Exome Sequencing News and Research

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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

‘PapGene’ test detects endometrial and ovarian cancers

Researchers have adapted the papanicolaou smear test currently used to detect cervical cancer so that it can be used to screen women for endometrial and ovarian cancers.

14 Jan 2013

JAMA column outlines need for frozen, larger specimens in DNA-sequencing era

Genetic sequencing technology is altering the way cancer is diagnosed and treated, but traditional specimen handling methods threaten to slow that progress.

7 Jan 2013

Genomic technology revolutionizes gene discovery and disease understanding in autism

Genomic technology has revolutionized gene discovery and disease understanding in autism, according to an article published in the December 20 issue of the journal Neuron.

20 Dec 2012

Review describes current state of lung cancer care

A review in the December issue of the journal Archives of Pathology & Laboratory Medicine by Paul Bunn Jr, MD, University of Colorado Cancer Center investigator and past president of ASCO, IASLC and AACI describes the current state of lung cancer care.

12 Dec 2012

Researchers discover new gene for susceptibility to Alzheimer's disease

A large-scale international study involving French researchers from the Inserm-Institut Pasteur Lille-Universit- Lille Nord de France "Public health and molecular epidemiology of ageing-related diseases" joint research unit led by Philippe Amouyel, has just discovered a gene for susceptibility to a rare disease that causes susceptibility to a common one, Alzheimer's disease, providing evidence of the heterogeneous aetiology of Alzheimer's disease.

20 Nov 2012

Researchers sequence the DNA of 6,700 exomes of cystic fibrosis patients

A multi-institutional team of researchers has sequenced the DNA of 6,700 exomes, the portion of the genome that contains protein-coding genes, as part of the National Heart, Lung and Blood Institute (NHLBI)-funded Exome Sequencing Project, one of the largest medical sequencing studies ever undertaken.

7 Nov 2012

Researchers identify genes linked to serous endometrial cancer

Researchers have identified several genes that are linked to one of the most lethal forms of uterine cancer, serous endometrial cancer.

29 Oct 2012

RMND1 gene mutations responsible for severe neurodegenerative disorders

Scientists at the Montreal Neurological Institute and Hospital - The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.

10 Oct 2012

New spontaneous genetic mutations play a significant role in schizophrenia

Columbia University Medical Center (CUMC) researchers have identified dozens of new spontaneous genetic mutations that play a significant role in the development of schizophrenia, adding to the growing list of genetic variants that can contribute to the disease.

4 Oct 2012

Intellectual disability often results from genetic causes that are not inherited

New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children.

28 Sep 2012

BGI Tech achieves whole exome sequencing analysis of total degraded DNA from FFPE samples

BGI Tech Solutions Co., Ltd., a subsidiary company of BGI, announced today that they have achieved whole exome sequencing analysis of total degraded DNA as low as 200 ng from formalin fixed paraffin embedded (FFPE) samples.

19 Sep 2012

MVK mutations linked to disseminated superficial actinic porokeratosis

A Chinese research team, led by Anhui Medical University and BGI, has found the strong genetic evidences of mevalonate kinase gene (MVK) mutations link to disseminated superficial actinic porokeratosis (DSAP).

17 Sep 2012

BCAA supplementation may treat autism and/or epilepsy

An international team of researchers, led by scientists at the University of California, San Diego and Yale University schools of medicine, have identified a form of autism with epilepsy that may potentially be treatable with a common nutritional supplement.

7 Sep 2012

Researchers discover gene mutations linked to spinocerebellar ataxia

A global hunt for the cause of a crippling inherited nerve disorder has found its target. The discovery opens the door for better diagnosis and treatment of this particular disease - but also for better understanding of why nerves in the brain's movement-controlling center die, and how new DNA-mapping techniques can find the causes of other diseases that run in families.

13 Aug 2012

Researchers isolate elusive human gene that causes NMNAT1-related Leber congenital amaurosis

Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1.

30 Jul 2012

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Researchers have identified a genetic underpinning of Wiedemann-Steiner syndrome.

23 Jul 2012

Research finds new single-gene cause of chronic kidney disease

A new single-gene cause of chronic kidney disease has been discovered that implicates a disease mechanism not previously believed to be related to the disease, according to new research from the University of Michigan.

11 Jul 2012