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Phase 2 study of VX-661 and ivacaftor shows significant improvements in lung function among CF patients

Vertex Pharmaceuticals Incorporated today announced data from a Phase 2 study of VX-661 and ivacaftor that showed statistically significant improvements in lung function among adults with cystic fibrosis (CF) who have two copies (homozygous) of the most common mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, known as F508del.

22 Apr 2013

Genetic study defines link between primary sclerosing cholangitis and other autoimmune diseases

Researchers have newly associated nine genetic regions with a rare autoimmune disease of the liver known as primary sclerosing cholangitis (PSC). This brings the total number of genetic regions associated with the disease to 16.

22 Apr 2013

Study identifies seven new genetic regions associated with pulmonary fibrosis

A new genome-wide association study of more than 6,000 people has identified seven new genetic regions associated with pulmonary fibrosis. In findings published online in Nature Genetics on April 14, 2013, researchers at National Jewish Health, the University of Colorado and several other institutions found a number of genes associated with host defense, cell-cell adhesion and DNA repair, which provide clues to possible mechanisms underlying this currently untreatable disease.

20 Apr 2013

UCSF study evaluates genetic predictors of lymphedema in women

A new UCSF study has found a clear association between certain genes and the development of lymphedema, a painful and chronic condition that often occurs after breast cancer surgery and some other cancer treatments.

17 Apr 2013

New partnership to introduce advanced genetic testing technologies to Turkey

BGI Health and ACIBADEM Healthcare Group Genetic Diagnostic Center in cooperation with Genoks Company Molecular Biology, signed a Memorandum of Understanding for jointly introducing the advanced genetic testing technologies to Turkey and improving Turkish reproductive healthcare.

17 Apr 2013

Research suggests fainting may be genetic while certain triggers may not be inherited

New research suggests that fainting may be genetic and, in some families, only one gene may be responsible. However, a predisposition to certain triggers, such as emotional distress or the sight of blood, may not be inherited.

16 Apr 2013

Study shows genetic variant reduces pain severity associated with sexual assault

One in five U.S. women are sexually assaulted in their lifetimes and more than half experience severe pain during the week following an attack.

11 Apr 2013

New genetic variants may increase susceptibility to breast, prostate and ovarian cancers

The European Collaborative Oncological Gen-‐Environmental Study (COGS) project, whose main goal is to decipher the complex genetic bases of breast, prostate and ovarian cancers, publishes a total of 12 research articles in several prestigious journals, including Nature Genetics, Nature Communications, The American Journal of Human Genetics and PLOS Genetics.

4 Apr 2013

Illumina releases TruSight Tumor for NGS-based somatic variant detection in solid tumors

Illumina, Inc. today announced the next product in its TruSight line of content sets, TruSight Tumor, for NGS-based somatic variant detection in solid tumors.

From Illumina, Inc. 4 Apr 2013

Biological psychiatry shares progress in identifying genomic predictors of antidepressant response

Antidepressants are commonly prescribed for the treatment of depression, but many individuals do not experience symptom relief from treatment.

30 Mar 2013

Researchers identify HNF1B gene that can increase risk of ovarian cancer

Researchers at Mayo Clinic Cancer Center have identified a novel gene that can contribute to a woman's susceptibility for developing ovarian cancer. Researchers identified the gene, called HNF1B, through large-scale analysis of more than 16,000 women with ovarian cancer and more than 26,000 healthy women.

28 Mar 2013

Study: New genetic variants may increase cancer risk

The European Collaborative Oncological Gen-Environmental Study (COGS) project, whose main goal is to decipher the complex genetic bases of breast, prostate and ovarian cancers, publishes today a total of 12 research articles in several prestigious journals, including Nature Genetics, Nature Communications, The American Journal of Human Genetics and PLOS Genetics.

28 Mar 2013

Hepatitis C and HIV co-infection treatment: an interview with Prof Boecher, Boehringer Ingelheim

Chronic hepatitis C infection is one of the most frequent chronic infectious diseases worldwide. The WHO estimates that 150 million people worldwide are chronically infected with the hepatitis C virus (HCV).

20 Mar 2013

SIRT1 gene may be involved in development of type 1 diabetes

A JDRF-funded study out of Switzerland has shown that a single gene called SIRT1 may be involved in the development of type 1 diabetes (T1D) and other autoimmune diseases. The study, "Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes," was published today in Cell Metabolism and represents the first demonstration of a monogenetic defect leading to the onset of T1D.

6 Mar 2013

Investigators identify seven new genetic regions associated with AMD

An international group of investigators has identified seven new genetic regions associated with age-related macular degeneration (AMD), a common cause of blindness in older individuals. The findings, reported online March 3 in Nature Genetics, could point to new biological pathways and therapeutic targets for AMD.

4 Mar 2013

Researchers improve NanoVelcro device to better grab cancer cells as blood passes by them

Researchers at UCLA report that they have refined a method they previously developed for capturing and analyzing cancer cells that break away from patients' tumors and circulate in the blood. With the improvements to their device, which uses a Velcro-like nanoscale technology, they can now detect and isolate single cancer cells from patient blood samples for analysis.

26 Feb 2013

Familial Hypercholesterolaemia patients often inherit small-effect changes in several genes rather than a large-effect mutation in a single gene

Research published Online First in The Lancet provides new evidence that a substantial proportion of individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH) inherit a combination of small-effect changes in several genes (polygenic) rather than a large-effect mutation in a single gene (monogenic).

22 Feb 2013

IntegraGen, Lab21 collaborate to develop new microRNA assay for colorectal cancer

Lab21 Limited, the global specialist in personalised medicine and clinical diagnostics, has entered into an agreement with IntegraGen, a leading player in the development and marketing of molecular diagnostic testing in autism and oncology, to develop a microRNA assay for colorectal cancer designed to further improve patient outcomes.

22 Feb 2013

TP PCR methodology may help streamline genetic testing for Huntington's

A new test may help to streamline genetic testing for Huntington Disease (HD) by generating accurate results, avoiding unnecessary additional testing, and improving turnaround time.

14 Feb 2013

LPA genetic variant increases risk of heart valve calcification

Researchers have found a genetic variant that doubles the likelihood that people will have calcium deposits on their aortic valve. Such calcification, if it becomes severe, can cause narrowing or a blockage of the aortic valve, a condition called aortic stenosis.

9 Feb 2013