PUBLIC RELEASE DATE:

24-Oct-2013

Contact: Cathy Yarbrough press@ashg.org 858-243-1814 American Society of Human Genetics

Research on the DNA of a large multi-generational family has provided a genetic clue that enabled scientists to pinpoint a gene that plays a role in mitral valve prolapse (MVP), a common cardiac disease that is a leading cause of heart failure, according to a study presented today (Thursday, Oct. 24) at the American Society of Human Genetics 2013 meeting in Boston.

The scientists who located the gene, named DCSH1, also determined how mutations in this gene disrupt the normal embryonic development of the mitral valve, one of the valves that controls blood flow in the heart.

"This work provides insights into the pathways regulating valve growth and development," said Susan Slaugenhaupt, Ph.D., Associate Professor of Neurology in the Center for Human Genetic Research at Massachusetts General Hospital and Harvard Medical School and one of the lead scientists in the collaborative group that conducted the research.

"The results implicate a previously unrecognized paradigm in the development of long-term structural integrity in the mitral valve," said Ronen Y. Durst, M.D., former member of Dr. Slaugenhaupt's lab and now a senior cardiologist at Hebrew University and Hadassah Medical Center in Jerusalem. Dr. Durst presented the study this afternoon at ASHG 2013.

The researchers' first step was to link MVP to a region on human chromosome 11 in the DNA of the group of relatives with the heart disorder. By sequencing that DNA region in family members, the scientists were able to link mutations in DCSH1 to MVP.

To understand the normal biological functions altered by the mutated copy of DCSH1, the researchers turned to two animal models, zebrafish and mice. Experimentally reducing the expression level of the zebrafish version of DCSH1 resulted in abnormal heart development.

"Treating the zebrafish embryos with the normal copy of the DCHS1 gene rescued the lesion, while the mutated human DCHS1 gene did not," said Dr. Slaugenhaupt. "This finding constitutes strong evidence that the mutation disrupts the normal function of DCHS1."

Read more here:
First gene detected for most common form of mitral valve prolapse

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

24-Oct-2013

Contact: Kathryn Ruehle kruehle@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, October 24, 2013Performing surgery to take pressure off the spine after a traumatic injury soon after the event could prevent or reverse some of the secondary damage caused by swelling and decreased blood flow to the injured spine. However, strong evidence to support early spinal surgery is lacking, mainly because the available study data cannot be easily compared, as explained in a review of this controversial field published in Journal of Neurotrauma, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available on the Journal of Neurotrauma website.

Joost van Middendorp, Allard Hosman, and Suhail Doi, Stoke Mandeville Hospital (Aylesbury, UK), University of Oxford, UK, University of Queensland (Brisbane, Australia), and Radboud University Nijmegen Medical Center (the Netherlands), performed a systematic review of the literature on spinal decompression surgery following traumatic spinal cord injury (SCI).

Although debate continues over the effects of the timing of surgery, the authors found that "early" compared to "late" spinal surgery was associated with significantly greater motor and neurological improvement and shorter length of hospital stay. As the authors report, though, the evidence supporting early spinal surgery "lack robustness" due to various sources of bias within the studies and heterogeneity within and between the studies. For example, the studies being compared include patients with various severities and levels of spinal cord injuries.

They report their findings in "The Effects of the Timing of Spinal Surgery after Traumatic Spinal Cord Injury: A Systematic Review and Meta-Analysis."

"This timely article contributes additional data and discussion to the general topic of decompression surgery as an effective strategy to protect against traumatic SCI," says W. Dalton Dietrich, III, PhD, Deputy Editor of Journal of Neurotrauma and Kinetic Concepts Distinguished Chair in Neurosurgery, Professor of Neurological Surgery, Neurology and Cell Biology, University of Miami Leonard M. Miller School of Medicine. "This well done meta-analysis of published data should therefore be of great interest to the readership of the Journal, including spinal surgeons."

###

About the Journal

Visit link:
Does the timing of surgery to treat traumatic spinal cord injury affect outcomes?

Recommendation and review posted by Bethany Smith

Oct. 24, 2013 A common genetic variant that affects 1 in 3 people significantly increases the risk of colorectal cancer from the consumption of red meat and processed meat, according to a study presented today at the annual American Society of Human Genetics 2013 meeting.

In addition to identifying a gene that raises risk for colorectal cancer from eating red or processed meat, the study -- the first to identify the interactions of genes and diet on a genome-wide scale -- also reveals another specific genetic variation that appears to modify whether eating more vegetables, fruits and fiber actually lowers your colorectal cancer risk.

"Diet is a modifiable risk factor for colorectal cancer. Our study is the first to understand whether some individuals are at higher or lower risk based on their genomic profile. This information can help us better understand the biology and maybe in the future lead to targeted prevention strategies," said lead author Jane Figueiredo, Ph.D., Assistant Professor of Preventive Medicine at the Keck School of Medicine of USC.

"But we are not saying that if you don't have the genetic variant that you should eat all the red meat you'd like," Figueiredo added. "People with the genetic variant allele have an even higher increased risk of colorectal cancer if they consume high levels of processed meat, but the baseline risk associated with meat is already pretty bad."

We've all heard reports about how certain foods may lower or raise the risk for certain diseases, such as cancer. But how our personal genetic variations modify the effects of diet on disease has not yet been thoroughly investigated, said senior author Ulrike Peters, Ph.D., M.P.H, of the Fred Hutchinson Cancer Research Center's Public Health Sciences Division.

The researchers systematically searched the more than 2.7 million genetic sequences for interactions with consumption of red and processed meat. The study looked at 9,287 patients with colorectal cancer and a control group of 9,117 individuals without cancer.

The risk of colorectal cancer associated with processed meat was significantly higher among people with the genetic variant rs4143094, the study shows. This variant is located on the same chromosome 10 region that includes GATA3, a transcription factor gene previously linked to several forms of cancer. The transcription factor encoded by this gene normally plays a role in the immune system, but carries this genetic variant in about 36 percent of the population.

The researchers speculate that the digestion of processed meat may promote an immunological or inflammatory response that may trigger tumor development. The GATA3 transcription factor normally would help suppress the immunological or inflammatory response. However, if the GATA3 gene region contains a genetic variant, it may encode a dysregulated transcription factor that impacts its ability to suppress the response.

But other genetic vatiants may be beneficial: On chromosome 8, another statistically significant diet-gene interaction was found in variant rs1269486. For people with this variant, eating your fruits and veggies may be even better for you when it comes to colorectal cancer risk, the research shows.

The study is part of an ongoing collaboration among multiple institutions worldwide, the international NIH-funded Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO).

