Whole Genome Sequencing News and Research

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COMPARE project aims to speed up global response to infectious disease outbreaks

A large EU project intends to speed up the detection of and response to disease outbreaks among humans and animals worldwide through the use of new genome technology. The aim is to reduce the impact and cost of disease outbreaks. To that end 28 European partners, including the Technical University of Denmark, have received more than 20 million euro in funding from the EU.

21 Jan 2015

Biogen Idec, Columbia University Medical Center form $30 million genomics research alliance

Biogen Idec and Columbia University Medical Center have formed a $30 million strategic alliance to conduct genetics discovery research on the underlying causes of disease and to identify new treatment approaches. As part of this agreement, a sequencing and analysis facility and shared postdoctoral program will be established at Columbia to support collaborative genetics studies.

11 Jan 2015

Two leading biotechnology companies collaborate to gain further understanding of Parkinson’s disease

This week 23andMe (a genetic testing company) and Genentech (medical research company of the Roche Group) agreed a collaboration to undertake whole genome sequencing for 3,000 patients with Parkinson’s disease. The genetic information will be collected by 23andMe and used by Genentech to identify new therapeutic targets for treating Parkinson’s disease.

9 Jan 2015

Researchers use whole genome sequencing to track evolution of chicken flu virus

An international research team has shown how changes in a flu virus that has plagued Chinese poultry farms for decades helped create the novel avian H7N9 influenza A virus that has sickened more than 375 people since 2013. The research appears in the current online early edition of the scientific journal Proceedings of the National Academy of Sciences.

30 Dec 2014

Whole-genome sequencing can identify patients' risk for hereditary cancer

UT Southwestern Medical Center cancer researchers have demonstrated that whole-genome sequencing can be used to identify patients' risk for hereditary cancer, which can potentially lead to improvements in cancer prevention, diagnosis, and care.

24 Dec 2014

HudsonAlpha buys Illumina HiSeq X Ten sequencing system

HudsonAlpha Institute for Biotechnology today announced it has purchased the HiSeq X Ten sequencing system manufactured by Illumina, Inc. The technology will enable HudsonAlpha to produce and analyze genomic data faster and at a lower cost. The purchase stems from the Institute's commitment to research programs for genomics excellence in patient care.

From Illumina, Inc. 14 Dec 2014

Promising anti-malarial compound uses novel mechanism to kill malaria parasite

An international research collaborative has determined that a promising anti-malarial compound tricks the immune system to rapidly destroy red blood cells infected with the malaria parasite but leave healthy cells unharmed. St. Jude Children's Research Hospital scientists led the study, which appears in the current online early edition of the Proceedings of the National Academy of Sciences.

5 Dec 2014

Maternal age and successful egg freezing with PGS: an interview with Dr. Santiago Munné

The leading cause of of pregnancy loss or infertility is chromosomal abnormality or imbalance, where extra genetic material is present or some is missing - what’s called aneuploidy. This imbalance leads to the inability to produce viable embryos or pregnancy.

2 Dec 2014

Study identifies genetic alterations that contribute to growth and recurrence of Ewing sarcoma

An international collaboration has identified frequent mutations in two genes that often occur together in Ewing sarcoma (EWS) and that define a subtype of the cancer associated with reduced survival.

13 Nov 2014

Researchers discover new genetic cause of rare, complex form of epilepsy

A research team led by scientists at the Scripps Translational Science Institute has used whole genome sequencing to identify a new genetic cause of a severe, rare and complex form of epilepsy that becomes evident in early childhood and can lead to early death.

7 Nov 2014

New study reveals link between aristolochic acid and kidney cancer

A new study on a large cohort of kidney cancer patients in Europe sheds light on the genetic architecture of the disease -- and reveals an apparent link between exposure to aristolochic acid and incidence of kidney cancer, particularly in Romania.

29 Oct 2014

Genetic differences contribute to risk for autism

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium, and published today in the journal Nature.

29 Oct 2014

High risk for congenital heart defects in Down syndrome provides tool to identify changes in genes

Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital heart defects. However, not all people with Down syndrome have them – about half have structurally normal hearts.

25 Oct 2014

Scientists use innovative exome sequencing strategy to identify new gene associated with ALS

Using an innovative exome sequencing strategy, a team of international scientists led by John Landers, PhD, at the University of Massachusetts Medical School has shown that TUBA4A, the gene encoding the Tubulin Alpha 4A protein, is associated with familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease.

23 Oct 2014

Cypher researchers identify new genetic cause of severe epileptic encephalopathy

Cypher Genomics, Inc., the genome informatics company, announced today the identification of de novo KCNB1 missense mutations as a novel genetic cause of severe epileptic encephalopathy. Cypher’s co-founder and Chief Scientific Officer Ali Torkamani, Ph.D. reviewed the data today at a platform presentation at the ASHG 2014 meeting being held October 18 to 22 in San Diego.

21 Oct 2014

New mutations in cat genome identified as causes of human eye diseases

Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative today announced groundbreaking discoveries of novel mutations in the cat genome found to correlate to two human eye diseases, retinitis pigmentosa and Leber's Congenital Amaurosis.

16 Oct 2014

Three institutions collaborate to study genetics of bipolar disorder, schizophrenia

Researchers at the University of Michigan School of Public Health and Medical School and collaborators at two other institutions will undertake the largest whole genome sequencing study funded to date, as they seek to better understand bipolar disorder and schizophrenia.

30 Sep 2014

Researchers awarded $16 million NIMH grant to create genetic resource for psychiatric disorders

A multi-institutional team of researchers studying schizophrenia and bipolar disorder has been awarded a $16 million grant from the National Institute of Mental Health to create the most extensive genetic resource to date for these two devastating psychiatric disorders, using data assembled by the University of Southern California.

26 Sep 2014

Researchers explore gene expression in normal vestibular nerves, vestibular schwannomas

Researchers from the University of Toronto, directed by Drs. Gelareh Zadeh and Boris Krischek, investigated gene expression in normal vestibular nerves and vestibular schwannomas (VSs).

24 Sep 2014

APOC3 gene variant dramatically reduces triglyceride levels in the blood

Research using data collected from around 4,000 healthy people in the UK has enabled scientists to identify a rare genetic variant that dramatically reduces levels of certain types of lipids in the blood. The study is the first to emerge from the UK10K Project's cohort of samples from the general public and demonstrates the power of whole genome sequencing at scale.

17 Sep 2014