bertrand.

Lotfi says that he has administered cells processed by Celltex to more than 20 people. Five or six including Bertrand have multiple sclerosis and four or five have Parkinson's disease, he says. Lotfi explains that patients sign up for treatment by contacting Novak, and that cells are prepared by removing about five grams of fat containing roughly 100,000 mesenchymal stem cells from the patient's abdomen. Over a three-week period, the cells are cultured until they reach about 800 million cells. Lotfi says that patients get at least three injections of 200 million cells each, and that the cells do not take effect for a few months. According to Lotfi, Celltex charges US$7,000 per 200 million cells, and pays Lotfi $500 per injection.

See the rest here:
Stem-cell therapy takes off in Texas

ScienceDaily (Feb. 29, 2012) MIT neuroscientists have shown that an enzyme overproduced in the brains of Alzheimer's patients creates a blockade that shuts off genes necessary to form new memories. Furthermore, by inhibiting that enzyme in mice, the researchers were able to reverse Alzheimer's symptoms.

The finding suggests that drugs targeting the enzyme, known as HDAC2, could be a promising new approach to treating the disease, which affects 5.4 million Americans. The number of Alzheimer's victims worldwide is expected to double every 20 years, and President Barack Obama recently set a target date of 2025 to find an effective treatment.

Li-Huei Tsai, leader of the research team, says that HDAC2 inhibitors could help achieve that goal, though it would likely take at least 10 years to develop and test such drugs.

"I would really strongly advocate for an active program to develop agents that can contain HDAC2 activity," says Tsai, director of the Picower Institute for Learning and Memory at MIT. "The disease is so devastating and affects so many people, so I would encourage more people to think about this."

Tsai and her colleagues report the findings in the Feb. 29 online edition of Nature. Lead author of the paper is Johannes Grff, a postdoc at the Picower Institute.

Genome modification

Histone deacetylases (HDACs) are a family of 11 enzymes that control gene regulation by modifying histones -- proteins around which DNA is spooled, forming a structure called chromatin. When HDACs alter a histone through a process called deacetylation, chromatin becomes more tightly packaged, making genes in that region less likely to be expressed.

HDAC inhibitors can reverse this effect, opening up the DNA and allowing it to be transcribed.

In previous studies, Tsai had shown that HDAC2 is a key regulator of learning and memory. In the new study, her team discovered that inhibiting HDAC2 can reverse Alzheimer's symptoms in mice.

The researchers found that in mice with Alzheimer's symptoms, HDAC2 (but not other HDACs) is overly abundant in the hippocampus, where new memories are formed. HDAC2 was most commonly found clinging to genes involved in synaptic plasticity -- the brain's ability to strengthen and weaken connections between neurons in response to new information, which is critical to forming memories. In the affected mice, those genes also had much lower levels of acetylation and expression.

See the original post:
Reversing Alzheimer's gene 'blockade' can restore memory, other cognitive functions

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/30dc32/the_ah_receptor_in) has announced the addition of John Wiley and Sons Ltd's new book "The AH Receptor in Biology and Toxicology" to their offering.

This book provides a thorough and up-to-date overview of the aryl hydrocarbon receptor (AHR) and its unique dual role in toxicology and biology. The coverage includes epigenetic mechanisms, gene expression, reproductive and developmental toxicity, signal transduction, and transgenic animal models. Featuring an internationally recognized team of authors at the forefront of AHR research, this resource provides a comprehensive reference for readers interested in understanding the full spectrum of AHR, from basic concepts, toxicology analysis, and models to polymorphism and related diseases.

Key Topics Covered:

AHR as a ligand-activated transcription factor.

AHR as a mediator of xenobiotic toxicities: dioxins as a key example.

AHR as a physiological regulator.

Author: Raimo Pohjanvirta.

For more information visit http://www.researchandmarkets.com/research/30dc32/the_ah_receptor_in

The rest is here:
Research and Markets: The AH Receptor in Biology and Toxicology

SAN FRANCISCO --San Francisco zoo officials are mourning the death of "Gene," a 41-year-old black rhinoceros who's been a popular figure at the zoo since 1978.

