Exome Sequencing News and Research

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Researchers identify cause of inherited metabolic disorder

A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA mutation as the cause of an inherited metabolic disorder.

16 Apr 2019

Study identifies possible way to predict which melanomas are hot and cold

Melanomas tend to be "hot" or "cold" - if they're hot, immunotherapy lights melanoma tumors like beacons for elimination by the immune system; but 40-50 percent of melanomas are cold, making them invisible to the immune system, and patients with cold tumors tend to show little benefit from immunotherapies.

4 Apr 2019

DNAnexus launches innovative clinico-genomic cohort browser to accelerate research and discovery

DNAnexus, Inc., the leader in biomedical informatics and data management, today announced the addition of an innovative browser for clinico-genomic cohorts to its DNAnexus Apollo™ Platform, allowing for easy at-scale navigation and exploration on combined genotypic and phenotypic data.

12 Mar 2019

Researchers identify first genetic defect linked to biliary atresia

A nationwide consortium of researchers has identified the first genetic defect linked to biliary atresia, a mysterious liver disease that is the leading cause for liver transplantation in children.

5 Mar 2019

Genetic defect linked to pediatric liver disease identified

Researchers from the University of Colorado Anschutz Medical Campus, in collaboration with several other institutions, have discovered a genetic defect linked to Biliary atresia, the most common pediatric cause of end-stage liver disease, and the leading indication for liver transplantation in children.

21 Feb 2019

When genomic sequencing fails to diagnose a rare disease

Routine sequencing has given unprecedented insight into the genetics of rare diseases, but genomics fails to diagnose up to half of patients who are tested. That's the problem German scientists tackled in a recent study in the journal Molecular & Cellular Proteomics.

11 Feb 2019

Mapping mutations in esophageal cancer could improve treatment options

Mutations that cause oesophageal adenocarcinoma have been mapped in unprecedented detail - unveiling that more than half could be targeted by drugs currently in trials for other cancer types.

4 Feb 2019

Genetic testing improves diagnoses of abnormalities in developing babies

Genetic testing improves the diagnoses of abnormalities in developing babies that are picked up during ultrasound scans, scientists report today (31 January) in The Lancet.

1 Feb 2019

Researchers uncover first spontaneous animal model of human hypophosphatasia

A research group led by Professor Hannes Lohi at the University of Helsinki and Folkhälsan Research Center has uncovered a new skeletal disease in dogs.

30 Jan 2019

Scientists aim to find genetic causes of developmental abnormalities in the vagina and uterus

A percentage of females are born with a missing or underdeveloped vagina and uterus, and scientists are working to analyze the genes of hundreds of them to get a better idea about causes, improve genetic counseling and ideally treatment.

22 Jan 2019

Genetic testing can help personalize diagnosis and treatment of kidney disease, study shows

A new study has found that genes cause about 1 in 10 cases of chronic kidney disease in adults, and identifying the responsible gene has a direct impact on treatment for most of these patients.

26 Dec 2018

MUHC's 'Dr. House' discovers new genetic disease and the gene responsible for it

A team from the Research Institute of the McGill University Health Centre led by Dr. Donald Vinh, the RI's so-called "Dr. House" because of his research into rare diseases, has discovered a new human disease and the gene responsible for it, paving the way for the proper diagnosis of patients globally and the development of new therapies.

7 Dec 2018

New York State approves NYGC's Whole Genome and Transcriptome Sequencing for oncology

The New York Genome Center has received approval from the New York State Department of Health to offer whole genome and RNA transcriptome sequencing in its Clinical Laboratory Evaluation Program-certified laboratory.

29 Nov 2018

Gut protein mutations protect against spikes in blood glucose levels

Why is it that, despite consuming the same number of calories, sodium and sugar, some people face little risk of diabetes or obesity while others are at higher risk? A new study by investigators at Brigham and Women's Hospital has uncovered mutations in a gene that appear to help drive this difference.

21 Nov 2018

Researchers identify multisystem disorder caused by bi-allelic variants in CCDC47 gene

Researchers and clinicians through a multicenter collaboration have identified a novel multisystem disorder caused by bi-allelic variants in the CCDC47 gene. Their findings are reported in the American Journal of Human Genetics.

20 Nov 2018

Small populations of normal T cells could modify disease severity in patients with XLP1

Human SH2D1A mutations resulting in X-linked lymphoproliferative syndrome type 1 are associated with a unique susceptibility to the Epstein-Barr virus, which may lead to fatal infectious mononucleosis.

9 Nov 2018

Tracking down microRNA candidates linked to disease

What started as Ninad Oak's side project turned out into something much larger, his doctorate thesis. "The project started as my qualifying exam that I proposed at the end of my first year of graduate school," said Oak, a graduate student in molecular and human genetics in Dr. Sharon E. Plon's lab. "This was an off topic qualifying exam at the time, meaning the lab had not worked on this topic before."

7 Nov 2018

New genetic pathways associated with severe lung disease identified in extremely premature infants

Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago and colleagues identified promising new genetic pathways associated with severe lung disease in extremely premature infants, as well as pathways linked to faster recovery from lung disease in this population.

25 Oct 2018

Expert proposes new model to generate automated updates of genetic test results

Maybe the genetic test report your doctor ordered says your DNA contains many “variants of unknown significance.” Currently, up to 70 percent of such reports are negative or inconclusive.

4 Oct 2018

New project identifies immune checkpoint inhibition as potential treatment for angiosarcomas

Angiosarcoma Project, a patient-partnered genomics study, identified immune checkpoint inhibition as a potential treatment option for patients with angiosarcomas of the head, face, neck, or scalp, according to data presented at the fourth CRI-CIMT-EATI-AACR International Cancer Immunotherapy Conference.

1 Oct 2018