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Researchers use pioneering stem cell techniques to better understand causes of Spinal Muscular Atrophy

New research from the Advanced Gene and Cell Therapy Lab at Royal Holloway, University of London has used pioneering stem cell techniques to better understand why certain cells are more at risk of degenerating in Spinal Muscular Atrophy than others.

1 Jul 2015

UVA Health System opens high-tech clinical genomics lab

The University of Virginia Health System has opened a high-tech clinical genomics lab that will personalize care for patients, help doctors determine the best treatments for cancers and other diseases, and allow UVA to offer the most cutting-edge clinical trials.

1 Jul 2015

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

The American Society of Human Genetics (ASHG) has named Robert L. Nussbaum, M.D., chief medical officer of invitae and clinical professor of medicine (volunteer) at the University of California, San Francisco (UCSF); Roderick R. McInnes, CM, M.D., Ph.D., director of the Lady Davis Institute at the Jewish General Hospital and Alva chair in human genetics, Canada Research chair in neurogenetics, and professor of human genetics and biochemistry at McGill University; and Huntington F. Willard, Ph.D., president and director of the Marine Biological Laboratory and professor of human genetics at the University of Chicago; as the 2015 recipients of its annual Award for Excellence in Human Genetics Education.

1 Jul 2015

Dietary fat intake could potentially ease mitochondrial disease, shows research

Mice that have a genetic version of mitochondrial disease can easily be mistaken for much older animals by the time they are nine months old: they have thinning grey hair, osteoporosis, poor hearing, infertility, heart problems and have lost weight. Despite having this disease at birth, these mice have a "secret weapon" in their youth that staves off signs of aging for a time.

1 Jul 2015

Spouses & Relatives Of Celiac Disease Patients At Risk For Autoimmune Diseases

Both spouses and first-degree relatives of patients with celiac disease are at increased risk of nonceliac autoimmune disease, according to a study in the July issue of Clinical Gastroenterology and Hepatology, the official clinical practice journal of the American Gastroenterological Association. This risk represents a mixture of genetic, environmental and ascertainment bias mechanisms.

1 Jul 2015

Blue-eyed individuals may have greater chance of becoming alcoholics

People with blue eyes might have a greater chance of becoming alcoholics, according to a unique new study by genetic researchers at the University of Vermont.

1 Jul 2015

Study supports need for diagnostic analysis of germline and tumor biomarker information

A core tenet of precision medicine is that predictive biomarkers can enhance therapeutic decision-making. In a new pilot study, scientists at Molecular Health analyzed a randomly selected set of 250 patients with solid tumors and detected predictive biomarkers in more than 85% of tumors.

30 Jun 2015

Kalorama Information: NGS diagnostics can detect any number of genetic variants

Next generation sequencing may be able to bypass some of the downside of molecular testing and in doing so earn its place in clinical testing, according to Kalorama Information.

30 Jun 2015

TSRI scientists find five different miRNAs involved in memory formation

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have found that a type of genetic material called “microRNA” plays surprisingly different roles in the formation of memory in animal models. In some cases, these RNAs increase memory, while others decrease it.

30 Jun 2015

Researchers explore why some mutations can cause severe disease in humans, but benign in animals

Researchers at Duke University School of Medicine and Brigham and Women's Hospital, Harvard Medical School have identified a mechanism that explains why some mutations can be disease-causing in one genome but benign in another.

30 Jun 2015

Imperial College London researchers discover new inherited form of obesity, type 2 diabetes

Scientists have discovered a new inherited form of obesity and type 2 diabetes in humans. A large number of genes are involved in regulating body weight, and there are now over 30 genes known in which people with harmful changes in DNA sequence become extremely overweight. Similarly, there are a number of genes that can, when altered, cause type 2 diabetes. These conditions are inherited through families in exactly the same way as disorders such as cystic fibrosis or Huntington's disease.

30 Jun 2015

Researchers identify better way to screen for lung cancer

The Valley Hospital in Ridgewood, NJ, is pleased to announce that two of its oncologists and a research scientist are helping pave the way to an easier, more accurate, less invasive way to screen for the most common form of lung cancer. Lung cancer is the most common cancer in men worldwide and the number one cancer killer in the United States.