Zoo officials, who described Gene as gentle and friendly, said he died of kidney failure on Monday.

The zoo's animal care and veterinary staff had been keeping an eye on Gene because his appetite had dropped and he was lethargic, according to zoo officials.

After a recent blood sample indicated that Gene had kidney failure, zoo staff focused on keeping him comfortable for the remainder of his life.

Gene was named after the late Eugene Friend, who served on the Recreation and Park Commission for 24 years, zoo officials said.

Gene was born in Kenya and came to the San Francisco Zoo in 1978 at the age of seven.

During his time at the zoo, Gene fathered five offspring, three of which are now living at other accredited zoos, zoo officials said.

Gene's animal keeper, Julie McGilvray, said he had a good disposition and was very friendly.

"We nicknamed him Big Dog because he loved to be rubbed, either by hand or with a scrub brush, and oftentimes he would lie down and absorb the soothing experience," McGilvray said in a statement.

Zoo officials said black rhinos are a critically endangered species because they are targeted by poachers who covet their valuable horns.

See the original post here:
San Francisco: 41-year-old black rhino 'Gene' dies zoo

Public release date: 29-Feb-2012 [ | E-mail | Share ]

Contact: Cathia Falvey cfalvey@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle -- Inhaled interferon-gamma may be an effective treatment for idiopathic pulmonary fibrosis (IPF), a chronic and progressive form of lung disease caused by excessive formation of fibrotic, or scar tissue, in the lungs, according to an article published in Journal of Aerosol Medicine and Pulmonary Drug Delivery (http://www.liebertpub.com/jamp), a peer-reviewed journal from Mary Ann Liebert, Inc. (http://www.liebertpub.com) The article on inhaled interferon-gamma (http://online.liebertpub.com/doi/abs/10.1089/jamp.2011.0919) is available free online at the Journal of Aerosol Medicine and Pulmonary Drug Delivery website.

Normally, systemic delivery of interferon-gamma can cause substantial side effects; however, delivery of aerosolized interferon-gamma directly into the lungs was shown to be safe and was associated with significantly reduced levels of profibrotic regulatory proteins. Keith Diaz, MD, Shibu Skaria, MD, Keith Harris, MD, Mario Solomita, DO, Stephanie Lau, MD, Kristy Bauer, MD, Gerald Smaldone, MD, PhD, and Rany Condos, MD, State University of New York, Stony Brook and New York University School of Medicine, NYC, show that inhalation of interferon-gamma in aerosol form three times a week for at least 80 weeks was well-tolerated by patients, with no systemic side effects.

The authors verified the presence of the drug in the material collected on lung washes and documented no change in the level of interferon-gamma in the blood during the treatment period. The report shows the results of pulmonary function tests, including forced vital capacity (FVC) and total lung capacity (TLC), and the effects of treatment on a six-minute walk test in the article entitled "Delivery and Safety of Inhaled Interferon-gamma in Idiopathic Pulmonary Fibrosis." (http://online.liebertpub.com/doi/abs/10.1089/jamp.2011.0919)

"There is no treatment for Idiopathic Pulmonary Fibrosis, a disease usually fatal within 3-5 years," says Gerald C. Smaldone, MD, PhD, Editor-in-Chief of the Journal and a coauthor of this article, and Professor and Chief, Division of Pulmonary and Critical Care Medicine at SUNY-Stony Brook. "The scientific community expected the injected form of interferon-gamma to help, but those studies failed. We have shown that inhaled interferon is safe with very high levels in the lungs. Now is the time to repeat the clinical trials with the inhaled form of this therapy."

###

About the Journal

Journal of Aerosol Medicine and Pulmonary Drug Delivery (http://www.liebertpub.com/jamp) is an authoritative peer-reviewed journal published bimonthly in print and online. It is the Official Publication of the International Society for Aerosols in Medicine (www.isam.org). The Journal is the only authoritative publication delivering innovative articles on the health effects of inhaled aerosols and delivery of drugs through the pulmonary system. Topics covered include airway reactivity and asthma treatment, inhalation of particles and gases in the respiratory tract, toxic effects of inhaled agents, and aerosols as tools for studying basic physiologic phenomena. Complete tables of content and a sample issue may be viewed on the Journal of Aerosol Medicine and Pulmonary Drug Delivery (http://www.liebertpub.com/jamp) website.

