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Genetic Mutation Current Events | Genetic Mutation News | 7

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Study sheds important new light on inherited disorder causing iron overload
Research in today's New England Journal of Medicine (www.nejm.org) shows hereditary hemochromatosis is much more common than previously thought and will spur more study to determine who is most likely to develop complications from the debilitating and potentially fatal disease, write two faculty members at the Saint Louis University School of... view more... (2008-01-17)

Male infertility: Scientists discover candidate gene for impaired spermatogenesis
Lausanne, Switzerland: Researchers in the Netherlands believe they have identified a gene that is involved in causing infertility in men. Dr Judith Gianotten told the European Society of Human Reproduction and Embryology annual meeting in Lausanne today (Wednesday 4 July) that the ZNF214 gene is probably a candidate gene for impaired... view more... (2001-07-03)

Scientists discover major genetic cause of colorectal cancer
About one-third of colorectal cancers are inherited, but the genetic cause of most of these cancers is unknown. The genes linked to colorectal cancer account for less than 5 percent of all cases.   view more (2008-08-15)

Fear of insurance rejection deters potentially life saving genetic tests for bowel cancer
An Australian study of families with genetic risk of bowel cancer has found that 50 percent of participants declined genetic testing when informed of insurance implications.   view more (2009-09-08)

CSHL researchers discover three new genes that cause lung cancer
Researchers at Cold Spring Harbor Laboratory (CSHL) have discovered three genes that interact with cancerous results in 20% of lung cancers.   view more (2007-10-09)

HBV genotype B/B3 and C/C1 are the major genotypes in Indonesia?
Previous studies revealed that HBV genotypes as well as mutations in the core promoter, precore or HBx gene have been shown to have an association with the clinical outcome of liver disease, however, this is still controversial.   view more (2009-09-16)

Poor prognosis linked to BRCA1 mutations - but may be improved by chemotherapy
Breast cancer patients have a lower chance of long-term survival if they carry an inherited mutation in the BRCA1 gene, according to research published in Breast Cancer Research this week. However, the poor prognosis associated with the mutated gene is mitigated by chemotherapy. The breast cancer susceptibility genes, BRCA1 and BRCA2, were... view more... (2003-10-20)

Study reveals mechanism for cancer-drug resistance
Using the worm Caenorhabditis elegans, researchers at UT Southwestern Medical Center have discovered a mechanism by which cancer cells become resistant to a specific class of drugs.   view more (2006-10-10)

New test can detect both genetic and chromosomal abnormalities in embryos
One-step screening for both genetic and chromosomal abnormalities has come a stage closer as scientists announced that an embryo test they have been developing has successfully screened cells taken from spare embryos that were known to have cystic fibrosis.   view more (2009-06-30)

Study finds BRAF mutations in colorectal cancer cause resistance to anti-EGFR therapy
European researchers have found that metastatic colorectal cancer patients with a mutation in the BRAF gene do not respond to anti-EGFR therapy with cetuximab and panitumumab.   view more (2008-10-23)

Discovery of Genetic Mutation in Florida Beach Mice
Biologists at the University of California, San Diego have found that the main color differences among Florida's mice—which are darker on the mainland, but lighter on the barrier islands to blend in with the white sand dunes—are largely due to a simple genetic mutation.   view more (2006-07-10)

New Model for Autism Suggests Women Carry the Disorder and Explains Age as a Risk Factor
A new model for understanding how autism is acquired has been developed by a team of researchers led by Cold Spring Harbor Laboratory (CSHL) and Albert Einstein College of Medicine. Autism is a developmental disorder, characterized by language impairments, social deficits, and repetitive behaviors.   view more (2007-07-25)

A new kind of mutation could explain numerous phenotypic variations in various species
The authors describe the discovery of a novel class of mutations that disrupt the function of a gene and thereby cause a specific phenotype. The mutation created the appearance of an "illegitimate" microRNA (miRNA) recognition site in a gene that did not have it in its normal form.   view more (2006-06-06)

Epilepsy genes may cancel each other
Inheriting two genetic mutations that can individually cause epilepsy might actually be "seizure-protective," said Baylor College of Medicine researchers in a report that appears online today in the journal Nature Neuroscience.   view more (2007-11-05)

Mutations in the insulin gene can cause neonatal diabetes
Mutations in the insulin gene can cause permanent neonatal diabetes, an unusual form of diabetes that affects very young children and results in lifelong dependence on insulin injections.   view more (2007-09-11)

Researchers identify new drug targets for cancer
Solving a 100-year-old genetic puzzle, researchers at the University of California, San Diego (UCSD) School of Medicine have determined that the same genetic mechanism that drives tumor growth can also act as a tumor suppressor.   view more (2007-01-02)

Mayo Clinic Researchers Suspect a Novel Gene is Causing Restless Legs Syndrome in a Large Family
In 2005, a woman who had trouble sleeping asked Siong-Chi Lin, M.D., for help. Dr. Lin, a sleep disorders specialist at the Mayo Clinic campus in Florida, diagnosed restless legs syndrome.   view more (2009-02-04)

Folic acid could prevent heart disease
Folic acid could dramatically reduce the risk of heart disease, deep vein thrombosis, and stroke if levels of homocysteine (an amino acid) were reduced, according to researchers in this week’s BMJ.   view more (2002-11-20)

Flip-Flopped Chromosome Reveals a First Clue to Tourette Syndrome
Researchers have identified the first gene mutation associated with Tourette syndrome-opening a new avenue for understanding the complex disorder that causes muscle and vocal tics.   view more (2005-10-14)

Mutation that protects against HIV infection may raise risk of West Nile virus illness
People who lack a cell surface protein called CCR5 are highly resistant to infection by HIV but may be at increased risk of developing West Nile virus (WNV) illness when exposed to the mosquito-borne virus.   view more (2006-01-17)
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