Genotyping News and Research

RSS

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

Affymetrix fourth quarter total revenue increases 2% to $84.4 million

Affymetrix, Inc., today reported its operating results for the three and twelve months ended December 31, 2012.

31 Jan 2013

Five genes hold key to meningioma make up

Research published in Science shows that mutations in five genes characterize most meningiomas.

28 Jan 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

New DNA chip could improve diagnosis and therapeutics of ADHD

Attention Deficit Hyperactivity Disorder (ADHD) is the most common childhood neuropsychiatric disorder. Yet there is currently no tool that will confirm the diagnosis of ADHD. In her thesis entitled "Development of a genotyping system to be applied in Attention Deficit Hyperactivity Disorder and its Pharmacogenetics".

22 Jan 2013

Study to determine prevalence of abnormal anal cytology and HPV in at-risk women

A basic connection of statistics lead a researcher at Women & Infants Hospital of Rhode Island to question whether women should be screened for anal cancer during a regular visit to the gynecologist, and what technique is most effective.

18 Jan 2013

Study: Patients with EGFR exon 20 insertions need targeted therapies

Exon 20 insertions are the third most common family of epidermal growth factor receptor (EGFR) mutations found in non-small-cell lung cancer (NSCLC). Little is known about cancers harboring these mutations aside from their lack of response to EGFR tyrosine kinase inhibitors, impairing the development of effective targeted therapies. A recent study published in the February 2013 issue of the International Association for the Study of Lung Cancer's (IASLC) Journal of Thoracic Oncology, concludes that patients with EGFR exon 20 insertions have similar clinical characteristics to those with common EGFR mutations, but a poorer prognosis.

16 Jan 2013

Susceptibility genes for bovine digital dermatitis found

Researchers have identified genetic variants that influence susceptibility to bovine digital dermatitis, an infectious condition that causes lameness of the hindfoot.

9 Jan 2013

New insulin associated genetic variants discovered

Exome array genotyping, which allows focus on the protein coding regions of the genome, has enabled researchers to identify three new genes containing low-frequency variants that influence insulin levels.

7 Jan 2013

Researchers identify four new genetic regions associated with Behcet's disease

Researchers have identified four new regions on the human genome associated with Behcet's disease, a painful and potentially dangerous condition found predominantly in people with ancestors along the Silk Road.

7 Jan 2013

Study suggests genetic component in pain response among children

At least two common gene variants are linked to "clinically meaningful" differences in pain scores in children after major surgery, reports a study in the January issue of Anesthesia & Analgesia, official journal of the International Anesthesia Research Society (IARS).

25 Dec 2012

Majority of parents with autistic child show interest in having genetic tests

The vast majority (80 percent) of parents with at least one child with Autism Spectrum Disorder (ASD) would pursue genetic testing if a test were available that could identify risk in a younger sibling, citing the desire for earlier identification of children at risk, earlier evaluation and intervention, closer monitoring and lessened anxiety.

29 Nov 2012

Roche’s cobas 4800 HPV Test receives CE mark

Roche today announces an expanded CE mark indication for the cobas 4800 HPV Test. The newly expanded indication for the cobas® 4800 HPV Test as a primary screen means Pap cytology is no longer required as a co- or pre-test in countries that accept a CE mark.

From Roche Sequencing and Life Science 27 Nov 2012

New tool helps identify nonadherent HIV patients

Researchers have developed a simple tool that predicts virologic response and development of drug resistance in patients receiving HIV treatment, based on how regularly they attend their scheduled health appointments.

26 Nov 2012