About the Company

Read the original here:
New treatment using inhaled interferon may improve lung function in pulmonary fibrosis

PORT ST. LUCIE, Fla. -- A $120 million complex is putting Port St. Lucie on the map as a bio-tech hub.

Vaccine and Gene Therapy Institute of Florida, or VGTI, is finally in their new home.The grand opening ceremony was held Wednesday and attracted hundreds of local and state leaders who made the center for innovation a reality.

The state and the city of Port St. Lucie gave $120 million in incentives to attract VGTI, right next to the other bio-tech giant, Torrey Pines Molecular Research Institute.

VGTI, while perhaps not well-known in the public, in the international medical field is showing the most promising research to treat cancer, and even cure HIV.

"For HIV, it's hard to predict when we will find the cure, but we are moving as fast as we can and we're getting closer," said Dr. Jay Nelson, VP of VTGI.

Researchers are giving local people access to clinical trials for HIV and Hepatitis C.So far VGTI is the only researcher showing positive results with an HIV Vaccine.

The research complex will create 200 jobs and attract researchers from around the world.They currently are hiring 125 positions in research and science and promise more positions will be created as the development out here will come.

Visit link:
Vaccine & Gene Therapy Institute opens in Port St. Lucie

Image: Erinn Muller/Mote Marine Laboratory

Editor's note: Climate Query is a semi-weekly feature offered by Daily Climate, presenting short Q&A's with players large and small in the climate arena. Read others in the series at http://wwwp.dailyclimate.org/tdc-newsroom/query/climate-queries.

Kim Ritchie fell into coral research as an undergraduate, got a Ph.D. in genetics and was doing post-doctoral research in Panama when she lost her funding. With the ideal training for biotech, however, she slipped right into a startup. But when the company went bankrupt, she jumped back into research.

Today she manages the microbiology program at Mote Marine Laboratory in Sarasota, Fla., a nonprofit research center dedicated to studying marine and estuarine ecosystems. Ritchie is taking a novel approach to reviving stressed coral reefs, looking at the role bacteria can play in coral health. She is tinkering with gene therapy primarily DNA swapping to restore coral reefs by fostering beneficial bacterial growth.

Ritchie earned her doctorate in genetics from University of North Carolina, Chapel Hill, and did post-doctoral research at the Smithsonian Tropical Research Foundation in Panama. Ritchie has two grown daughters Emily and Jillian two cats and two dogs, loves watersports and enjoys cooking Mediterranean food in her spare time.

Why are reefs important? Many reasons. They are storm breaks, essentially. They're also habitat to many commercially important species and fisheries. Coral reefs, while they make up a small percentage of the oceans, harbor a diverse assemblage of organisms.

Coral reefs face at least three threats pollution, overfishing and climate change. What has had the most impact? All three have had an effect but climate change, with its increasing temperatures and changing ocean pH, is the most detrimental because it is most closely linked with coral disease and death worldwide.

There are signs out of Australia that corals are tougher than expected. How do we know coral reefs won't just adapt? Its not surprising and it is hopeful. There are subpopulations that dont die off. Perhaps they can reseed the coral reefs and everything becomes more resilient.

Australians are also freezing polyps and coral embryos in the hopes of recreating the Great Barrier Reef in some future era.

If the things they are saving arent resistant to whatever the change is, that might not be a good solution.

Read this article:
Gene Therapy Could Help Corals Survive Climate Change

Allegheny-Kiski Health Foundation will present "Stem-Cell Therapy: Defeating the Aging Process" from 6 to 8 p.m. March 13 in the William & Grayce Walker conference Room at Allegheny-Kiski Health Foundation, Charles and Mary Lou Young Non-Profit Center, 1 Acee Drive, Natrona Heights.

Guest speaker will be Dr. Valerie Donaldson of the Individualized Advanced Medical Center of Pittsburgh. She is active in destressing the body and focusing on the anti-aging process.

