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Lipodystrophy: The Importance of Awareness

An interview with Rebecca Sanders, Lipodystrophy UK co-founder, discussing the importance of awareness campaigns for patients and society at large.

3 Apr 2018

Genetic testing could help guide blood-thinner treatment after stent placement

Using genetic testing to inform which blood thinner to use following a procedure to open narrowed blood vessels resulted in significantly fewer complications among patients, according to new research in Circulation: Genomic and Precision Medicine, an American Heart Association journal.

3 Apr 2018

Researchers identify 200 mutations in non-coding DNA that play role in cancer

Most of the human genome - 98 percent - is made up of DNA but doesn't actually encode genes, the recipes cells use to build proteins.

2 Apr 2018

New model predicts impact of rare genetic variants on IQ

Researchers have developed a new model that can predict the effect of rare genetic variants on a person’s IQ.

30 Mar 2018

New model predicts impact of rare genetic variants on IQ

Researchers have developed a new model that can predict the effect of rare genetic variants on a person’s IQ.

30 Mar 2018

First-of-its-kind cancer drug effective in 93% of pediatric patients

A first-of-its-kind drug targeting a fused gene found in many types of cancer was effective in 93 percent of pediatric patients tested, researchers at UT Southwestern's Simmons Cancer Center announced.

30 Mar 2018

Genomic test effective for detecting Lynch syndrome in CRC patients

A single, upfront genomic test is more effective for detecting Lynch syndrome in colorectal cancer (CRC) patients than the traditional multiple, sequential testing approach, according to new clinical data reported by The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute.

29 Mar 2018

Study shows limitations of AAV gene therapy in treating hereditary adrenal disorders

A new study has definitively shown that a single treatment with gene therapy using adeno-associated viral (AAV) vector gene delivery to replace the defective gene responsible for congenital adrenal hyperplasia (CAH) will only temporarily alleviate the hereditary disorder.

29 Mar 2018

Study identifies potential genetic link in sudden infant death syndrome

Rare genetic mutations associated with impairment of the breathing muscles are more common in children who have died from sudden infant death syndrome (also known as ‘cot death’) than in healthy controls, suggesting a possible genetic element of the disorder, according to a case-control study in the UK and USA published in The Lancet.

29 Mar 2018

International researchers discover link between congenital heart defects and adrenal gland cancer

An international team led by Dr. Patricia Dahia, M.D., Ph.D., of UT Health San Antonio, discovered a genetic mutation that explains why adults with severe congenital heart defects--who live with low oxygen in their blood--are at dramatically high risk for adrenal gland cancer.

29 Mar 2018

Genetic links to cot deaths found in new research

Cot death or Sudden Infant Death Syndrome (SIDS) is a rare but unexplained and tragic occurrence where babies between ages two and four months who are apparently healthy die unexpectedly during sleep. SIDS is responsible for around 300 and 2400 deaths in the United Kingdom and United States of America yearly. Researchers have now found a genetic link that could explain the occurrence and risk of such incidents. The study appeared in the latest issues of the journal Lancet.

29 Mar 2018

C-Path and CHDI announce launch of Huntington's Disease Regulatory Science Consortium

The Critical Path Institute, together with CHDI Foundation, Inc., today announced the official launch of C-Path's Huntington's Disease Regulatory Science Consortium.

28 Mar 2018

Researchers highlight the need to reconsider mitochondrial replacement moratorium

Mothers with mitochondrial DNA mutations often give birth to children who face incurable and fatal illnesses. But a much-studied form of mitochondrial replacement could prevent the transmission of such diseases from mothers to children, researchers say.

28 Mar 2018

Researchers aim to reveal new direction for Barth syndrome treatment

The Barth Syndrome Foundation recently announced awardees from its 2017 grant cycle. Miriam Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences at Wayne State University and a resident of Ann Arbor, Michigan, received a one-year, $50,000 grant for the project, "Cardiolipin activates pyruvate dehydrogenase (PDH) - a potential new target for treatment of Barth syndrome."

28 Mar 2018

EPFL researchers uncover how the circadian clock regulates 3D chromatin structure

EPFL biologists and geneticists have uncovered how the circadian clock orchestrates the 24-hour cycle of gene expression by regulating the structure of chromatin, the tightly wound DNA-protein complex of the cell. The work is published in Genes & Development.

28 Mar 2018

Scientists use CRISPR to develop a genome surveillance tool

Scientists have converted CRISPR/Cas9 into a genome surveillance tool, in an effort to develop a more effective way of fighting disease.

27 Mar 2018

Research provides better understanding of how some cancer cells resist treatment

An international team of researchers led by Lucio Miele, MD, PhD, Professor and Chair of Genetics at LSU Health New Orleans School of Medicine, and Justin Stebbing, BM BCh MA, PhD, Professor of Cancer Medicine and Medical Oncology at Imperial College of Medicine in London, has found new genetic mutations that promote the survival of cancer cells.

23 Mar 2018