Single Nucleotide Polymorphisms News and Research

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Discovery of new gene that causes Leber congenital amaurosis and retinitis pigmentosa

The team of Dr. Robert Koenekoop which includes Dr. Irma Lopez from the Research Institute of the MUHC at the Montreal Children's Hospital played a crucial role in the international collaboration that led to the discovery of a new gene that causes Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), two devastating forms of childhood blindness.

5 Mar 2009

New software aids discovery of new genetic markers for diseases

Modern genotyping technologies offer new opportunities to explore how genes influence health and disease, but also present the challenge of analyzing huge amounts of genetic and clinical data.

26 Feb 2009

Novel approach to gene hunting uncovers possible new targets for Crohn's disease drugs

Discovering the different genes that contribute to a complex disease is like searching in the proverbial haystack for an unknown number of needles--some much smaller than others, often blending into the background, and many of them widely separated from each other.

26 Feb 2009

New statistical model could predict an individual's lifetime risk of stroke

Using genetic information from 569 hospital patients, the researchers showed that their predictive model could estimate an individual's overall risk of cardioembolic stroke -- the most common form of stroke -- with 86 percent accuracy. The findings are reported in the March issue of Stroke.

25 Feb 2009

Handheld device provides on-the-spot DNA analysis to test tolerance to prescription drugs

A handheld device to predict whether patients will respond adversely to medication is one step closer to the market, thanks to a new partnership.

18 Feb 2009

Common gene variants increase risk of hypertension, may lead to new therapies

A new study has identified the first common gene variants associated with an increased incidence of hypertension - a significant risk factor for heart attack, stroke and kidney failure.

16 Feb 2009

Study identifies gene variants associated with early-onset myocardial infarction

The largest study ever completed of genetic factors associated with heart attacks has identified nine genetic regions - three not previously described - that appear to increase the risk for early-onset myocardial infarction.

8 Feb 2009

Breakthrough in thyroid cancer may enable more targeted risk assessment and earlier intervention

Scientists at deCODE genetics presented the discovery of two single letter variations in the sequence of the human genome (SNPs) conferring substantial increased risk of thyroid cancer.

8 Feb 2009

Researchers uncover serotonin transporter gene SLC6A4's role in severity of drinking

New research from the University of Virginia Health System could help explain why some alcoholics are more severe drinkers than others.

5 Feb 2009

Discovery of new schizophrenia gene

Researchers at the Johns Hopkins University School of Medicine are one gene closer to understanding schizophrenia and related disorders.

3 Feb 2009

Research finds more than 100 gene variations linked with response to leukemia treatment

Scientists from St. Jude Children's Research Hospital and the Children's Oncology Group (COG) have discovered in children with acute lymphoblastic leukemia (ALL) scores of inherited genetic variations that clinicians might be able to use as guideposts for designing more effective chemotherapy for this cancer.

29 Jan 2009

Genetic variations associated with treatment response for acute lymphoblastic leukemia

Children with acute lymphoblastic leukemia with certain genetic variations can have a different response to anti-cancer treatment than other patients, according to a study in the January 28 issue of JAMA, the Journal of the American Medical Association.

29 Jan 2009

New understanding of genetic basis of psoriasis

Two international teams of researchers have made significant gains in understanding the genetic basis of psoriasis, a chronic skin condition that can be debilitating in some patients.

27 Jan 2009

Genetic interactions are the key to understanding complex traits

In recent years, genetic studies have uncovered hundreds of DNA variations linked to common diseases, such as cancer or diabetes, raising the prospect that scientists can gauge disease risk based on information in an individual's genome.

23 Jan 2009

Genetic variations in DNA repair patterns may increase risk of pancreatic cancer

Genetic variations in DNA repair patterns may increase risk of pancreatic cancer by as much as threefold or decrease it by as much as 77 percent, depending on the genes involved, according to a report published in the January 15, 2009, issue of Clinical Cancer Research, a journal of the American Association for Cancer Research.

19 Jan 2009

Defects in critical DNA repair genes may predict pancreatic cancer risk

Abnormalities in genes that repair mistakes in DNA replication may help identify people who are at high risk of developing pancreatic cancer, a research team from The University of Texas M. D. Anderson Cancer Center reports in the Jan. 15 issue of Clinical Cancer Research .

19 Jan 2009

Variations in mismatch repair genes predict prognosis in pancreatic cancer

Variations in mismatch repair genes can help predict treatment response and prognosis in patients with pancreatic cancer, according to research from The University of Texas M. D. Anderson Cancer Center presented today in advance of the American Society of Clinical Oncology (ASCO) Gastrointestinal Cancers Symposium.

13 Jan 2009

New understanding of genetic signature associated with Alzheimer's disease

Scientists have new information about the complex genetic signature associated with Alzheimer's disease, the leading cause of cognitive decline and dementia in the elderly.

1 Jan 2009

Researchers identify common gene variant linked to high blood pressure

Researchers at the University of Maryland School of Medicine have identified a common gene variant that appears to influence people's risk of developing high blood pressure, according to the results of a study being published online Dec. 29, 2008 in the Proceedings of the National Academy of Sciences (PNAS).

30 Dec 2008

Discovery of seven new sites in the human genome found to influence obesity

In one of the largest studies of its kind, a multinational team led by scientists from deCODE genetics has reported the discovery of common variations at seven new sites in the human genome found to influence obesity.

14 Dec 2008