Donaldson completed her undergraduate education at Colorado College where she earned a bachelor's degree in biology and obtained her doctorate at Rush Medical College in Chicago.

Registration is requested. Call 724-294-3157. Admission is free.

The seminar is sponsored through the Dr. H.W. Fraley Health and Wellness Fund.

Programs set at Destination Wellness

Upcoming programs at Allegheny Valley Hospital's Destination Wellness at Pittsburgh Mills, Frazer, include:

Pittsburgh North Restless Legs Syndrome Support Group will meet from 6:15 to 7:45 p.m. Dr. Avinash Aggarwal will discuss "Is it RLS or Something Else?" To register, call Destination Wellness at 724-274-5202.

Heartsaver First Aid, part one will be from 9 a.m. to noon March 10 and is the basic first-aid course. A two-year certification card will be given after completion of skills and written testing. Fee is $35 per part and includes a required student manual. Call 724-274-5202 to register. Space is limited to eight participants.

Heartsaver AED/CPR, part two will be from 1 to 4 p.m. March 10 and includes adult, child and infant CPR and automated external defibrillator use. A two-year certification card will be given after completion of skills and written testing. Fee is $35 per part and includes required student manual. Call 724-274-5202 to register. Space is limited to eight participants.

Read more here:
Program looks at stem-cell therapy to defeat aging

Florida-Based Biotech Cluster Now One of The Fastest Growing Immunology Research Hubs

Tradition, FL (PRWEB) February 29, 2012

As a pioneer in translating scientific discoveries into the clinic, VGTI Florida brings a wealth of knowledge and prestige to TCIs rapidly expanding biocluster. The facility, which is mainly composed of scientific space, resides next to the Torrey Pines Institute for Molecular Studies. Together, the two anchor members have collaborated efforts to take their discoveries from the bench to bedside with the help of fellow anchor member, Martin Health Systems nationally recognized clinical program.

Having the opportunity to expand our portfolio and work alongside leading institutes, such as Torrey Pines, solidified our decision to expand to Florida and house our new facility at TCI, said VGTI CEO, Mel Rothberg. We are thankful for the support from our fellow anchor members at TCI and the city of Port St. Lucie and look forward to being a part of the community.

Since TCIs first anchor member, the Torrey Pines Institute for Molecular Studies, expanded its San Diegobased facility to Tradition in 2006, TCI has brought an estimated 170 new jobs to the community and created an estimated 1,000 construction jobs. In addition, business service companies that provide life science products such as cylinder gas, biological reagents, gowning, IT, office furniture, scientific equipment and others, have all seen tremendous increases in sales.

Each and every one of TCIs anchor members have played a pivotal role in the development of this park, said Andrew Favata, Vice President of Mann Research Center. The opening of VGTIs Florida facility further demonstrates TCIs position as one of the only bioclusters focused on translating immunology and cancer research.

TCIs anchor members include, the Torrey Pines Institute for Molecular Studies, VGTI Florida, Mann Research Center and Martin Health System, which is set to brake ground on its 82-bed acute care and clinical trials hospital on March 14. Construction on Mann Research Centers 60,000 square foot medical office facility will begin in August 2012.

About Tradition Center for Innovation

Located in the heart of Florida's Research Coast, the Tradition Center for Innovation (TCI) at Tradition in Port St. Lucie is a 150-acre research park featuring a fast-growing roster of innovative, world-class biotech, life science, and research organizations. For more information, visit http://www.tciflorida.com and http://www.twitter.com/tciflorida

About VGTI Florida

The rest is here:
VGTI Florida Opens 100,000 Square Foot Facility at The Tradition Center for Innovation

MOUNTAIN VIEW, Calif., Feb. 29, 2012 (GLOBE NEWSWIRE) -- Complete Genomics Inc. (Nasdaq:GNOM - News), the whole human genome sequencing company, today announced the formation of its Genomic Medicine Advisory Board (GMAB). The GMAB will provide insight and guidance on the best ways for the company to provide sequencing services to healthcare organizations and physicians interested in implementing genomic medicine in their practice.