See the article here:
Gene variant that raises risk for colorectal cancer from eating processed meat present in one-in-three people

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

24-Oct-2013

Contact: Suzanne Wu suzanne.wu@usc.edu 213-740-0252 University of Southern California

A common genetic variant that affects 1 in 3 people significantly increases the risk of colorectal cancer from the consumption of red meat and processed meat, according to a study presented today at the annual American Society of Human Genetics 2013 meeting, the largest gathering of human geneticists in the world.

In addition to identifying a gene that raises risk for colorectal cancer from eating red or processed meat, the study the first to identify the interactions of genes and diet on a genome-wide scale also reveals another specific genetic variation that appears to modify whether eating more vegetables, fruits and fiber actually lowers your colorectal cancer risk.

"Diet is a modifiable risk factor for colorectal cancer. Our study is the first to understand whether some individuals are at higher or lower risk based on their genomic profile. This information can help us better understand the biology and maybe in the future lead to targeted prevention strategies," said lead author Jane Figueiredo, Ph.D., Assistant Professor of Preventive Medicine at the Keck School of Medicine of USC.

"But we are not saying that if you don't have the genetic variant that you should eat all the red meat you'd like," Figueiredo added. "People with the genetic variant allele have an even higher increased risk of colorectal cancer if they consume high levels of processed meat, but the baseline risk associated with meat is already pretty bad."

We've all heard reports about how certain foods may lower or raise the risk for certain diseases, such as cancer. But how our personal genetic variations modify the effects of diet on disease has not yet been thoroughly investigated, said senior author Ulrike Peters, Ph.D., M.P.H, of the Fred Hutchinson Cancer Research Center's Public Health Sciences Division.

The researchers systematically searched the more than 2.7 million genetic sequences for interactions with consumption of red and processed meat. The study looked at 9,287 patients with colorectal cancer and a control group of 9,117 individuals without cancer.

The risk of colorectal cancer associated with processed meat was significantly higher among people with the genetic variant rs4143094, the study shows. This variant is located on the same chromosome 10 region that includes GATA3, a transcription factor gene previously linked to several forms of cancer. The transcription factor encoded by this gene normally plays a role in the immune system, but carries this genetic variant in about 36 percent of the population.

View post:
Researchers identify gene variant that raises risk for colorectal cancer from eating processed meat

Recommendation and review posted by Bethany Smith

BOSTON & LEUVEN, Belgium--(BUSINESS WIRE)--

Cartagenia, the world leader in providing genetic labs and clinicians with software-based workflow support for variant assessment, lab reporting, and integration of diagnostic knowledge-bases, today announced that more than 120 labs and clinics across three continents have now adopted and are relying on its Bench platform genetics diagnostics solution for use in daily practice. Bench is a web-based software and database platform with features and knowledge sources that allows clinicians to analyze, interpret and manage genomic variations in routing diagnostics.

Cartagenia CEO Herman Verrelst said the marked success of the Bench platform underscores a true need for clinical grade tools for lab variant assessment and reporting support in the rapidly expanding world of genetic diagnostics.

It is very rewarding to see the enthusiastic response we are receiving for our Bench solutions in all our key markets and across three continents, Verrelst said. We believe this reflects very strong growth in NGS adoption and a clear need for diagnostic-grade solutions in lab interpretation and reporting workflow automation, integration with the referring physician and hospital IT, and linking to the community through data sharing initiatives all tools that Cartagenia Bench platform provides.

Cartagenia also announced that it has released a new version of its Bench Lab NGS module, the powerful software and database solution for robust and reliable NGS variant analysis, interpretation and reporting pipelines.

The new version of the NGS module is focused on increasing a labs efficiency through faster report generation and has added:

Greenwood Genetic Center, a South Carolina-based, non-profit institute that provides genetic services and diagnostic laboratory testing, adopted Bench Lab NGS in 2012. Mike Friez, Greenwoods Director of Diagnostic Laboratories, noted that his lab generates DNA sequencing data on large portions of the genome and Cartagenias Bench Lab product facilitates the sorting, filtering and organization of these data.

Implementing the Cartagenia Bench Lab NGS platform has significantly impacted our ability to effectively manage and interpret data for our targeted NGS panels as well as the exomes generated from our undiagnosed patients, Friez said. By pooling a variety of powerful resources, Cartagenia really does enable us to make progress in assisting the families we serve.

Jean-Louis Mandel, Professor of Genetics at the Faculty of Medicine of Strasbourg, France, and Head of the Human Molecular Genetic Group at the IGBMC, noted that he is impressed by the collaborative approach set up with Cartagenia.

We have seen the Bench Lab NGS platform evolve rapidly over the period of time weve worked with Cartagenia to evaluate the software and run it on our own research and diagnostic samples, Prof. Mandel said. Cartagenia speaks the language of clinical geneticists, and Im looking forward to having many fruitful and constructive discussions that will undoubtedly lead to yet more new analysis and interpretation support features of wide interest.

The rest is here:
Cartagenia Announces More Than 120 Labs and Clinics Globally Now Relying on Its Bench Platform for Routine Genetic ...

Recommendation and review posted by Bethany Smith

Oct. 24, 2013 Researchers from the Institute of Genomic Medicine (Inmegen) carried out a study on genetic factors that can be associated to metabolic syndrome, main trigger of cardiovascular diseases, type II diabetes and obesity, with the goal of identifying high risk populations and influence its treatment in the most effective way.

Under the lead of Lorena Orozco, the objective of the research is to know the genetic susceptibility of the mixed and indigenous Mexican populations to developing metabolic syndrome or one of its components and the relationship of this risk with its indigenous, Caucasian or African origins.

The researcher explained that the metabolic syndrome is characterized by the simultaneous presence or sequence of at least three of the next components: increment in glucose levels, triglycerides, arterial hypertension, low levels of benefic cholesterol (HDL) and rise of the waist circumference.

She also said that the study includes individuals from different Mexican states throughout the country, like Chiapas, San Luis Potos, Mexico State, Yucatn, Chihuahua, Oaxaca, Puebla and Mexico City.

The project's study group was integrated by 800 mixed race individuals and 400 natives more than 30 years old, from both sexes. Blood samples were taken from this groups in order to know their cholesterol, triglycerides, glucose and blood pressure levels, as well as their body mass, size, weight and height.

In this stage of the study, it was founded that 42 per cent of the mixed population suffered from metabolic syndrome and 10 per cent had type II diabetes.

Regarding the indigenous group, the results showed that there were communities like the Tojolabales form Chiapas, where type II diabetes was barely present, contrasting with other groups like the Totonacas from Veracruz, were the prevalence of this disease was near a 25 per cent. It was also found that 45 per cent of the Tarahumaras from Chihuahua that were tested had high blood pressure.

In another phase of the project, DNA from each individual was analyzed to evaluate the intervention of three genes (AKT1, GCKR and ADIPOQ) that participate in the metabolism of glucose or fatty acids.

