Exome Sequencing News and Research

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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

Comprehensive data analysis and interpretation offered to customers as a result of collaboration between ATLAS Biolabs and Ingenuity systems

ATLAS Biolabs and Ingenuity® Systems have signed a collaboration agreement that gives ATLAS Biolabs’ customers the option to analyse and interpret their study data using Ingenuity solutions.

19 Jun 2012

Exome sequencing may also improve diagnoses and guide individual patient care

In the June 13 issue of Science Translational Medicine, an international team led by researchers from the University of California, San Diego School of Medicine reports that the new technology of exome sequencing is not only a promising method for identifying disease-causing genes, but may also improve diagnoses and guide individual patient care.

14 Jun 2012

UCLA research projects aim to improve lives of children with serious illnesses

New hope for deadly pediatric brain tumors; opening the door to improved diagnosis and treatment of epilepsy in children; and advanced genetic testing to better understand the causes of autism and cancer in kids. These research projects are currently underway at Mattel Children's Hospital UCLA under the umbrella of the UCLA Children's Discovery and Innovation Institute (CDI), and aim to dramatically improve the lives of children with serious illnesses.

31 May 2012

Study uncovers distinct subtype of prostate cancer

A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical College, the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute.

21 May 2012

Rare DNA variations may be responsible for differences in susceptibility to common disorders

One-letter switches in the DNA code occur much more frequently in human genomes than anticipated, but are often only found in one or a few individuals. The abundance of rare variations across the human genome is consistent with the population explosion of the past few thousand years, medical geneticists and evolutionary biologists report in the May 17 advanced online edition of Science.

19 May 2012

Researchers discover two defective genes that cause auriculocondylar syndrome

Researchers at Seattle Children's Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the child to breathe or eat properly without reparative surgery.

4 May 2012

Scientists identify first gene associated with congenital asplenia

Researchers at Weill Cornell Medical College and Rockefeller University have identified the first gene to be linked to a rare condition in which babies are born without a spleen, putting those children at risk of dying from infections they cannot defend themselves against. The gene, Nkx2.5, was shown to regulate genesis of the spleen during early development in mice.

4 May 2012

Fragile-X gene linked with disrupting de novo mutations in children with autism

A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research today indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein generated by the gene FMR1, whose dysfunction causes Fragile-X syndrome.

26 Apr 2012

New technique reveals another piece of spectrum's genetic architecture

There is little argument among experts that autism spectrum disorders (ASD), complex developmental disabilities that vary widely in their severity, are caused by both genetic and environmental factors. Advances in genome sequencing now permit scientists to uncover specific mutations in DNA that are associated with ASD at unprecedented resolution. Such data are vital to understanding the genetic basis of the disorder.

6 Apr 2012

CHD8, SNC2A and KATNAL2 gene mutations lead to ASDs

Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. All three studies include lead investigators of the Autism Sequencing Consortium.

5 Apr 2012

XRCC2 gene mutations cause increased breast cancer risk

Mutations in a gene called XRCC2 cause increased breast cancer risk, according to a study published today in the American Journal of Human Genetics. The study looked at families that have a history of the disease but do not have mutations in the currently known breast cancer susceptibility genes.

30 Mar 2012

GUCY2C gene mutation leads to familial diarrhea syndrome

When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic components such as irritable bowel syndrome. Researchers in Norway, India, and at the HudsonAlpha Institute for Biotechnology have identified one heritable DNA mutation that leads to chronic diarrhea and bowel inflammation.

22 Mar 2012

Ingenuity Variant Analysis and iReport selected for Weill Cornell sequencing core facility

Ingenuity Systems, a leading provider of information and analysis solutions for life science researchers, today announced that the Weill Cornell Medical College has chosen Ingenuity Variant Analysis and Ingenuity iReport for use in its sequencing core facility.

19 Mar 2012

WUSTL scientists to decode DNA of 99 patients with rare diseases

Rare genetic diseases, long overlooked because they affect relatively few people, are getting new attention. Scientists at Washington University School of Medicine in St. Louis are reaching out to patient advocacy groups and offering to decode the DNA of 99 patients with rare diseases to help find the genetic alterations responsible for their illnesses.

3 Mar 2012