Exome Sequencing News and Research

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PGDx introduces ImmunoSelect-R service to support development of immuno-oncology cancer therapies

Personal Genome Diagnostics, Inc., a provider of advanced cancer genome analysis and testing services, today announced the launch of its ImmunoSelect-R service designed to identify mutant neoantigens and support development of immuno-oncology cancer therapies.

1 Jun 2015

Novel insights into the genetics of autism

A study of 2,377 children with autism, their parents and siblings has revealed novel insights into the genetics of the condition.

12 May 2015

Mutations in PARN and RTEL1 associated with familial pulmonary fibrosis, telomere shortening

Researchers at UT Southwestern Medical Center have identified mutations in two genes that cause a fatal lung scarring disease known as familial pulmonary fibrosis.

5 May 2015

Exome sequencing helps identify link between environmental exposures and mutational patterns in HCC

A new study presented today at The International Liver Congress 2015 shows that by using genomic analyses to understand how and when carcinogenic mutations occur in patients with hepatocellular carcinoma (HCC), it is possible to identify specific molecular profiles. It is hoped that these molecular profiles will help identify which patients would benefit from specific anticancer treatments.

23 Apr 2015

New method for measuring genetic variability may help identify patients with aggressive cancers

A new method for measuring genetic variability within a tumor might one day help doctors identify patients with aggressive cancers that are more likely to resist therapy, according to a study led by researchers now at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute.

17 Apr 2015

UW Medicine receives $6 million from Ellison Foundation to revolutionize care for people with Alzheimer's

Alzheimer's disease, a severe and progressive degenerative condition that leads to dementia, affects millions of people in the U.S. At present, there is no cure. Unless new treatments emerge, the Centers for Disease Control estimates that approximately 13.8 million people in the U.S. will live with Alzheimer's-related dementia by 2050.

29 Mar 2015

Claritas to present data on Pediatric Neurological Exome Assay and new sequencing approach at ACMG 2015

Claritas Genomics will present data on the quality of parallel multi-technology sequencing, a comparison of the company’s phenotypically driven Pediatric Neurology Exome Assay to whole exome and panel-based approaches, three-part reports for rapid results reporting, and the clinical utility of the Neurology Exome’s tailored approach compared to other tests currently on the market.

26 Mar 2015

Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced the availability of Neurome, a whole exome sequencing service designed to aid the diagnosis of rare neurological disorders in pediatric populations.

From Quest Diagnostics 10 Mar 2015

TAU researchers identify novel genetic mutation as source of specific rare disease

Rare diseases -- those that affect fewer than one in 200,000 people -- are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. While the U.S. Orphan Drug Act of 1983 was written into law to promote research on the topic, the cost of identifying the source and progression of these diseases remains prohibitive for many families.

10 Feb 2015

Whole exome sequencing helps Mayo Clinic neurologist solve a medical mystery

Precision medicine is getting a jump-start from a new national initiative announced in President Obama's State of the Union message. One Georgia family has already experienced its benefits: genomic testing called whole exome sequencing helped Mayo Clinic neurologist Zbigniew Wszolek, M.D., solve a medical mystery that had left a boy with painful, jerking spasms that at times prevented him from walking or talking.

4 Feb 2015

International researchers discover gene that causes familial scoliosis

The discovery of the first gene causing familial scoliosis was announced by an international France-Canada research team today. "Mystery surrounds the cause of scoliosis, which is a three dimensional deformation of the vertebral column. Many researchers have been attempting to uncover the origins of this disease, particularly from a genetic point of view," explained leading co-author Dr Florina Moldovan of the University of Montreal and the CHU Sainte Justine research hospital.

3 Feb 2015

Study identifies gene that may become resistant to current testicular cancer treatments

A major research study has uncovered several new genetic mutations that could drive testicular cancer - and also identified a gene which may contribute to tumours becoming resistant to current treatments.

22 Jan 2015

Study: Mutated ATRX gene may serve as much-needed biomarker for rare neuroendocrine tumors

A somatic mutation in the ATRX gene has recently been shown as a potential molecular marker for aggressive brain tumors, such as gliomas, neuroblastomas and pancreatic neuroendocrine tumors. Now, for the first time, researchers at Penn's Abramson Cancer Center have found that the same mutated gene may serve as a much-needed biomarker for the pheochromocytomas and paragangliomas (PCC/PGL) that become malignant.

21 Jan 2015

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal).

20 Jan 2015

Scientists identify first genetic marker linked to severe neurological toxicity

Paclitaxel is a chemotherapeutic drug that has been shown to be highly effective when treating solid tumours, such as breast, ovarian and lung tumours. However, its use frequently causes peripheral neuropathies, neurological problems that affect the vast majority of patients.

15 Jan 2015

Single biopsy site may reveal all lung adenocarcinoma genetic mutations

Genetic sequencing of a single tumour site sample may be adequate for identifying cancer gene mutations in patients with lung andenocarcinoma, research published in Science suggests.

18 Dec 2014

Tel Aviv University study throws spotlight on gene mutation responsible for premature ovarian failure

Premature ovarian failure, also known as primary ovarian insufficiency (POI), affects 1% of all women worldwide. In most cases, the exact cause of the condition, which is often associated with infertility, is difficult to determine.

18 Dec 2014

Researchers pinpoint rare gene mutations that increase risk of heart attack early in life

A team of investigators from the Broad Institute, Massachusetts General Hospital and other leading biomedical research institutions has pinpointed rare mutations in a gene called APOA5 that increase a person's risk of having a heart attack early in life. These mutations disable the APOA5 gene and also raise the levels in the blood of triglyceride-rich lipoproteins, a type of fat.

11 Dec 2014

Baylor-led researchers identify gene linked to familial glioma

An international consortium of researchers led by Baylor College of Medicine has identified for the first time a gene associated with familial glioma (brain tumors that appear in two or more members of the same family) providing new support that certain people may be genetically predisposed to the disease.

8 Dec 2014

Scientists seek to improve stem cell transplant outcomes using DNA sequencing, mathematical modeling

Is the human immune system similar to the weather, a seemingly random yet dynamical system that can be modeled based on past conditions to predict future states? Scientists at VCU Massey Cancer Center's award-winning Bone Marrow Transplant (BMT) Program believe it is, and they recently published several studies that support the possibility of using next-generation DNA sequencing and mathematical modeling to not only understand the variability observed in clinical outcomes of stem cell transplantation, but also to provide a theoretical framework to make transplantation a possibility for more patients who do not have a related donor.

5 Dec 2014