Exome Sequencing News and Research

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Study reveals new genetic causes of non-syndromic cleft lip and palate

A study conducted by an international research team, which included investigators from Seattle Children's Research Institute, implicates variants in four genes as a primary cause of non-syndromic cleft lip and palate in humans.

8 Jun 2018

Scientists identify new inherited neurodevelopmental disease

Researchers have identified a new inherited neurodevelopmental disease that causes slow growth, seizures and learning difficulties in humans.

23 May 2018

Are you and your primary care doc ready to talk about your DNA?

If you have a genetic mutation that increases your risk for a treatable medical condition, would you want to know? For many people the answer is yes. But such information is not commonly part of routine primary care.

22 May 2018

Researchers identify six genes that predispose carriers to develop medulloblastoma

Researchers have identified six genes that predispose carriers to develop the brain tumor medulloblastoma and have used the discovery to craft genetic counseling and screening guidelines. The study appears today in the journal The Lancet Oncology.

10 May 2018

Blood biopsies may offer more comprehensive genetic information than bone marrow tests, shows research

Bone marrow biopsies are the gold standard for diagnosing and monitoring the progression of multiple myeloma, but these procedures are far too invasive to perform at every patient visit.

27 Apr 2018

Zika virus can be used for treating aggressive human central nervous system tumors, shows study

A Brazilian study published April 26 in the journal Cancer Research shows for the first time in vivo that Zika virus can be used as a tool to treat aggressive human central nervous system (CNS) tumors.

27 Apr 2018

Researchers discover new information related to rare form of leukemia

International research consortium led by researchers from the University of Helsinki, Finland, discovered new information related to a rare form of leukemia called aggressive NK-cell leukemia.

20 Apr 2018

Briefing note examines ethical issues in whole genome sequencing of babies

The Nuffield Council on Bioethics has today published a briefing note that examines the ethical issues raised by whole genome sequencing of babies.

28 Mar 2018

Researchers uncover cause of rare childhood neurodegenerative disease

Neurology researchers investigating a rare but devastating neurological regression in infants have discovered the cause: gene mutations that severely disrupt crucial functions in mitochondria, the energy-producing structures within cells.

23 Mar 2018

Researchers discover 'missing mutation' in severe infant epilepsy

Researchers have discovered a "missing mutation" in severe infant epilepsy--long-suspected genetic changes that might trigger overactive, brain-damaging electrical signaling leading to seizures.

20 Mar 2018

Genetic heart mutations account for fewer sudden and unexplained infant deaths

Researchers have discovered that heart disease caused by genetic mutations account for significantly fewer sudden and unexplained deaths of infants than previously reported.

13 Mar 2018

Novel genetic mutations may explain link between high HDL cholesterol and reduced heart disease risk

Researchers at the University of Maryland School of Medicine have uncovered genetic mutations that may explain why people with high levels of high-density lipoprotein (HDL) cholesterol, the "good cholesterol," have a reduced risk of coronary heart disease.

7 Feb 2018

Higher susceptibility of some babies to Zika virus has a genetic origin, study shows

Microcephaly, brain calcification, skeletal alterations, auditory and visual deficits - these are examples of the damage that can be caused by Zika virus in babies born to mothers infected during pregnancy.

2 Feb 2018

Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Greenwood Genetic Center researchers in collaboration with scientists from Canada have identified unique epigenetic signatures for nine neurodevelopmental disorders lending to a better method of diagnosis for disorders with much clinical overlap.

23 Jan 2018

Pretreatment improves outcomes in high-risk stage 3 melanoma, study shows

A pair of targeted therapies given before and after surgery for melanoma produced at least a six-fold increase in time to progression compared to standard-of-care surgery for patients with stage 3 disease, researchers at The University of Texas MD Anderson Cancer Center report in Lancet Oncology.

18 Jan 2018

Regeneron forms consortium to accelerate largest widely-available human sequencing resource

By the end of 2019, Regeneron plans to sequence the exomes of all 500,000 people within the UK Biobank resource, all with associated health records, creating an unprecedented resource linking human genetic variations to human biology and disease.

9 Jan 2018

Study provides insight into how early-stage breast cancer progresses to invasive ductal carcinoma

A new genetic-based model may explain how a common form of early-stage breast cancer known as ductal carcinoma in situ progresses to a more invasive form of cancer say researchers at The University of Texas MD Anderson Cancer Center.

4 Jan 2018

DNA sequencing could identify genetic cause of kidney disease

DNA sequencing could soon become part of the routine diagnostic workup for patients with chronic kidney disease, suggests a new study from Columbia University Medical Center.

5 Dec 2017

Genetic diversity of tumor tissues can be barrier to precision medicine in gastric and esophageal cancers

A new study focused on describing genetic variations within a primary tumor, differences between the primary and a metastatic branch of that tumor, and additional diversity found in tumor DNA in the blood stream could help physicians make better treatment choices for patients with gastric and esophageal adenocarcinoma.

15 Nov 2017

Researchers find rare genetic variants that may help explain longevity in some CF patients

Cystic fibrosis is an inherited disorder caused by genetic mutations that disrupt the normal movement of chloride in and out of cells. Among other health problems, cystic fibrosis compromises the lungs' ability to fight infection and breathe efficiently, making it the most lethal genetic disease in the Caucasian population. Patients have an average lifespan of just 30 to 40 years.

25 Oct 2017