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Mount Sinai scientists receive NIH grant to study clinical benefit of IGF-1 in children with PMS

Scientists at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai have received a grant from the National Institutes of Health to study Insulin-Like Growth Factor-1, a promising treatment for a subtype of autism called Phelan McDermid Syndrome.

27 Aug 2013

New bioinformatics software tool to identify genetic mutations responsible for cancers

Researchers at the Medical College of Wisconsin (MCW) have developed a new bioinformatics software tool designed to more easily identify genetic mutations responsible for cancers. The tool, called DrGaP, is the subject of a new paper published in the American Journal of Human Genetics.

27 Aug 2013

Study: Structural defect in skin cells can contribute to allergy development

In a new study published in Nature Genetics, Northwestern Medicine and Tel Aviv University scientists have found that a structural defect in skin cells can contribute to allergy development, including skin and food allergies, traditionally thought primarily to be a dysfunction of the immune system.

27 Aug 2013

Scientists receive NIH grant to study commercially-available drug for treatment of PMS

Scientists at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai have received a grant from the National Institutes of Health (NIH) to study Insulin-Like Growth Factor-1 (IGF-1), a promising treatment for a subtype of autism called Phelan McDermid Syndrome (PMS).

26 Aug 2013

Researchers discover additional cystic fibrosis-causing mutations

Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis, it is unclear how many of them actually contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious. In so doing, they have increased the number of known CF-causing mutations from 22 to 127, accounting for 95 percent of the variations found in patients with CF.

26 Aug 2013

Study compares spectrum of cancer-related gene mutations in two common types of cervical cancer

A new study has revealed marked differences in the genomic terrain of the two most common types of cervical cancer, suggesting that patients might benefit from therapies geared to each type's molecular idiosyncrasies.

26 Aug 2013

Model including dozens of mutations helps clarify genetic factors involved in Crohn's disease

A statistical model accounting for dozens of different genes in combination-and the interactions between them-is an important step forward in understanding the genetic factors affecting the risk of Crohn's disease (CD), reports a study in Inflammatory Bowel Diseases, official journal of the Crohn's & Colitis Foundation of America (CCFA). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

26 Aug 2013

DeNovoGear software uses statistical probabilities to help identify genetic mutations

Concealed within the vastness of the human genome, (comprised of some 3 billion base pairs), mutations are commonplace. While the majority of these appear to have neutral effect on human health, many others are associated with diseases and disease susceptibility.

26 Aug 2013

Scientists discover that chromosomal rearrangements can be advantageous

In a pioneer study published in the latest issue of the scientific journal Nature Communications, a research team at the Instituto Gulbenkian de Ci-ncia (IGC; Portugal), led by Miguel Godinho Ferreira in collaboration with Isabel Gordo, show for the first time that chromosomes rearrangements (such as inversions or translocations) can provide advantages to the cells that harbor them depending on the environment they are exposed.

23 Aug 2013

Seven researchers to receive grants from ASTRO to advance radiation oncology research

The American Society for Radiation Oncology (ASTRO) has selected seven (7) leading researchers who will receive a total of $675,000 in awards and grants to advance radiation oncology research.

23 Aug 2013

MC1R mutation responsible for red hair phenotype also promotes cancer-causing pathway

A person's skin pigment, which determines hair color and skin tone, is influenced by the melanocortin-1 (MC1R) gene receptor. For the population's one to two percent of redheads, a mutation in MC1R accounts for their red hair color and typical light skin.

23 Aug 2013

Psychogenics Picks Up Alzheimer’s Animal Model From USF

PsychoGenics obtained an exclusive license from the University of South Florida to its APP/PS1 double transgenic mice, which co-express the M146L presenilin 1 (PS1) mutation and the double mutations at K670N/M671L (Swedish mutation) in the amyloid precursor protein (APP).

