Exome Sequencing News and Research

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Unlocking the first gene to cause otosclerosis: an interview with Dr Ralph Holme

Otosclerosis is a common cause of hearing loss, particularly amongst young adults. It normally starts in their 20s or 30s and it affects about 1 in 200 hundred people. In the UK, about 300,000 people are affected by the condition.

7 Jun 2016

Northwestern Medicine scientists link TMEM230 gene mutations to Parkinson's disease development

Northwestern Medicine scientists have discovered a new cause of Parkinson's disease -- mutations in a gene called TMEM230. This appears to be the third gene definitively linked to confirmed cases of the common movement disorder.

7 Jun 2016

Study provides better understanding of sequence of genetic events in colorectal cancer premalignancy

Whole-exome sequencing of both colorectal adenomas (precancers often called polyps) and intestinal mucosa at risk for developing into adenomas from patients with familial adenomatous polyposis (FAP) has generated a comprehensive picture of the genomic alterations that characterize the evolution of normal mucosa to precancer.

25 May 2016

Researchers identify mutations that may stimulate early cancer growth in precancerous colorectal tissue

Researchers at The University of Texas MD Anderson Cancer Center have discovered mutations that may fuel early cancer growth in precancerous colorectal tissue from high-risk patients.

24 May 2016

Expanding gene panel beyond known breast/ovarian cancer genes does not add any clinical benefit

Running large, multi-gene sequencing panels to assess cancer risk is a growing trend in medicine as the price of the technology declines and more precise approaches to cancer care gain steam. The tests are particularly common among breast and ovarian cancer patients. However, questions remain about the growing list of mutations and their suspected, but unproven association with breast and ovarian cancer risk.

6 May 2016

New study finds genetic overlap between bipolar disorder and autism

A new study suggests there may be an overlap between rare genetic variations linked to bipolar disorder (BD) and those implicated in schizophrenia and autism.

5 May 2016

CUMC researchers identify new neurodevelopmental syndrome

A multicenter research team led by Columbia University Medical Center has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

22 Apr 2016

Exome sequencing improves speed, accuracy of neurogenetic disorder diagnosis

UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly to better care for people with rare diseases like spinocerebellar ataxia, leukodsystrophy, spastic paraplegia and many other conditions.

6 Apr 2016

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

5 Apr 2016

New tool interprets whole-exome tumor sequencing data for better cancer therapies

A University of Colorado Cancer study published today in the Journal of the American Medical Informatics Association describes a new tool that interprets the raw data of whole exome tumor sequencing and then matches the cancer's unique genetics to FDA-approved targeted treatments.

30 Mar 2016

New MyGene2 web tool may help find genes influencing Mendelian disorders

A new web tool, MyGene2, will enable patients and their families to join clinicians and scientists in the search for genes underlying rare disorders. The sharing of health information also will improve knowledge about how gene variants influence symptoms and other clinical features of Mendelian disorders.

3 Mar 2016

Discovery highlights need to improve patient education about genomics

An overwhelming majority of people with incurable cancer want to hear findings from DNA sequencing of their own tumors and normal cells, and to learn how those results may affect their health and treatment options, Dana Farber Cancer Institute scientists report.

27 Feb 2016

Researchers reveal inherited genetic mutations associated with ovarian cancer risk

Previous research has established a link between genetic mutations in the BRCA1 and BRCA2 genes to an increased risk of developing ovarian, fallopian tube or peritoneal cancer in women.

11 Feb 2016

Temple team describes use of cadaver DNA to advance genetics learning in medical curriculum

Cadavers have long been one of the most important resources for anatomy teaching in medical school. Now, they are also at the forefront of cutting-edge genetics teaching, thanks to innovative thinking by professors at the Lewis Katz School of Medicine at Temple University.

10 Feb 2016

Genetic profiling ‘feasible’ for paediatric cancer patients

Research published in JAMA Oncology demonstrates that tumour and germline molecular profiling is feasible in paediatric cancer patients and can have actionable findings.

2 Feb 2016

Genetic mutations could help explain cause of cancer in pediatric patients

Combined whole exome tumor and blood sequencing in pediatric cancer patients revealed mutations that could help explain the cause of cancer or have the potential to impact clinical cancer care in 40 percent of patients in a study led by researchers from Baylor College of Medicine and Texas Children's Cancer Center.

29 Jan 2016

UAB's Undiagnosed Diseases Program finds answers for mysterious health issues

Stephanie and Christopher Smith have been on a long, difficult and often frustrating journey to find answers for the mysterious health issues of their children. It started 24 years ago when their third child, Gage, was born. Gage, his younger brother Aiden and then sister Mandalynn, now 13, all developed mysterious symptoms that mystified doctors.

29 Dec 2015

Research opens door to validation studies in multiple tumor types of liquid biopsy

Pancreatic cancer tumors spill their molecular secrets into the blood stream, shedding their complete DNA and RNA wrapped inside protective lipid particles that make them ripe for analysis with a liquid biopsy, researchers at The University of Texas MD Anderson Cancer Center report online at the Annals of Oncology.

18 Dec 2015

Many gene variants affect person's response to medication

In recent decades much hope was based on the development of personalised drug treatments, in which genetic tests determine the choice and optimal dose of medication for each individual patient. However, the real breakthrough is still to be seen, and now researchers at Karolinska Institutet show in two separate scientific papers that many more gene variants affect how a person responds to medication than previously thought - and thus that today's analytical tools are too coarse.

16 Dec 2015

Research reveals genetic variants linked to treatment-related complications in children with blood diseases

Research to be presented today at the 57th American Society of Hematology Annual Meeting and Exposition reveals genetic variants that are associated with disease severity and treatment-related complications in children with blood diseases.

7 Dec 2015