Inaugural board members include distinguished physicians and scientists. Robert Nussbaum, MD, Holly Smith Professor of Medicine, chief of the Division of Medical Genetics in the Department of Medicine, and director of the Cancer Risk and Cardiovascular Genetics Programs at the University of California, San Francisco, will serve as GMAB chairman.

"There are a number of major challenges to deploying whole genome sequencing in the clinic," said Dr. Nussbaum. "The Complete Genomics GMAB is a wonderful opportunity to assemble thought leaders in genomic medicine to begin to define the 'clinical genome' and how to make it most useful and accessible to clinicians, establish technical and ethical standards, and address some of the regulatory and reimbursement obstacles that exist in this rapidly-evolving field. Complete Genomics is committed to doing this right."

Founding members of the Complete Genomics GMAB include the following:

"Whole genome sequencing data will be used by physicians to make treatment decisions for their patients. We're working hard to make sure we can provide them with the information they need in the most accessible and actionable format," said Complete Genomics Chairman, President and CEO Dr. Clifford Reid. "A key step for us is putting together an advisory board like this that includes leaders and visionaries in medical genetics, clinical pathology, oncology, pediatrics, clinical laboratory science, health information technology, healthcare delivery, ethics, and regulatory and reimbursement policy."

The GMAB plans to meet annually to discuss scientific and policy issues and provide feedback on the company's ongoing projects and advice on future direction.

About Complete Genomics

Complete Genomics is the whole human genome sequencing company that has developed and commercialized an innovative DNA sequencing platform. The Complete Genomics Analysis Platform (CGA(TM) Platform) combines Complete Genomics' proprietary human genome sequencing technology with advanced informatics and data management software. Additional information can be found at http://www.completegenomics.com.

The Complete Genomics logo is available at http://www.globenewswire.com/newsroom/prs/?pkgid=8216

Forward-Looking Statements

View post:
Complete Genomics Announces Formation of Genomic Medicine Advisory Board

Nashville, TN (PRWEB) February 29, 2012

Centerstone, the nation's largest provider of community-based behavioral healthcare, and Genomind, a company focused on neuropsychiatric personalized medicine, today announced that they have begun a pilot study examining the use of a proprietary genetic test in assisting clinicians with treatment selections for patients with major depressive disorder. The test, the Genecept Assay, analyzes 20 genetic variants in 10 different genes that can provide information regarding how a patient will respond to antidepressant medications.

For decades, psychiatrists have looked for clues in the clinical symptomatology of depressed patients to help us select the antidepressant that is most likely to be effective, said Karen Rhea, MD, Chief Medical Officer for Centerstone. But matching an individual to one of the many antidepressants available based on symptoms alone can be difficult. In fact, research has shown that many of the antidepressants on the market work on only about half of the people who try them. Recently discovered genetic links to drug response holds great potential in helping us to better match individuals to the right antidepressants for them. Centerstone is so excited to partner with Genomind on this study and to be at the cutting-edge interface between psychiatry and personalized medicine.

The Centerstone and Genomind study will involve 200 outpatient adults in Tennessee who have depression. Half of the participants will have their treatment guided by the Genecept Assay, and half will receive treatment as usual. The study will compare improvement in depressive symptoms among both groups over a 6-month period as well as examine secondary endpoints including changes in clinician behavior and decreases in treatment costs. For further information about other studies involving the Genecept Assay, see ClinicalTrials.gov (http://clinicaltrials.gov/ct2/results?term=page-1).

We are pleased to partner with Centerstone, a leader who shares our vision of bringing the best of science to patients suffering from mental illness, said Ronald I. Dozoretz, MD, Chairman and Co-Founder, Genomind. Studies and data collection are essential to helping the mental health profession transform scientific discovery into clinical practice with the patient in mind.

The Genecept Assay is simple and saliva-based. The treating clinician receives an analytic report within several days and can also take advantage of psychopharmacology expertise from Genomind.

David Ayer, Ph.D., Director of Clinical Research for Centerstone Research Institute, will serve as the principal investigator of the Tennessee pilot study. Recruitment for the study is underway.