"We are heirs of a genetics that in a hostile environment, thousands of years ago, helped us survive long periods of famine and other hardships. However, in the present, this genetics is the detonator of diseases such as diabetes, obesity and metabolic syndrome," emphasized the researcher.

Regarding the main discoveries, the researchers observed that in the mixed population there are variations in the sequence of ADIPOQ and GCKR genes that are associated to the rise of triglycerides in the blood stream. Meanwhile, the variations of the gene AKT1 are related with low levels of benefic cholesterol.

See the rest here:
Genetic factors predispose metabolic syndrome in mixed races

Recommendation and review posted by Bethany Smith

Newswise BOSTON/CHICAGO An international research consortium led by investigators at Massachusetts General Hospital (MGH) and the University of Chicago has answered several questions about the genetic background of obsessive-compulsive disorder (OCD) and Tourette syndrome (TS), providing the first direct confirmation that both are highly heritable and also revealing major differences between the underlying genetic makeup of the disorders. Their report is being published in the October issue of the open-access journal PLOS Genetics.

"Both TS and OCD appear to have a genetic architecture of many different genes perhaps hundreds in each person acting in concert to cause disease," says Jeremiah Scharf, MD, PhD, of the Psychiatric and Neurodevelopmental Genetics Unit in the MGH Departments of Psychiatry and Neurology, senior corresponding author of the report. "By directly comparing and contrasting both disorders, we found that OCD heritability appears to be concentrated in particular chromosomes particularly chromosome 15 while TS heritability is spread across many different chromosomes."

An anxiety disorder characterized by obsessions and compulsions that disrupt the lives of patients, OCD is the fourth most common psychiatric illness. TS is a chronic disorder characterized by motor and vocal tics that usually begins in childhood and is often accompanied by conditions like OCD or attention-deficit hyperactivity disorder. Both conditions have been considered to be heritable, since they are known to often recur in close relatives of affected individuals, but identifying specific genes that confer risk has been challenging.

Two reports published last year in the journal Molecular Psychiatry, with leadership from Scharf and several co-authors of the current study, described genome-wide association studies (GWAS) of thousands of affected individuals and controls. While those studies identified several gene variants that appeared to increase the risk of each disorder, none of the associations were strong enough to meet the strict standards of genome-wide significance. Since the GWAS approach is designed to identify relatively common gene variants and it has been proposed that OCD and TS might be influenced by a number of rare variants, the research team adopted a different method. Called genome-wide complex trait analysis (GCTA), the approach allows simultaneous comparision of genetic variation across the entire genome, rather than the GWAS method of testing sites one at a time, as well as estimating the proportion of disease heritability caused by rare and common variants.

"Trying to find a single causative gene for diseases with a complex genetic background is like looking for the proverbial needle in a haystack," says Lea Davis, PhD, of the section of Genetic Medicine at the University of Chicago, co-corresponding author of the PLOS Genetics report. "With this approach, we aren't looking for individual genes. By examining the properties of all genes that could contribute to TS or OCD at once, we're actually testing the whole haystack and asking where we're more likely to find the needles."

Using GCTA, the researchers analyzed the same genetic datasets screened in the Molecular Psychiatry reports almost 1,500 individuals affected with OCD compared with more than 5,500 controls, and nearly TS 1,500 patients compared with more than 5,200 controls. To minimize variations that might result from slight difference in experimental techniques, all genotyping was done by collaborators at the Broad Institute of Harvard and MIT, who generated the data at the same time using the same equipment. Davis was able to analyze the resulting data on a chromosome-by-chromosome basis, along with the frequency of the identified variants and the function of variants associated with each condition.

The results found that the degree of heritability for both disorders captured by GWAS variants is actually quite close to what previously was predicted based on studies of families impacted by the disorders. "This is a crucial point for genetic researchers, as there has been a lot of controversy in human genetics about what is called 'missing heritability'," explains Scharf. "For many diseases, definitive genome-wide significant variants account for only a minute fraction of overall heritability, raising questions about the validity of the approach. Our findings demonstrate that the vast majority of genetic susceptibility to TS and OCD can be discovered using GWAS methods. In fact, the degree of heritability captured by GWAS variants is higher for TS and OCD than for any other complex trait studied to date."

Nancy Cox, PhD, section chief of Genetic Medicine at the University of Chicago and co-senior author of the PLOS Genetics report, adds, "Despite the fact that we confirm there is shared genetic liability between these two disorders, we also show there are notable differences in the types of genetic variants that contribute to risk. TS appears to derive about 20 percent of genetic susceptibility from rare variants, while OCD appears to derive all of its susceptibility from variants that are quite common, which is something that has not been seen before."

In terms of the potential impact of the risk-associated variants, about half the risk for both disorders appears to be accounted for by variants already known to influence the expression of genes in the brain. Further investigation of those findings could lead to identification of the affected genes and how the expression changes contribute to the development of TS and OCD. Additional studies in even larger patient populations, some of which are in the planning stages, could identify the biologic pathways disrupted in the disorder, potentially leading to new therapeutic approaches.

The study is a collaboration between two consortia the Tourette Syndrome Association International Consortium for Genomics (TSAICG) and the International OCD Foundation Genetics Collaborative (IOCDFGC) representing 43 institutions across 12 countries. Scharf, an assistant professor of Neurology at Harvard Medical School, is co-chair of the TSAICG steering committee and a member of the IOCDFGC steering committee. Cox is a professor of Medicine and Human Genetics, and Davis a research assistant professor at the University of Chicago. Additional co-authors include Carol Mathews, MD, University of California at San Francisco; James Knowles, MD, University of Southern California, and Evelyn Stewart, MD, University of British Columbia.

View original post here:
Genetic Analysis Reveals Novel Insights Into the Genetic Architecture of Obsessive-Compulsive Disorder, Tourette ...

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

24-Oct-2013

Contact: Mike Morrison mdmorrison@partners.org 617-724-6425 Massachusetts General Hospital

An international research consortium led by investigators at Massachusetts General Hospital (MGH) and the University of Chicago has answered several questions about the genetic background of obsessive-compulsive disorder (OCD) and Tourette syndrome (TS), providing the first direct confirmation that both are highly heritable and also revealing major differences between the underlying genetic makeup of the disorders. Their report is being published in the October issue of the open-access journal PLOS Genetics.

"Both TS and OCD appear to have a genetic architecture of many different genes perhaps hundreds in each person acting in concert to cause disease," says Jeremiah Scharf, MD, PhD, of the Psychiatric and Neurodevelopmental Genetics Unit in the MGH Departments of Psychiatry and Neurology, senior corresponding author of the report. "By directly comparing and contrasting both disorders, we found that OCD heritability appears to be concentrated in particular chromosomes particularly chromosome 15 while TS heritability is spread across many different chromosomes."