22 Aug 2013

New focus on long-term effects of Fukushima Daiichi nuclear disaster

The Fukushima Daiichi nuclear disaster spread significant radioactive contamination over more than 3500 square miles of the Japanese mainland in the spring of 2011. Now several recently published studies of Chernobyl, directed by Timothy Mousseau of the University of South Carolina and Anders M-ller of the Universit- Paris-Sud, are bringing a new focus on just how extensive the long-term effects on Japanese wildlife might be.

22 Aug 2013

Scientists reveal why TB is a successful pathogen

By any measure, tuberculosis is a wildly successful pathogen. It infects as many as two billion people in every corner of the world, with a new infection of a human host estimated to occur every second.

22 Aug 2013

Study: Mother's mitochondrial DNA seems to influence our own aging

As we age, our cells change and become damaged. Now, researchers at Karolinska Institutet and the Max Planck Institute for Biology of Aging have shown that aging is determined not only by the accumulation of changes during our lifetime but also by the genes we acquire from our mothers.

22 Aug 2013

UC Davis Health System develops new screening strategy for lethal stage of TB in Asia

More than 20,000 people in Pakistan are being tested for the potentially deadly stage of tuberculosis using a new strategy developed at UC Davis Health System to effectively detect the disease in children for the first time.

22 Aug 2013

Twice-daily KALYDECO improves lung function in people with cystic fibrosis

Vertex Pharmaceuticals (Australia) Pty Ltd., announces the presentation of data from KALYDECO (ivacaftor) studies at the 10th Australasian Cystic Fibrosis Conference in Auckland, New Zealand, August 17 – 20, 2013, which further demonstrate the benefits of the medicine in people with cystic fibrosis ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator gene.

21 Aug 2013

Research suggests gene therapy approach may be feasible option to treat Rett Syndrome

The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. New research published today in the Journal of Neuroscience suggests this approach may eventually be a feasible option to treat Rett Syndrome, the most disabling of the autism spectrum disorders.

21 Aug 2013

Study shows complement activation plays an important role in inherited macular degeneration

In a study published on line this week in the journal Human Molecular Genetics, Drs. Donita Garland, Rosario Fernandez-Godino, and Eric Pierce of the Ocular Genomics Institute at the Massachusetts Eye and Ear, Harvard Medical School, along with their colleagues, reported the unexpected finding that in mice genetically engineered to have an inherited form of macular degeneration, turning off the animals' complement system, a part of the immune system, prevented the disease.

20 Aug 2013

Researchers create mouse models to advance the study of unusual deadly diseases

By directly manipulating a portion of the prion protein-coding gene, Whitehead Institute researchers have created mouse models of two neurodegenerative diseases that are fatal in humans. The highly accurate reproduction of disease pathology seen with these models should advance the study of these unusual but deadly diseases.

20 Aug 2013

Mutation News and Research

Mount Sinai scientists receive NIH grant to study clinical benefit of IGF-1 in children with PMS

New bioinformatics software tool to identify genetic mutations responsible for cancers

Study: Structural defect in skin cells can contribute to allergy development

Scientists receive NIH grant to study commercially-available drug for treatment of PMS

Researchers discover additional cystic fibrosis-causing mutations

Study compares spectrum of cancer-related gene mutations in two common types of cervical cancer

Model including dozens of mutations helps clarify genetic factors involved in Crohn's disease

DeNovoGear software uses statistical probabilities to help identify genetic mutations

Scientists discover that chromosomal rearrangements can be advantageous

Seven researchers to receive grants from ASTRO to advance radiation oncology research

MC1R mutation responsible for red hair phenotype also promotes cancer-causing pathway

Psychogenics Picks Up Alzheimer’s Animal Model From USF

New focus on long-term effects of Fukushima Daiichi nuclear disaster

Scientists reveal why TB is a successful pathogen

Study: Mother's mitochondrial DNA seems to influence our own aging

UC Davis Health System develops new screening strategy for lethal stage of TB in Asia

Twice-daily KALYDECO improves lung function in people with cystic fibrosis

Research suggests gene therapy approach may be feasible option to treat Rett Syndrome

Study shows complement activation plays an important role in inherited macular degeneration

Researchers create mouse models to advance the study of unusual deadly diseases

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