Exome Sequencing News and Research

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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

Gene defect linked to cluster of systemic complications

Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome.

9 Jul 2012

DNA from CF patients with and without chronic infections points to unsuspected mutation

Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibly. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections.

9 Jul 2012

Researchers use maternal blood sample to sequence genome of an unborn baby

Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

5 Jul 2012

Researchers discover new gene mutations associated with megalencephaly

A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly.

30 Jun 2012

Inexpensive exome sequencing can quickly detect heterogeneous diseases

The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics.

25 Jun 2012

De novo somatic gene mutations likely to cause hemimegalencephaly

Hemimegalencephaly is a rare but dramatic condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though frequently diagnosed in children with severe epilepsy, the cause of hemimegalencephaly is unknown and current treatment is radical: surgical removal of some or all of the diseased half of the brain.

25 Jun 2012