An anxiety disorder characterized by obsessions and compulsions that disrupt the lives of patients, OCD is the fourth most common psychiatric illness. TS is a chronic disorder characterized by motor and vocal tics that usually begins in childhood and is often accompanied by conditions like OCD or attention-deficit hyperactivity disorder. Both conditions have been considered to be heritable, since they are known to often recur in close relatives of affected individuals, but identifying specific genes that confer risk has been challenging.

Two reports published last year in the journal Molecular Psychiatry, with leadership from Scharf and several co-authors of the current study, described genome-wide association studies (GWAS) of thousands of affected individuals and controls. While those studies identified several gene variants that appeared to increase the risk of each disorder, none of the associations were strong enough to meet the strict standards of genome-wide significance. Since the GWAS approach is designed to identify relatively common gene variants and it has been proposed that OCD and TS might be influenced by a number of rare variants, the research team adopted a different method. Called genome-wide complex trait analysis (GCTA), the approach allows simultaneous comparision of genetic variation across the entire genome, rather than the GWAS method of testing sites one at a time, as well as estimating the proportion of disease heritability caused by rare and common variants.

"Trying to find a single causative gene for diseases with a complex genetic background is like looking for the proverbial needle in a haystack," says Lea Davis, PhD, of the section of Genetic Medicine at the University of Chicago, co-corresponding author of the PLOS Genetics report. "With this approach, we aren't looking for individual genes. By examining the properties of all genes that could contribute to TS or OCD at once, we're actually testing the whole haystack and asking where we're more likely to find the needles."

Using GCTA, the researchers analyzed the same genetic datasets screened in the Molecular Psychiatry reports almost 1,500 individuals affected with OCD compared with more than 5,500 controls, and nearly TS 1,500 patients compared with more than 5,200 controls. To minimize variations that might result from slight difference in experimental techniques, all genotyping was done by collaborators at the Broad Institute of Harvard and MIT, who generated the data at the same time using the same equipment. Davis was able to analyze the resulting data on a chromosome-by-chromosome basis, along with the frequency of the identified variants and the function of variants associated with each condition.

The results found that the degree of heritability for both disorders captured by GWAS variants is actually quite close to what previously was predicted based on studies of families impacted by the disorders. "This is a crucial point for genetic researchers, as there has been a lot of controversy in human genetics about what is called 'missing heritability'," explains Scharf. "For many diseases, definitive genome-wide significant variants account for only a minute fraction of overall heritability, raising questions about the validity of the approach. Our findings demonstrate that the vast majority of genetic susceptibility to TS and OCD can be discovered using GWAS methods. In fact, the degree of heritability captured by GWAS variants is higher for TS and OCD than for any other complex trait studied to date."

Read the original here:
Genetic analysis reveals insights into the genetic architecture of OCD, Tourette syndrome

Recommendation and review posted by Bethany Smith

SALT LAKE CITY, Oct. 24, 2013 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN) today announced it will present data this week at the American Society of Human Genetics (ASHG) annual meeting in Boston showing that the Myriad myRisk Hereditary Cancer test meets rigorous quality standards and provides clinical sequencing results equivalent to 99.99 percent accuracy. Myriad myRisk Hereditary Cancer is a new diagnostic test that provides patients with information about their hereditary risk for eight major cancers including breast, colorectal, ovarian, endometrial, pancreatic, prostate, gastric cancers and melanoma.

"Next-generation DNA sequencing offers the ability to test many genes at once, but it must be optimized to ensure clinical accuracy. We've invested three years of research to optimize our Myriad myRisk Hereditary Cancer test, and the validation data show that Myriad myRisk Hereditary Cancer offers 99.99 specificity and sensitivity which means it provides unprecedented quality and accuracy equal to the gold standard Sanger sequencing," said Richard J. Wenstrup, M.D., chief medical officer of Myriad. "As next-generation technology advances, mutation classification techniques also must evolve to ensure high quality data interpretation for clinical decision making. Myriad has developed a robust variant classification program called Myriad myVision(TM) to achieve highly accurate, clinically-actionable, genetic test results for patients and healthcare providers."

The five studies being presented at the ASHG annual meeting include:

Development of a Next Generation Sequencing Panel to Assess Hereditary Cancer Risk that Includes Clinical Diagnostic Analysis of the BRCA1 and BRCA2 Genes. [Roa et al., Poster: Oct. 24, 2013, 11:30 a.m. -- 12:30 p.m. ET]

This study validated the myRisk Hereditary Cancer test, which is a 25-gene panel that uses next generation sequencing (NGS) technology. The study compared the myRisk Hereditary Cancer test to the gold standard Sanger sequencing for evaluation of BRCA1 and BRCA2 mutations in 1,864 patient samples. myRisk Hereditary Cancer detected 15,877 variants compared to 15,878 variants using Sanger sequencing, resulting in an analytic sensitivity > 99.99 percent. These data show that a NGS gene panel designed to meet rigorous quality standards can provide clinical sequencing results that are equivalent to those obtained from Sanger DNA sequencing analysis (i.e., greater sensitivity without loss of specificity). In this validation study, Myriad's myRisk Hereditary Cancer test was shown to be highly effective and provided high quality, accurate results for clinical decision-making purposes.

A Clinical History Weighting Algorithm Accurately Classifies BRCA1 and BRCA2 Variants. [Bowles et al., Poster: Oct. 25, 2013, 10:30 -- 11:30 a.m. ET]

This study evaluated a clinical history weighting algorithm designed to provide highly accurate classifications for BRCA1 and BRCA2 variants of uncertain significance and which is integral to Myriad's proprietary myVision(TM) Variant Classification Program. The algorithm is based on the premise that disease-associated mutations will be observed more often in individuals at high risk for carrying a mutation, as determined by personal and family history. Statistical analysis weights the family histories of each patient carrying a variant of interest and compares those histories to control patients carrying variants known to be benign or deleterious. Data from more than 400,000 patients were used to develop the algorithm, which was validated against 6,000 BRCA1 and BRCA2 variants. The results showed that the clinical history weighting algorithm accurately classified well-documented variants associated with BRCA1 and BRCA2 and allowed classification with fewer observations than other techniques, providing timely and accurate classifications to guide clinical care. Importantly, this clinical history weighting algorithm facilitated the accurate reclassification of BRCA1 and BRCA2 variants of uncertain significance, which will improve the clinical management of patients at risk for hereditary cancer.