About Genomind: Genomind is a company specializing in neuropsychiatric personalized medicine and was formed to facilitate the adoption of personalized medicine into psychiatry by providing genetic information for clinicians to better understand the patient. Genomind was founded by Ronald I. Dozoretz, MD, a psychiatrist who has devoted his career to improving mental health and bringing innovations in science, delivery, and access to mental health patients. Jay Lombard, DO, a neurologist, is co-founder of Genomind and is a critically acclaimed author and nationally recognized thought leader in neuropsychiatry practice and research. Learn more at http://www.genomind.com.

About Centerstone: Centerstone, a not-for-profit organization, is the nation's largest provider of community-based behavioral healthcare. It provides a full range of mental health, addiction and related educational services to more than 75,000 individuals of all ages each year. The organization has nearly 130 facilities and 220 partnership locations throughout Indiana and Tennessee. It also operates the Centerstone Foundation, the Centerstone Research Institute (CRI), which is improving mental healthcare through innovative research and information technology, and Advantage Behavioral Health, a behavioral health administrative management organization. For more information about Centerstone, please visit http://www.centerstone.org.

###

Read the original post:
Centerstone And Genomind Begin New Study On Genetic Test For Patients With Major Depressive Disorder

Embargoed for Release Wednesday, February 29, 2012 9 a.m. EST

An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at http://www.ncbi.nlm.nih.gov/gtr/.

"Im delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," said NIH Director Francis S. Collins, M.D., Ph.D., who unveiled GTR at NIH's observance of international Rare Disease Day. "This registry will help a lot of people from health care professionals looking for answers to their patients diseases to researchers seeking to identify gaps in scientific knowledge."

Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate. To keep pace, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. Such information will include the purpose of each genetic test and its limitations; the name and location of the test provider; whether it is a clinical or research test; what methods are used; and what is measured. GTR will contain no confidential information about people who receive genetic tests or individual test results.

Genetic tests that the Food and Drug Administration has cleared or approved as safe and effective are identified in the GTR. However, most laboratory developed tests currently do not require FDA premarket review. Genetic test providers will be solely responsible for the content and quality of the data they submit to GTR. NIH will not verify the content, but will require submitters to agree to a code of conduct that stipulates that the information they provide is accurate and updated on an annual basis. If submitters do not adhere to this code, NIH can take action, including requiring submitters to correct any inaccuracies or to remove such information from GTR.

In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the tests clinical utility, or how likely the test is to improve patient outcomes.

"Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations and laboratories," said Wendy Rubinstein, M.D., Ph.D., director of GTR. "What's more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH."

GTR is built upon data pulled from the laboratory directory of GeneTests, a pioneering NIH-funded resource that will be phased out over the coming year. GTR is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs. GeneReviews, which is the section of GeneTests that contains peer-reviewed, clinical descriptions of more than 500 conditions, is also now available through GTR.

The GTR database was developed by the National Center for Biotechnology Information (NCBI), part of NIHs National Library of Medicine, under the oversight of the NIH Office of the Director and with extensive input from researchers, testing labs, health care providers, patients and other stakeholders. To view video tutorials on how to use GTR, go to http://www.youtube.com/playlist?list=PL1C4A2AFF811F6F0B.

The Office of the Director, the central office at NIH, is responsible for setting policy for NIH, which includes 27 Institutes and Centers. This involves planning, managing, and coordinating the programs and activities of all NIH components. The Office of the Director also includes program offices which are responsible for stimulating specific areas of research throughout NIH. Additional information is available at http://www.nih.gov/icd/od/.

See the original post here:
Confused by genetic tests? NIH’s new online tool may help

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) The National Institutes of Health has launched a new web resource aimed at providing consumers and healthcare providers with information about all of the genetic tests that are currently on the market.

The Genetic Testing Registry, unveiled today international Rare Disease Day was developed to serve as an encyclopedia of the genetic tests that currently exist for around 2,500 genetic diseases, one which will be updated as new tests and applications come on the market.

The goal was to create a resource that would help healthcare providers and consumers sort through information about the available tests, because most do not require premarket review by the US Food and Drug Administration.

