Exome Sequencing News and Research

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Researchers identify brain somatic mutations linked to Alzheimer's disease

Researchers have identified somatic mutations in the brain that could contribute to the development of Alzheimer's disease. Their findings were published in the journal Nature Communications last week.

18 Jul 2019

Gene mutation discovery leads to novel treatment for patient with severe lymphatic condition

Faced with a preteen boy in pain and struggling to breathe from a severe, deteriorating rare condition, researchers at Children's Hospital of Philadelphia identified the responsible gene mutation and harnessed that knowledge to develop a novel treatment that dramatically improved the problem.

2 Jul 2019

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Scientists used a gene editing method called CRISPR/Cas9 to generate mice that faithfully mimic a fatal respiratory disorder in newborn infants that turns their lips and skin blue. The new laboratory model allowed researchers to pinpoint the ailment's cause and develop a potential and desperately needed nanoparticle-based treatment.

19 Jun 2019

Augusta vision scientist receives grant to learn more about keratoconus’ causes and treatments

It's an eye condition where genetics and environmental factors like ultraviolet light and vigorous eye rubbing conspire to make the usual curvature of the cornea more pointy, leaving us with double vision and nearsighted.

17 Jun 2019

Researchers one step closer to unmasking the cause of familial MS

A new study has uncovered mutations in 12 genes that may be responsible for the familial type of multiple sclerosis (MS).

7 Jun 2019

Researchers move closer to finding the root cause of MS

An international team of researchers led by the University of British Columbia has made a scientific advance they hope will lead to the development of preventative treatments for multiple sclerosis.

7 Jun 2019

Study identifies patterns of chronic lymphocytic leukemia growth

In patients with chronic lymphocytic leukemia, the rate of disease growth is apt to follow one of three trajectories: relentlessly upward, steadily level, or something in between, scientists at Dana-Farber Cancer Institute, the Broad Institute of MIT and Harvard, Massachusetts General Hospital, and the University of Washington report in a new study.

29 May 2019

Novel method for evaluating genomic sequencing results in newborn screening

Newborn screening is required in the U.S. and differs slightly depending on which state you live in. For the most part, it's done before a newborn baby leaves the hospital and includes a blood test that screens for 30-50 serious health problems that usually arise in infancy or childhood, and could hinder normal development.

26 May 2019

Large study links rare DNA alterations to type 2 diabetes

An international consortium of scientists has analyzed protein-coding genes from nearly 46,000 people, linking rare DNA alterations to type 2 diabetes.

23 May 2019

Genomics study reveals five genes linked to treatment resistance in prostate cancer

A new genomics study has found that men are three times more likely to die from prostate cancer if they possess mutations the retinoblastoma 1 (RB1) gene.

8 May 2019

Researchers identify genetic component involved in development of familial sarcoidosis

Working with their colleagues from the University of Lyon, researchers from MedUni Vienna's Center for Pathobiochemistry and Genetics have discovered mutations in genes that regulate the metabolic sensor mTOR in patients with familial sarcoidosis.

8 May 2019

CoGEN Congress 2019: Speakers' overviews

Update on the use of exome sequencing for the diagnosis of fetal abnormalities

2 May 2019

Researchers use genomics to solve a 20-year case study

After 20 years, a patient's family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after researchers found out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another.

28 Apr 2019

New genetic test identifies many disease-causing gene variations in high-risk populations

Researchers at Nemours Children's Health System have developed a new low-cost genetic test that accurately identified more than 200 known disease-causing gene variations in two high-risk populations, the Old Order Amish and Old Order Mennonites of Lancaster County, Pennsylvania.

25 Apr 2019

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