Frequencies of BRCA1, BRCA2, PALB2, and CDKN2A Germline Mutations in Familial Pancreatic Cancer (FPC): A PACGENE study. [Zhen/Petersen et al., Poster: Oct. 24, 2013, 10:30 -- 11:30 a.m. ET]

This study assessed the frequency of germline mutations in four of the genes in the myRisk Hereditary Cancer panel -- BRCA1, BRCA2, PALB2, and CDKN2A -- in patients with familial pancreatic cancer. Using samples from a large pancreatic cancer registry, the DNA from 80 patients who met familial pancreatic cancer criteria was tested. The frequencies for deleterious or suspected deleterious mutations and variants of uncertain significance (VUS) among the patients tested totaled 13.8 percent: BRCA1 (2.9 percent), no VUS; BRCA2 (4.4 percent), no VUS; PALB2 (1.3 percent), no VUS; CDKN2A (5.2 percent), 3 VUS. These data show the genetic heterogeneity of germline mutations in patients with familial pancreatic cancer and strongly suggest that these patients are appropriate candidates for genetic testing using a hereditary cancer panel that tests for multiple genes to prevent a misdiagnosis.

Detection of Large Rearrangements in PMS2. [Mancini-DiNardo et al., Podium: Oct. 25, 2013, 3:15 p.m. ET]

Continue reading here:
Myriad myRisk(TM) Hereditary Cancer Test Is Highly Accurate in Key Validation Study

Recommendation and review posted by Bethany Smith

Oxford BioMedica gets go-ahead to continue its trials

5:30pm Thursday 24th October 2013 in News

GENE therapy company Oxford BioMedica has been given the go-ahead by drug regulators to recruit more volunteers for a clinical trial of a treatment for eye disease.

The trials were halted in June after low concentrations of a potential impurity were discovered in the drug.

The companys share price rose four per cent on the news, having already risen following a million-dollar milestone payment from pharmaceutical giant Pfizer and a 7.1m status recognition award from the UK Government.

BioMedica, based at Oxford Science Park, has used new analytical methods to identify the impurity as DNA from foetal bovine serum, the most widely-used growth supplement in certain laboratory techniques.

Chief executive John Dawson said: We place the highest importance on safety, and our analytical methods and quality assurance processes are continuously evolving to ensure that we remain at the forefront of gene therapy development and manufacture.

Im confident that, with significant opportunities ahead, Oxford BioMedica will continue to lead the way in delivering novel gene therapies to patients.

The eye treatment uses Biomedicas LentiVector technology, developed from research at Oxford University by the companys founders, Professors Alan and Sue Kingsman.

Before resuming the trials in France and the US, the study must be approved by ethics committees following approval by the US Food and Drug Administration and the French regulatory agency, ANSM.

More here:
Oxford BioMedica gets go-ahead to continue its trials

Recommendation and review posted by Bethany Smith

Genetic Engineering as a course choice after 12th
This Video suggests Genetic Engineering as a course that can be done after doing 12th (10+2).

By: Indiaeduinfo

Excerpt from:
Genetic Engineering as a course choice after 12th - Video

Recommendation and review posted by Bethany Smith

(4.4) Genetic Engineering and Biotechnology - IB SL Biology Past Exam Paper 1 Questions
FACEBOOK: http://www.facebook.com/ibblueprint TWITTER: http://www.twitter.com/ibblueprint POWERPOINTS: http://www.slideshare.net/yangwang123 WEBSITE: http://...

By: IB Blueprint

See the article here:
(4.4) Genetic Engineering and Biotechnology - IB SL Biology Past Exam Paper 1 Questions - Video

Recommendation and review posted by Bethany Smith

By Eva Recinos2013-10-23 02:28:28 UTC

Genetic engineering and synthetic biology are making it easier to create everything from food ingredients to scents using unexpected sources.

That's where genetically engineered yeast comes in. A recent article in the New York Times explored its larger implications and how companies like Amyris continue to push the scope of what engineered yeast can produce.

Amyris found that it can create not only ingredients for cosmetics products but also artemisinin, a compound used in drugs to treat malaria. Artemisinin normally comes from sweet wormwood, harvested by both Asian and African farmers, as The Guardian reports. Though the artificial creation of the important compound means good news in one sense, some see it as an indication that genetically engineering it could jeopardize the livelihood of harvesters.

Amyris co-founder Jay Keasling told the New York Times that the process is "just like brewing beer, but rather than spit out alcohol, the yeast spits out these products."

Evolva also experimented with genetically engineered yeast and found that it could produce synthetic vanillin, sometimes used as an alternative to the standard, natural vanilla extract.

Vanillin could be used for everything from fragrances to dairy products. As the company's site explains, vanilla and vanillin are used in many products and therefore created at a collectively large rate, but "only a small fraction of this volume contains natural vanilla, with the vast majority being synthetic vanillin."

Yet, as the New York Times article reports, other groups see problems with the artificial creations, questioning the idea of integrating engineered ingredients into everyday foods.

In the meantime, Amyris plans to work with Michelin to produce a rubber product and will likely continue to create other partnerships for future experiments.

Have something to add to this story? Share it in the comments.

Here is the original post:
Genetically Engineered Yeast Yields More Than Beer

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

23-Oct-2013

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

New Rochelle, NY, October 23, 2013The stem cell field is at a critical point, with the potential for a major impact on clinical medicine if stem cell-based therapies can overcome serious and immediate challenges. These challenges and key action items to overcome them are described in an article published on Fast Track as part of the World Stem Cell Report 2013, a special upcoming supplement to Stem Cells and Development, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Stem Cells and Development website.

The World Stem Cell Report is the official publication of the World Stem Cell Summit, to be held December 4-6, 2013 in San Diego, CA. More than 1,000 researchers and clinicians from around the globe will attend the Summit.

In the article "Key Action Items for the Stem Cell Field Looking to 2014," author Paul S. Knoepfler, University of California Davis School of Medicine, describes the building momentum behind stem cells, both for their impact as transformative basic science discoveries and their potential for translation to clinical medicine. At the same time, however, he outlines several critical challenges, including "stem cell tourism," the complex balance between innovation and regulatory/FDA compliance, and the need to educate physicians and patients about stem cell therapies.

"Paul Knoepfler is being honored at the World Stem Cell Summit with the Stem Cell Action 'National Advocacy Award' from the Genetics Policy Institute," says Bernard Siegel, JD, Co-Chair of the 2013 World Stem Cell Summit and Executive Director, Genetics Policy Institute (GPI, Palm Beach, FL). Siegel is also Co-Editor-in-Chief of the World Stem Cell Report."Dr. Knoepfler's unique perspective as a scientist and patient advocate provides a fresh perspective to the stem cell universe. As a communicator, Paul is unsurpassed. We are proud to include his views in the Report."

"Key opinion leaders in the field like Paul Knoepfler bring into focus where we are, and where we are not yet, in regard to the further translation of stem cell research," says Editor-in-Chief Graham C. Parker, PhD, The Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine (Detroit, MI).