The GTR entries will cover information on the purpose of the test, its limitations, the name and location of the providers, whether it is for clinical or research use, what methods are used, and how the results are measured. NIH will not verify the content of the entries provided by the testing providers, but it will require that they agree to a code of conduct for accuracy that will enable NIH to require submitters to correct inaccuracies or to remove such information from the resource.

On top of the basic information, the voluntary GTR will provide details about a test's analytic validity, clinical validity, and clinical utility.

"I'm delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," NIH Director Francis Collins said in a statement.

"This registry will help a lot of people from healthcare professionals looking for answers to their patients' diseases to researchers seeking to identify gaps in scientific knowledge."

"Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations, and laboratories," said GTR Director Wendy Rubinstein. "What's more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH."

The registry was developed by the National Center for Biotechnology Information, with input from a range of stakeholders, including testing labs, healthcare providers, patients, and researchers, through a public comment period and public meetings.

See the article here:
NIH Launches Genetic Testing Registry

Public release date: 28-Feb-2012 [ | E-mail | Share ]

Contact: Jim Barlow jebarlow@uoregon.edu 541-346-3481 University of Oregon

EUGENE, Ore. -- (Feb. 29, 2012) -- A rare and endangered monkey in an African equatorial rainforest is providing a look into our climatic future through its DNA. Its genes show that wild drills (Mandrillus leucophaeus), already an overhunted species, may see a dramatic population decline if the forest dries out and vegetation becomes sparser amid warming temperatures, researchers report.

Looking for clues amid 2,076 base pairs of mitochondrial DNA -- genes passed down along female lineages -- researchers discovered genetic signs that coincide with the conditions that mirror current climate projections for the equator around the globe in the next 100 years. Also examined were the region's fossil and pollen records.

"The drills went through a large population collapse -- as much as 15-fold," said Nelson Ting, a professor of anthropology at the University of Oregon. Ting is the lead author of a study placed online ahead of regular publication in the journal Ecology and Evolution. "This occurred sometime around the mid-Holocene, which was about 3,000 to 5,000 years ago."

Ting and 10 other researchers -- representing institutions in the United States, United Kingdom, Nigeria and Germany -- gathered feces of drills in the Cross-Sanaga-Bioko Coastal forests that stretch across portions of Nigeria, Bioko Island (Equatorial Guinea) and Cameroon. The extracted DNA provided the first genetic information from this species, which is found only in that region.

The species also is struggling for survival because of poaching and by habitat loss due to logging and cultivation activities. Drill meat also is a valued food; hunters often shoot them en masse. Protecting drill populations was the top priority of the African Primate Conservation Action Plan developed in 1996 by the International Union for Conservation of Nature. Despite the designation, Ting said, "hunting continues and is the much more immediate danger facing the drill."

The base pairs examined came from 54 samples of DNA. Base pairs are made up of adenine, thymine, guanine and cytosine. While DNA is the blueprint for life, examining the sequences of these chemicals also provides a roadmap into any organism's past. "Looking at its modern genetic diversity, you can infer changes in past population size," Ting said.

In the mid-Holocene, temperatures across equatorial Africa were hotter and dryer, with a reduction of forest cover that the drill need for survival. The ecology of the region also includes multiple other species found only there. The research, Ting said, is among emerging work focusing on past climate conditions in equatorial areas. Many studies have been done on conditions in both temperate and arctic regions.

The findings carry conservation implications, Ting said. "We could see many of these equatorial forests becoming very arid. Forest will be lost as vegetation changes to adapt to dryer conditions. Our findings show that this type of animal, which already is very much endangered because of hunters, would not be able to deal with the level of climate changes that could be coming."

Continued here:
Genetics of endangered African monkey suggest troubles from warming climate

ALISO VIEJO, Calif. & BALTIMORE--(BUSINESS WIRE)--

Ambry Genetics, a global leader in genetic services with a focus on clinical diagnostics and genomics, announces specific results from one of three recent diagnoses using its proprietary new Clinical Diagnostic Exome. Four individuals with rare genetic conditions for which the cause could not previously be identified were successfully diagnosed, three at Kennedy Krieger Institute in Baltimore and one at a large, Ivy League-affiliated university hospital in New York City.

