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Prof. Mary-Claire King receives 2014 Lasker-Koshland Special Achievement Award in Medical Science

At a ceremony held in New York City on September 19, 2014, leading geneticist and humanitarian Prof. Mary-Claire King, the American Cancer Society Professor of Genome Sciences and Medicine at the University of Washington in Seattle and 2008 Honorary Doctor of Philosophy of Tel Aviv University, was awarded the 2014 Lasker-Koshland Special Achievement Award in Medical Science.

30 Oct 2014

New study reveals link between aristolochic acid and kidney cancer

A new study on a large cohort of kidney cancer patients in Europe sheds light on the genetic architecture of the disease -- and reveals an apparent link between exposure to aristolochic acid and incidence of kidney cancer, particularly in Romania.

29 Oct 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

Researchers use DNA sequencing to uncover genes that heighten autism risk

In the largest study of its kind to date, researchers have used DNA sequencing to uncover dozens of genes that heighten the risk for autism. Joseph Buxbaum, Ph.D., Icahn School of Medicine at Mount Sinai, New York City, Mark Daly, Ph.D., Broad Institute of Harvard and MIT, and their colleagues examined more than 14,000 DNA samples from affected children, parents and unrelated people.

29 Oct 2014

TSRI scientists discover signaling pathway that contribute to Huntington's disease

Scientists from the Florida campus of The Scripps Research Institute have uncovered a major contributor to Huntington's disease, a devastating progressive neurological condition that produces involuntary movements, emotional disturbance and cognitive impairment.

29 Oct 2014

EMA's CHMP adopts final opinion on ARIAD Pharmaceuticals' Iclusig (ponatinib)

ARIAD Pharmaceuticals, Inc. today announced that the Committee for Medicinal Products for Human Use of the European Medicines Agency has adopted its final opinion on Iclusig (ponatinib) following the recommendations made by the Pharmacovigilance Risk Assessment Committee earlier this month.

27 Oct 2014

Understanding of genomic landscape of thyroid cancer

A new comprehensive analysis of thyroid cancer from The Cancer Genome Atlas Research Network has identified markers of aggressive tumors, which could allow for better targeting of appropriate treatments to individual patients.

27 Oct 2014

RNF43 mutation may serve as biomarker that identifies colorectal, endometrial cancer patients

Scientists say they have identified in about 20 percent of colorectal and endometrial cancers a genetic mutation that had been overlooked in recent large, comprehensive gene searches. With this discovery, the altered gene, called RNF43, now ranks as one of the most common mutations in the two cancer types.

27 Oct 2014

Digoxin drug may be adaptable for ALS treatment, study suggests

Digoxin, a medication used in the treatment of heart failure, may be adaptable for the treatment of amyotrophic lateral sclerosis (ALS), a progressive, paralyzing disease, suggests new research at Washington University School of Medicine in St. Louis.

27 Oct 2014

UT Southwestern assistant professor named Moore Investigator in Data-Driven Discovery

Dr. Kimberly Reynolds, Assistant Professor in the Cecil H. and Ida Green Comprehensive Center for Molecular, Computational, and Systems Biology and in the Department of Biophysics at UT Southwestern Medical Center, has been named one of 14 Moore Investigators in Data-Driven Discovery.

27 Oct 2014

Scientists devise novel way to use stem cells in fight against brain cancer

Harvard Stem Cell Institute scientists at Massachusetts General Hospital have devised a new way to use stem cells in the fight against brain cancer. A team led by neuroscientist Khalid Shah, MS, PhD, who recently demonstrated the value of stem cells loaded with cancer-killing herpes viruses, now has a way to genetically engineer stem cells so that they can produce and secrete tumor-killing toxins.

27 Oct 2014

Cornell University chemists uncover new insight into the underlying causes of ALS

Using a technique that illuminates subtle changes in individual proteins, chemistry researchers at Cornell University have uncovered new insight into the underlying causes of Amyotrophic Lateral Sclerosis (ALS).

27 Oct 2014

UT Southwestern receives CPRIT grant to expand genetic screening services in North Texas

Genetic screening services for rural and underserved populations will expand from six to 22 counties in North Texas under a $1.5 million grant from the Cancer Prevention and Research Institute of Texas to UT Southwestern Medical Center.

26 Oct 2014

Study reveals subtypes, potential diagnostic and treatment clues for papillary thyroid carcinomas

A comprehensive analysis of the genomes of nearly 500 papillary thyroid carcinomas (PTC) – the most common form of thyroid cancer – has provided new insights into the roles of frequently mutated cancer genes and other genomic alterations that drive disease development.

25 Oct 2014

MIT researchers develop new way to model effects of cancer-causing genetic mutations

Sequencing the genomes of tumor cells has revealed thousands of genetic mutations linked with cancer. However, sifting through this deluge of information to figure out which of these mutations actually drive cancer growth has proven to be a tedious, time-consuming process.

24 Oct 2014

Longer looks: Obamacare in the midterm campaign; watching Ebola mutate; lessons on dying

According to Kantar Media, a firm that tracks political advertising, health care is the main subject of campaign ads, especially Republican ones. Obamacare is unpopular - over half of Americans disapprove of it. Republicans talk about it constantly on the campaign trail, though not as intemperately as they did during their own party's primaries. Democrats scarcely mention it (10/18).

24 Oct 2014

French hospital uses Sophia DDM Platform to improve diagnostic testing of congenital disorders

The Hospices Civils de Lyon, the second-largest University Hospital Network in France, has elected to use the Sophia Genetics Data Driven Medicine (DDM) Platform to support improvements in diagnostic testing for patients suffering from congenital disorders.

24 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

Afatinib active against NSCLC nervous system metastases

Heavily pretreated patients with epidermal growth factor receptor-mutated non-small-cell lung cancer and central nervous system metastases may benefit from treatment with afatinib, say German researchers.

22 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

Mutation News and Research

Prof. Mary-Claire King receives 2014 Lasker-Koshland Special Achievement Award in Medical Science

New study reveals link between aristolochic acid and kidney cancer

Genetic differences contribute to risk for autism

Researchers use DNA sequencing to uncover genes that heighten autism risk

TSRI scientists discover signaling pathway that contribute to Huntington's disease

EMA's CHMP adopts final opinion on ARIAD Pharmaceuticals' Iclusig (ponatinib)

Understanding of genomic landscape of thyroid cancer

RNF43 mutation may serve as biomarker that identifies colorectal, endometrial cancer patients

Digoxin drug may be adaptable for ALS treatment, study suggests

UT Southwestern assistant professor named Moore Investigator in Data-Driven Discovery

Scientists devise novel way to use stem cells in fight against brain cancer

Cornell University chemists uncover new insight into the underlying causes of ALS

UT Southwestern receives CPRIT grant to expand genetic screening services in North Texas

Study reveals subtypes, potential diagnostic and treatment clues for papillary thyroid carcinomas

MIT researchers develop new way to model effects of cancer-causing genetic mutations

Longer looks: Obamacare in the midterm campaign; watching Ebola mutate; lessons on dying

French hospital uses Sophia DDM Platform to improve diagnostic testing of congenital disorders

Scientists use innovative exome sequencing strategy to identify new gene associated with ALS

Afatinib active against NSCLC nervous system metastases

Cypher researchers identify new genetic cause of severe epileptic encephalopathy

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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