###

The World Stem Cell Summit is the flagship meeting of the international stem cell community. The Summit aims to accelerate the discovery and development of lifesaving cures and therapies, bringing global stakeholders together to solve global challenges. It builds a foundation to advance cell therapies by establishing a supportive environment of regulation, legislation, financing, reimbursement, and patient advocacy. The 2013 World Stem Cell Summit will be held at the Manchester Grand Hyatt San Diego, in San Diego, California, December 4-6, 2013. It is presented by GPI and is co-organized by the California Institute for Regenerative Medicine, Mayo Clinic, Scripps Research Institute, Sanford-Burnham Medical Research Institute, and Kyoto University Institute for Integrated Cell-Material Sciences (iCeMS). For more information, visit the World Stem Cell Summit website.

See more here:
How will stem cell therapies impact patient care?

Recommendation and review posted by Bethany Smith

Matric revision: Life Sciences: Genetics (3/5): homozygous ...
Homozygous, dominance, co-dominance, incomplete dominance, multiple alleles Which of the cattle will definitely be homozygous? What if both are dominant? How...

By: wcednews

See the rest here:
Matric revision: Life Sciences: Genetics (3/5): homozygous ... - Video

Recommendation and review posted by Bethany Smith

SAQ (4.3) Theoretical genetics - IB SL Biology Past Exam Paper 2 Questions
FACEBOOK: http://www.facebook.com/ibblueprint TWITTER: http://www.twitter.com/ibblueprint POWERPOINTS: http://www.slideshare.net/yangwang123 WEBSITE: http://bio.ibblueprint.com Standard Level...

By: IB Blueprint

Read the rest here:
SAQ (4.3) Theoretical genetics - IB SL Biology Past Exam Paper 2 Questions - Video

Recommendation and review posted by Bethany Smith

Introduce Genetics with Seeds
Enhance your introduction to genetics by showing pea seeds with different characteristics--providing a connection to Gregor Mendel #39;s use of pea plants to demonstrate inheritance.

By: FlinnScientific

Follow this link:
Introduce Genetics with Seeds - Video

Recommendation and review posted by Bethany Smith

SALT LAKE CITY, Oct. 23, 2013 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN) today announced that it will issue financial results for the first fiscal quarter 2014 following the close of market on Tuesday, Nov. 5, 2013.

The Company also will host a conference call on Tuesday, Nov. 5, 2013 at 4:30 p.m. ET to discuss the financial results. Participating on the call will be Peter Meldrum, President and Chief Executive Officer; Mark Capone, President of Myriad Genetic Laboratories, Inc.; and James Evans, Chief Financial Officer.

To listen to the call, interested parties within the United States may dial 800-354-6885 or +1 303-223-2680 for international callers. All callers will be asked to reference reservation number 21676804.

The conference call also will be available through a live webcast at http://www.myriad.com. A replay of the call will be available two hours after the end of the call for seven days and may be accessed by dialing 800-633-8284 within the United States or +1 402-977-9140 for international callers and entering reservation number 21676804.

About Myriad Genetics

Myriad Genetics is a leading molecular diagnostic company dedicated to making a difference in patients' lives through the discovery and commercialization of transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. Myriad's portfolio of molecular diagnostic tests are based on an understanding of the role genes play in human disease and were developed with a commitment to improving an individual's decision making process for monitoring and treating disease. Myriad is focused on strategic directives to introduce new products, including companion diagnostics, as well as expanding internationally. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, Melaris, myPath Melanoma(TM), myPlan Lung Cancer(TM), myRisk Hereditary Cancer(TM), TheraGuide, Prezeon, OnDose, Panexia and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and foreign countries. MYGN-F, MYGN-G

Read more here:
Myriad Genetics to Announce Fiscal First Quarter 2014 Financial Results on Tuesday November 5, 2013

Recommendation and review posted by Bethany Smith

CAMBRIDGE, Mass.--(BUSINESS WIRE)--

Good Start Genetics, Inc.,an innovative molecular diagnostics company harnessing a powerful, proprietary next-generation DNA sequencing (NGS) capability, today announced that seven abstracts were accepted for presentation at the 2013 American Society for Human Genetics (ASHG) Annual Meeting. The abstracts highlight Good Starts leadership position in next-generation DNA sequencing and present new data that demonstrate the companys NGS-based carrier screening is able to detect rare and novel mutations not detected by other laboratories. The findings reinforce that the NGS-based technology utilized in the companys carrier screening test, GoodStart Select, more accurately detects pathogenic mutations, irrespective of patient ethnicity, and results in fewer missed carriers.

These data, generated in both the clinical and research sides of our business, further demonstrate the ability of our validated technology to capture disease-causing mutations that other tests simply cannot detect, stated Don Hardison, president and chief executive officer of Good Start Genetics. As a result, the patient receives the most comprehensive and clinically-relevant test results available and can further understand the risks of conceiving a child with a debilitating or fatal inherited disease prior to becoming pregnant.

Two of the posters presented are highlighted below.

Enhanced Detection through Next Generation Sequencing

In a poster presentation, titled Detection of Carriers of Rare and Novel Mutations using Next Generation DNA Sequencing, data demonstrate that Good Start Genetics NGS platform is able to detect uncommon and previously unrecognized mutations across a spectrum of society-recommended disorders. Through analysis of nearly 16,500 patients referred for carrier screening from in vitro fertilization (IVF) clinics across the U.S., Good Start identified 146 unique mutations and 771 carriers across 15 genes. More than a third (39%) of these mutations would not have been detected by traditional carrier screening, in particular the novel pathogenic mutations, which are only detectable with comprehensive sequencing. These data showcase the accuracy and precision of NGS-based carrier screening, ultimately providing clinically relevant information to patients that may decrease their risk of conceiving a child with a debilitating or fatal genetic disorder. The data were presented in program number 2827W.

Effective Detection of Tay-Sachs Disease Carrier Status

In a second poster presentation, titled Discrepant Tay-Sachs disease enzyme and DNA carrier screening results in the African American population, the authors demonstrate that the current standard of care for detecting carriers of Tay-Sachs disease (TSD) is not an accurate method to assess carrier status in African Americans and possibly other populations. Retrospective analysis of 2,656 patients demonstrated that there is a high percentage of African Americans who do not have a genetic mutation for TSD, yet presented with an indeterminate or positive TSD result from enzyme analysis. This conflicts with current guidelines from ACOG that recommend enzyme analysis as a screening tool in low-risk patients. The data were presented in program number 2543W.

About ASHG

The American Society for Human Genetics is the primary professional membership organization for human genetics specialists worldwide. The Societys nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses and others who have a special interest in the field of human genetics. The 2013 ASHG Annual Meeting is attended by research scientists and health professionals from around the world who are dedicated to genetics research, education and support.

