Exome Sequencing News and Research

RSS

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

Exome sequencing refines 46,XY DSD diagnosis

Exome sequencing can identify a likely genetic cause of 46,XY disorders of sex development in about a third of cases, report researchers.

1 Dec 2014

Researchers discover why only some patients respond to ipilimumab drug

A collaborative team of leaders in the field of cancer immunology from Memorial Sloan Kettering Cancer Center has made a key discovery that advances the understanding of why some patients respond to ipilimumab, an immunotherapy drug, while others do not. MSK was at the forefront of the clinical research that brought this CTLA-4 blocking antibody to melanoma patients.

23 Nov 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

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

Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

20 Oct 2014

Study addresses the challenge of genomic heterogeneity

Known cancer-driving genomic aberrations in localized lung cancer appear to be so consistently present across tumors that a single biopsy of one region of the tumor is likely to identify most of them, according to a paper published today in Science.

10 Oct 2014

Scientists identify gene mutation that causes aplastic anemia

An international team of scientists has identified a gene mutation that causes aplastic anemia, a serious blood disorder in which the bone marrow fails to produce normal amounts of blood cells.

23 Sep 2014

Changes in ADNP gene may provide further insight into causes of autism

A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of Medical Genetics, presents findings that likely represent a definitive clinical marker for some patients' developmental disabilities.

29 Aug 2014

Deep sequencing technique opens up new possibilities for finding genetic causes for brain disorder

Not every cell in the body is the same genetically, and disease-causing mutations don't necessarily affect every cell—making these mutations easy to miss even with next-generation genomic sequencing.

21 Aug 2014

Genomics testing in action: an interview with Kevin Haar, CEO, Appistry

The more connections are made between genes, disease and drugs, and the more that we continue to understand about those connections, the more critical genetic testing will become in modern medicine.

21 Jul 2014

Exome sequencing improves diagnosis of mitochondrial disease

Use of exome sequencing improved the ability to identify the underlying gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes (enzymes that are involved in basic energy production), according to a study in the July 2 issue of JAMA.

2 Jul 2014

Insurers face difficult cost and coverage calculations regarding gene-sequencing tests

Aimee Robeson just wants an answer. Her son, Christian, was born in 2010 with multiple, mysterious syndromes that leave him unable to speak, chew, or walk on his own.

20 Jun 2014

Researchers discover strong genetic risk factor for type 2 diabetes in Latin American patients

In the largest study of its kind published to date, an international team of researchers in Mexico and the United States has discovered a strong genetic risk factor for type 2 diabetes that primarily affects Latin American patients, but is rare elsewhere.

11 Jun 2014

Whole genome sequencing reveals severe intellectual disability in patients

With a new technique, which at once studies the whole genome, a genetic cause can be identified in six out of ten children with severe intellectual disability. This makes the method more successful than all the usual methods together.

5 Jun 2014

Researchers develop new strategy to personalised medicine in advanced cancer patients

Tumour cells can accumulate hundreds or even thousands of DNA mutations which induce the growth and spread of cancer. The number and pattern of mutations differs according to the type of tumour, even among those that are classified as part of the same type of tumours.

30 Apr 2014

Researchers discover hotspot L205R mutation is closely associated with adrenocortical tumors

Chinese researchers from Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, BGI, and other institutions have discovered that the activating hotspot L205R mutation in PRKACA gene was closely associated with adrenocortical tumors (ACTs), and the relationship of recurrently mutated DOT1L and CLASP2 with ACTs' other subtypes.

7 Apr 2014

New research implicates that RNA processing is central to ALS disease process

In work supported by The ALS Association, researchers have discovered a new ALS-causing gene and have linked its function to that of another prominent disease gene. The study was published in the journal Nature Neuroscience.

1 Apr 2014