One of the cases at Kennedy Krieger Institute involves two brothers, ages 22 and 24, with profound intellectual disability and autism. The actual cause of their condition was unknown for over 20 years. Ambry Genetics Clinical Diagnostic Exome test revealed that their condition is a form of autosomal recessive intellectual disability precisely caused by mutations in the ELP2 gene. Because this gene was only recently discovered and routine testing was not available, this diagnosis would have been impossible to identify without exome sequencing.

The majority of genetic diseases are caused by mutations located in the exons, which are the regions of genes that code for protein. Exons make up about 1.5% of the genome, which in total consists of over 20,000 genes. Traditional genetic testing analyzes only one or a few specific genes at a time. In contrast, exome sequencing is a much broader test targeting the exons of nearly all genes. Ambry Genetics believes that exome sequencing will be much more useful in quickly identifying the causes of a wide range of genetic disorders that previously have gone undiagnosed.

We are the first CLIA-certified lab to offer whole exome sequencing, and moreover are the first to deliver actionable results from an exome test, as demonstrated with these results, said Charles Dunlop, chief executive officer of Ambry Genetics. However, this is just the beginning. We stand ready to solve medical mysteries for clinicians, and to bring relief to patients and their caregivers who may be suffering from conditions of unknown cause and origin. Our Clinical Diagnostic Exome test is now available to clinicians and their patients across the country, and is already covered by some national health insurance carriers. Having helped three families in these initial cases, we are eagerly anticipating helping many more.

We are most pleased to be able to share these patient-specific results from the Clinical Diagnostic Exome, said Elizabeth Chao, M.D., assistant medical director of Ambry Genetics. We are looking forward to documenting them, further, and conducting additional Clinical Diagnostic Exome tests, in coming months.

It was extremely rewarding and exciting to share these results with the families, added Julie Cohen, Sc.M., C.G.C, genetic counselor at Kennedy Krieger Institute. This is a great leap forward for clinical diagnostics and opens the door to hopefully help many clinicians find answers for the patients and caregivers who desperately need them.

About the Ambry Genetics Clinical Diagnostic Exome

Ambry Genetics is the first CLIA-certified laboratory to offer whole exome sequencing for clinical diagnostics. To date, underlying causative genes have been discovered for fewer than half of all monogenic disorders, making the Clinical Diagnostic Exome a powerful tool to help diagnose affected patients whose conditions have eluded traditional diagnostic approaches. Exome sequencing also provides a highly effective, cost- and time-saving method to diagnosis genetic diseases that are associated with multiple genes for which limited testing and/or no comprehensive panels are available. More information is available at http://www.ambrygen.com/clinical-diagnostic-exome.

About Ambry Genetics

See more here:
Ambry Genetics Reports Specific Results from Clinical Diagnostic Exome™ Testing of Patients at Kennedy Krieger Institute

29 February 2012 Last updated at 10:39 ET

Treatment which aims to correct a rare inherited genetic defect has helped a patient at risk from serious infection, a leading hospital is reporting.

The use of gene therapy against chronic granulomatous disorder (CGD) is a third success for Great Ormond Street Hospital in London.

Patients with CGD cannot make cells to fight bacterial and fungal infection.

Scientists used a virus to deliver a functioning version of the faulty gene which causes the disease.

Clinical trials at Great Ormond Street and its linked research centre, the Institute for Child Health at University College London, have focused on rare immune conditions caused by a single gene defect.

Early trials in 16 patients with X-linked severe combined immunodeficiency syndrome (x-SCID) and Adenosine Deaminase Deficiency causing Severe Combined Immune Deficiency (ada-SCID), who previously were so vulnerable to infection they needed to live in sterile conditions, have worked well, allowing most of them to start enjoying normal lives.

The decision was taken to use a similar technique on a teenage CGD patient who had fallen prey to a serious fungal lung infection, and was not expected to survive more than a year.

One in 150,000 children has the gene defect which causes CGD, and there is only one way to cure it - with a bone marrow transplant.

In the case of the teenage patient, no matching donor was available.

See the rest here:
Therapy 'aiding immune disease'