Original post:
New Findings Highlight the Power and Accuracy of Good Start Genetics’ Carrier Screening Technologies

Recommendation and review posted by Bethany Smith

HAIFA, Israel, Oct. 23, 2013 (GLOBE NEWSWIRE) -- Pluristem Therapeutics Inc. (PSTI) (TASE:PLTR), a leading developer of placenta-based cell therapies, announced today that Pluristem's VP of Development, Ohad Karnieli PhD will present at Omics Group's 2nd International Conference and Exhibition on Cell & Gene Therapy in Orlando, Florida on October 25, 2013 at 12:50pm. Dr. Karnieli's presentation will focus on Pluristem's approach on industrialized cell therapy manufacturing.

As previously announced, Pluristem's 3-dimensional cell production is manufactured in its state-of-the-art 40,000 square foot facility.

Omics Group's 2nd International Conference and Exhibition on Cell & Gene Therapy 2013 is an event which brings together a unique and international mix of leading universities and cell therapy institutions making the congress a perfect platform to share experience. It paves a way to gather visionaries through the research talks and presentations and put forward many thought provoking strategies in emerging cell & gene therapies. The conference aims to serve as a catalyst for the advancement in cell & gene therapies by connecting scientists within and across disciplines at conferences held under a single roof that create an environment conducive to information exchange, generation of new ideas and acceleration of applications that benefit society.

About Pluristem Therapeutics

Pluristem Therapeutics Inc. is a leading developer of placenta-based cell therapies. The Company's patented PLX (PLacental eXpanded) cells are a drug delivery platform that releases a cocktail of therapeutic proteins in response to a host of local and systemic inflammatory and ischemic diseases. PLX cells are grown using the company's proprietary 3D micro-environmental technology and are an "off-the-shelf" product that requires no tissue matching prior to administration.

Pluristem has a strong intellectual property position, company-owned GMP certified manufacturing and research facilities, strategic relationships with major research institutions and a seasoned management team. For more information visit http://www.pluristem.com, the content of which is not part of this press release.

The Pluristem Therapeutics Inc. logo is available at http://www.globenewswire.com/newsroom/prs/?pkgid=6882

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995 and federal securities laws. These forward-looking statements and their implications are based on the current expectations of the management of Pluristem only, and are subject to a number of factors and uncertainties that could cause actual results to differ materially from those described in the forward-looking statements. The following factors, among others, could cause actual results to differ materially from those described in the forward-looking statements: changes in technology and market requirements; we may encounter delays or obstacles in launching and/or successfully completing our clinical trials; our products may not be approved by regulatory agencies, our technology may not be validated as we progress further and our methods may not be accepted by the scientific community; we may be unable to retain or attract key employees whose knowledge is essential to the development of our products; unforeseen scientific difficulties may develop with our process; our products may wind up being more expensive than we anticipate; results in the laboratory may not translate to equally good results in real surgical settings; results of preclinical studies may not correlate with the results of human clinical trials; our patents may not be sufficient; our products may harm recipients; changes in legislation; inability to timely develop and introduce new technologies, products and applications; loss of market share and pressure on pricing resulting from competition, which could cause the actual results or performance of Pluristem to differ materially from those contemplated in such forward-looking statements. Except as otherwise required by law, Pluristem undertakes no obligation to publicly release any revisions to these forward-looking statements to reflect events or circumstances after the date hereof or to reflect the occurrence of unanticipated events. For a more detailed description of the risks and uncertainties affecting Pluristem, reference is made to Pluristem's reports filed from time to time with the Securities and Exchange Commission.

Read the original here:
Pluristem to Present at Omics Group's 2nd International Conference and Exhibition on Cell & Gene Therapy

Recommendation and review posted by Bethany Smith

23 October 2013 Last updated at 15:50 ET By Michele Paduano BBC Midlands health correspondent

Please turn on JavaScript. Media requires JavaScript to play.

Doctors at University Hospital of Birmingham NHS Trust have been working on the project for 15 years

Doctors in Birmingham have started a trial of a new gene therapy treatment they hope will help fight prostate cancer.

Injected directly into the tumour it is is designed to stimulate the body's own immune system.

Bernard Ward, 68, from Birmingham was the first patient in the world to receive the new procedure.

He is one of 20 patients taking part in the first phase of a trial by University Hospitals Birmingham.

The initial trial is designed to establish whether the treatment is safe for clinical use.

Mr Ward has suffered from prostate cancer for six years and standard treatments are no longer working.

"I just hope it works. I don't have any choice but to try this treatment because I haven't got anything else," he said.

View post:
Doctors pioneer cancer gene therapy

Recommendation and review posted by Bethany Smith

MISGAV, Israel & SAN FRANCISCO--(BUSINESS WIRE)--

Medgenics, Inc. (MDGN)(AIM:MEDU, MEDG) (the Company), the developer of a novel technology for the sustained production and delivery of therapeutic proteins in patients using their own tissue, announces that a poster highlighting the Companys second-generation EPODURE Biopump will be presented at the European Society of Gene and Cell Therapy Congress, taking place in Madrid October 25-28.

Posters will be showcased in Poster Reception Halls A-C November 1-3 and will be available for viewing from 9:30 a.m. to 2:30 p.m. local time. Poster presentations will take place from 10:00 a.m. to 12:00 p.m. The following Medgenics poster will be presented during Poster Session B on Sunday, October 27:

EPODURE is an autologous dermal Biopump capable of the sustained production of therapeutic erythropoietin (EPO) in the body using a small tissue explant from the patients own skin and processed to continuously produce EPO. Each EPODURE Biopump is subsequently implanted subcutaneously into the patient aiming to provide continuous delivery of EPO.

About The European Society of Gene and Cell Therapy (ESGCT)

The European Society of Gene and Cell Therapy (ESGCT) promotes basic and clinical research in gene therapy, cell therapy and genetic vaccines by facilitating education, the exchange of information and technology and by serving as a professional adviser to stakeholder communities and regulatory bodies in Europe.

About Medgenics

Medgenics is developing and commercializing Biopump, a proprietary tissue-based platform technology for the sustained production and delivery of therapeutic proteins using the patient's own tissue for the treatment of a range of chronic diseases including anemia and hepatitis, among others. For more information, please visit http://www.medgenics.com.

