Exome Sequencing News and Research

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Researchers identify mutations in new genes that might be associated with ALS disease

Researchers at the Stanford University School of Medicine have identified mutations in several new genes that might be associated with the development of spontaneously occurring cases of the neurodegenerative disease known as amyotrophic lateral sclerosis, or ALS.

27 May 2013

New therapeutic targets for infantile myofibromatosis

Two mutations central to the development of infantile myofibromatosis -a disorder characterized by multiple tumors involving the skin, bone, and soft tissue-may provide new therapeutic targets, according to researchers from the Icahn School of Medicine at Mount Sinai.

26 May 2013

New GWA can pose major ethical problems if used incorrectly, say ESHG recommendations

The use of genome-wide analysis, where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease.

17 May 2013

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.

10 May 2013

UA researchers discover genetic mutations that cause severe epilepsies in children

Researchers at the University of Arizona have successfully determined the genetic mutations causing severe epilepsies in seven out of 10 children for whom the cause of the disorder could not be determined clinically or by conventional genetic testing.

9 May 2013

Researchers identify genetic mutations that appear to underlie rare syndrome

Researchers from Massachusetts General Hospital and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia - a lack of muscle coordination - and dementia.

9 May 2013

Phase I results show Rogosertib is well tolerated in patients with advanced solid tumors

Results of a phase 1 clinical trial reported at the American Association for Cancer Research (AACR) annual conference show that orally administered Rigosertib is well tolerated in patients with advanced solid tumors.

10 Apr 2013

Gene variations can predispose people to chemotherapy-induced peripheral neuropathy

Seemingly benign differences in genetic code from one person to the next could influence who develops side effects to chemotherapy, a Mayo Clinic study has found.

10 Apr 2013

TGen to present scientific benefits of whole genome sequencing at myeloma workshop

The scientific benefits of whole genome sequencing at the Translational Genomics Research Institute will be presented at the 14th International Myeloma Workshop, April 3-7 at the Kyoto International Conference Center.

4 Apr 2013

NanoVelcro chip device can help identify cancerous cells for treating prostate cancer

A research team jointly led by scientists from Cedars-Sinai Medical Center and the University of California, Los Angeles, have enhanced a device they developed to identify and "grab" circulating tumor cells, or CTCs, that break away from cancers and enter the blood, often leading to the spread of cancer to other parts of the body.

2 Apr 2013

ACMG issues recommendations on handling of incidental findings in clinical genome, exome sequencing

In a highly anticipated report, landmark recommendations on the handling of incidental findings in clinical genome and exome sequencing are being issued from the American College of Medical Genetics and Genomics.

22 Mar 2013

CPF and PFF to partner with ATS to fund pulmonary fibrosis research

The Coalition for Pulmonary Fibrosis, the Pulmonary Fibrosis Foundation, and the American Thoracic Society-the world's leading professional organization for pulmonary, critical care and sleep medicine-today announced that the CPF and the PFF will again partner with the ATS to fund pulmonary fibrosis research.

21 Mar 2013

Online database is speeding the search for diseases caused by rogue gene

A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene.

20 Mar 2013

Clonal evolution explains unpredictable leukemia disease course

Scientists have revealed the complicated clonal evolution of chronic lymphocytic leukemia, giving insight into the variation in disease course and its response to treatment.

19 Feb 2013

Investigators discover two new genes associated with severe early-onset disorders of heart rhythm

A team led by Vanderbilt University investigators has discovered two new genes - both coding for the signaling protein calmodulin - associated with severe early-onset disorders of heart rhythm.

7 Feb 2013

One-step, off-the-shelf tool can help evaluate genetic cause of mitochondrial diseases

More powerful gene-sequencing tools have increasingly been uncovering disease secrets in DNA within the cell nucleus. Now a research team is expanding those rapid next-generation sequencing tests to analyze a separate source of DNA—within the genes inside mitochondria, cellular power plants that, when abnormal, contribute to complex, multisystem diseases.

29 Jan 2013

Five genes hold key to meningioma make up

Research published in Science shows that mutations in five genes characterize most meningiomas.

28 Jan 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

Researchers pinpoint several inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism.

23 Jan 2013

Health, science and genetics reporters invited to register now for ACMG annual genetics meeting

Health, science and genetics reporters are invited to register now for the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, March 19-23, 2013 at the Phoenix Convention Center.

16 Jan 2013