30 Jun 2015

Scientists develop high-throughput strategy to build de novo genomes

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled researchers to detect complex forms of genomic variation, critically important for their association with human disease, but previously difficult to detect.

30 Jun 2015

Study could point the way to new treatments for people with severe asthma

The immune response that occurs in patients with severe asthma is markedly different than what occurs in milder forms of the lung condition, according to researchers from the University of Pittsburgh School of Medicine. Those unique features could point the way to new treatments, they said in an article published online today in the Journal of Clinical Investigation.

30 Jun 2015

Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Canada's first human gene therapy trial for eyes -- the replacement of a faulty gene with a healthy one -- is now underway at the Royal Alexandra Hospital to preserve and potentially restore vision for people with a genetic disorder that leaves them blind by middle age.

30 Jun 2015

Study on fruit flies, brewer's yeast may provide clues about cause of Spinal Muscular Atrophy

Scientists at the University of Malta and the Institut de Génétique Moléculaire de Montpellier (CNRS/Université de Montpellier) have shown that fruit flies and brewer's yeast can reveal clues about the cause of Spinal Muscular Atrophy (SMA), the most common genetic killer of infants.

30 Jun 2015

Amphetamine-based drug Evekeo effective in treating ADHD symptoms in children

The amphetamine-based drug Evekeo, given once or twice daily to children 6-12 years of age, is effective in treating attention-deficit/hyperactivity disorder (ADHD) symptoms and improving performance in a laboratory classroom setting, according to the results of a new study published in the Journal of Child and Adolescent Psychopharmacology, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

30 Jun 2015

Kay E. Davies named recipient of ASHG's 2015 William Allan Award

The American Society of Human Genetics has named Kay E. Davies, DPhil, Dr. Lee's professor of anatomy, associate head of the medical sciences division; and director of the Medical Research Council Functional Genomics Unit in the department of physiology, anatomy and genetics at the University of Oxford, the 2015 recipient of the annual William Allan Award.

30 Jun 2015

Study may lead to better treatments for children with neuroblastoma

Researchers studying the pediatric cancer neuroblastoma have detailed how cancer-driving mutations evolve during chemotherapy, and they hope to exploit this knowledge to design better treatments for children.

30 Jun 2015

Rare genetic variants in A2ML1 gene responsible for chronic middle ear infections, say researchers

Many parents have heard the night-time cry of "my ear hurts." For some children, this might happen frequently beginning in infancy and even persist into adulthood. An international consortium led by those at Baylor College of Medicine may have taken the first step on the road to understanding why only some people get frequent painful or chronic middle ear infections. The culprit may be rare genetic variants in a gene called A2ML1.

30 Jun 2015

Genetic News and Research

Researchers use pioneering stem cell techniques to better understand causes of Spinal Muscular Atrophy

UVA Health System opens high-tech clinical genomics lab

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

Dietary fat intake could potentially ease mitochondrial disease, shows research

Spouses & Relatives Of Celiac Disease Patients At Risk For Autoimmune Diseases

Blue-eyed individuals may have greater chance of becoming alcoholics

Study supports need for diagnostic analysis of germline and tumor biomarker information

Kalorama Information: NGS diagnostics can detect any number of genetic variants

TSRI scientists find five different miRNAs involved in memory formation

Researchers explore why some mutations can cause severe disease in humans, but benign in animals

Imperial College London researchers discover new inherited form of obesity, type 2 diabetes

Researchers identify better way to screen for lung cancer

Scientists develop high-throughput strategy to build de novo genomes

Study could point the way to new treatments for people with severe asthma

Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Study on fruit flies, brewer's yeast may provide clues about cause of Spinal Muscular Atrophy

Amphetamine-based drug Evekeo effective in treating ADHD symptoms in children

Kay E. Davies named recipient of ASHG's 2015 William Allan Award

Study may lead to better treatments for children with neuroblastoma

Rare genetic variants in A2ML1 gene responsible for chronic middle ear infections, say researchers

Sequencing & Genomics: Elevating Science and Healthcare eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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