Forward-looking Statements

This release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, Section 21E of the Securities Exchange Act of 1934 and as that term is defined in the Private Securities Litigation Reform Act of 1995, which include all statements other than statements of historical fact, including (without limitation) those regarding the Company's financial position, its development and business strategy, its product candidates and the plans and objectives of management for future operations. The Company intends that such forward-looking statements be subject to the safe harbors created by such laws. Forward-looking statements are sometimes identified by their use of the terms and phrases such as "estimate," "project," "intend," "forecast," "anticipate," "plan," "planning, "expect," "believe," "will," "will likely," "should," "could," "would," "may" or the negative of such terms and other comparable terminology. All such forward-looking statements are based on current expectations and are subject to risks and uncertainties. Should any of these risks or uncertainties materialize, or should any of the Company's assumptions prove incorrect, actual results may differ materially from those included within these forward-looking statements. Accordingly, no undue reliance should be placed on these forward-looking statements, which speak only as of the date made. The Company expressly disclaims any obligation or undertaking to disseminate any updates or revisions to any forward-looking statements contained herein to reflect any change in the Company's expectations with regard thereto or any change in events, conditions or circumstances on which any such statements are based. As a result of these factors, the events described in the forward-looking statements contained in this release may not occur.

The rest is here:
Medgenics to Present Poster at European Society of Gene and Cell Therapy Congress to Highlight Results from Second ...

Recommendation and review posted by Bethany Smith

Tom Avril, Inquirer Staff Writer Posted: Wednesday, October 23, 2013, 2:01 AM

Children's Hospital of Philadelphia has invested $50 million in a new biotech start-up that seeks to be the nation's first commercial provider of gene therapy, company officials announced Tuesday.

Spark Therapeutics will assume control over two clinical trials that originated at the prominent teaching hospital - one in which patients with a rare form of blindness already have regained some vision, the other an early-stage effort to treat hemophilia B.

Jeffrey D. Marrazzo, Spark's CEO, said the goal was to tackle still more genetic diseases in the future, including other rare forms of blindness, blood disorders, and two neurodegenerative diseases that he declined to identify.

Children's Hospital has spun off companies before with the involvement of other investors, but this marks the hospital's first foray as a primary source of start-up funds, said hospital CEO Steven M. Altschuler.

The move marks a coming-of-age moment for gene therapy - the concept of treating disease by replacing or correcting faulty genes. Confined to the realm of research for decades, it now appears headed to the clinic on multiple fronts.

A gene-therapy treatment called Glybera has been approved in Europe for treatment of lipoprotein lipase deficiency, an affliction marked by increased levels of fat in the blood. And earlier this year, a Cambridge, Mass.-based gene-therapy company called bluebird bio Inc. raised more than $100 million in an initial public offering.

Gary J. Kurtzman, managing director for health care at Safeguard Scientifics, the Wayne-based technology and health-care investment company, said Spark's prospects looked promising. He cited the involvement of Children's Hospital researchers such as Katherine A. High, a primary force in the hemophilia and blindness trials and now one of Spark's scientific advisers.

"It's a bold move," Kurtzman said of the hospital's investment. "Based on the technology and the assets and the expertise that Dr. High and other people there have, I think it's a . . . very smart move."

Read the original:
Children's Hospital of Phila. funds gene-therapy company

Recommendation and review posted by Bethany Smith

Focus on Regenerative Medicine
http://www.ihealthtube.com http://www.facebook.com/ihealthtube Dr. Joel Baumgartner describes his philosophy behind his practice and how it may be different ...

By: iHealthTube.com

See the original post:
Focus on Regenerative Medicine - Video

Recommendation and review posted by sam

PUBLIC RELEASE DATE:

22-Oct-2013

Contact: Eileen Leahy e.leahy@elsevier.com 732-238-3628 Elsevier Health Sciences

San Francisco, CA, October 22, 2013 A study performed at Children's Hospital Los Angeles found no evidence that stem cell therapy improves vision for children with optic nerve hypoplasia (ONH). Their results are reported in the Journal of the American Association for Pediatric Ophthalmology and Strabismus (AAPOS).

ONH, an underdevelopment of optic nerves that occurs during fetal development, may appear either as an isolated abnormality or as part of a group of disorders characterized by brain anomalies, developmental delay, and endocrine abnormalities. ONH is a leading cause of blindness in children in North America and Europe and is the only cause of childhood blindness that shows increasing prevalence. No treatments have been shown to improve vision in these children.

With no viable treatment options available to improve vision, ophthalmologists are becoming aware that families with children affected by ONH are travelling to China seeking stem cell therapy, despite lack of approval in the United States and Europe or evidence from controlled trials. The American Association for Pediatric Ophthalmology and Strabismus has also expressed its concern about these procedures. In response to this situation, pediatric neuro-ophthalmologist Mark Borchert, MD, Director of both the Eye Birth Defects and Eye Technology Institutes in The Vision Center at Children's Hospital Los Angeles, realized that a controlled trial of sufficient size was needed to evaluate whether stem cell therapy is effective at improving optic nerve function in children with ONH. He agreed to conduct an independent study when asked by Beike Biotech, a company based in Shenzhen, China, that offers treatment for ONH using donor umbilical cord stem cells injected into the cerebral spinal fluid.

Beike Biotech agreed to identify 10 children with bilateral ONH (ages 7-17 years) who had volunteered to travel to China for stem cell therapy and who agreed to participate in the study; Children's Hospital was to find case matched controls from their clinic. However, only two case-controlled pairs were evaluated because Beike Biotech was only able to recruit two patients. Treatments consisted of six infusions over a 16-day period of umbilical cord-derived mesenchymal stem cells and daily infusions of growth factors. Visual acuity, optic nerve size, and sensitivity to light were to be evaluated one month before stem cell therapy and three and nine months after treatment.

No therapeutic effect was found in the two case-control pairs that were enrolled. "The results of this study show that children greater than 7 years of age with ONH may have spontaneous improvement in vision from one examination to the next. This improvement occurs equally in children regardless of whether or not they received treatment. Other aspects of the eye examination included pupil responses to light and optic nerve size; these did not change following treatment. The results of this research do not support the use of stem cells in the treatment of ONH at this time," says lead author Cassandra Fink, MPH, program administrator at The Vision Center, Children's Hospital Los Angeles.

Confounding the trial was that subjects received additional alternative therapies (acupuncture, functional electrical stimulation, and exercise) while receiving stem cell treatments, which was contrary to the trial protocol. The investigators could not determine the effect of these additional therapies.

"This study underscores the importance of scientifically testing these procedures to validate them and also to ensure their safety. Parents of afflicted children should be aware that the science behind the use of stem cell technology is unclear. This study takes a step toward testing this technology and finds no beneficial effect," says William V. Good, MD, Senior Associate Editor, Journal of AAPOS and Clinical Professor of Ophthalmology and Senior Scientist at the Smith-Kettlewell Eye Research Institute.

The rest is here:
No evidence to support stem cell therapy for pediatric optic nerve hypoplasia

Recommendation and review posted by Bethany Smith