Mutation News and Research

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Irritable bowel may be genetic

Irritations of the bowel can have genetic causes. Researchers at the Institute of Human Genetics at Heidelberg University Hospital have discovered this correlation.

10 Dec 2008

Carrier screening for spinal muscular atrophy should be offered to all couples

Carrier screening for spinal muscular atrophy (SMA) - a serious genetic disease affecting approximately 1 in 10,000 infants that causes progressive muscle weakness and death - should be made available to all families, according to a new practice guideline issued by the American College of Medical Genetics (ACMG).

10 Dec 2008

Researchers map changing epigenetic modifications that enable transposons to run amok

Cold Spring Harbor, N.Y. – Much like cancer cells, plant cells grown for a long time outside of their normal milieu, in culture dishes, have highly unstable genomes.

10 Dec 2008

Hong Kong on high alert over bird flu outbreak

Concerns that an outbreak of what is suspected to be the deadly H5N1 bird flu virus in a wholesale market in Hong Kong, has prompted the culling of tens of thousands of chickens.

10 Dec 2008

New clues to the roots of epilepsy, autism, schizophrenia

Rice University researchers have found a potential clue to the roots of epilepsy, autism, schizophrenia and other neurological disorders.

10 Dec 2008

Experimental drug successfully blocks mutation in bone marrow cancers

Oregon Health & Science University Knight Cancer Institute researchers have found that an experimental drug successfully blocks an enzyme that causes some bone marrow cancers.

10 Dec 2008

Researchers visualize how cells coordinate their movements

Using novel imaging, labeling, and data-analysis techniques, scientists from the California Institute of Technology (Caltech) have been able to visualize, for the first time, large numbers of cells moving en masse during some of the earliest stages of embryonic development.

10 Dec 2008

Researchers discover why Gleevec-type drugs control, but do not eradicate leukemia

Oregon Health & Science University Knight Cancer Institute researchers are closer to understanding why certain chronic myeloid leukemia mutations are not stopped by the revolutionary targeted cancer pill, Gleevec, or similar therapies in that drug family.

8 Dec 2008

C. elegans worms may hold key to new treatments for obesity in humans

A previously unknown mutation discovered in a common roundworm holds the promise of new treatments for obesity in humans, McGill University researchers say.

8 Dec 2008

Gene therapy used to fight AIDS

The apparent success of a case in which German doctors cured a man of AIDS using a bone marrow transplant comes as no surprise to Gerhard Bauer, a UC Davis stem cell researcher.

8 Dec 2008

Discovery of 11 new gene sites that influence cholesterol or triglyceride levels

An international research team has identified 11 novel locations in the human genome where common variations appear to influence cholesterol or triglyceride levels, bringing the total number of lipid-associated genes to 30.

8 Dec 2008

Study links cone death in retinitis pigmentosa to metabolic problem

Rods and cones coexist peacefully in healthy retinas. Both types of cells occupy the same layer of tissue and send signals when they detect light, which is the first step in vision.

8 Dec 2008

Scientists create infectious prion disease in mouse model

A worldwide group of scientists has created an infectious prion disease in a mouse model, in a step that may help unravel the mystery of this progressive disease that affects the nervous system in humans and animals.

8 Dec 2008

Incyte's selective Janus kinase inhibitor demonstrates rapid and durable clinical benefits in Myelofibrosis patients

Incyte Corporation will present updated results from an ongoing Phase II trial of INCB18424, its selective, orally available Janus kinase (JAK) inhibitor, in patients with myelofibrosis (MF) at the 50th American Society of Hematology (ASH) Annual Meeting.

8 Dec 2008

Body clock and sleep patterns linked to diabetes and high blood sugar

Diabetes and high levels of blood sugar may be linked to abnormalities in a person's body clock and sleep patterns, according to a genome-wide association study published today in the journal Nature Genetics.

7 Dec 2008

Dormant stem cells for emergencies

Many specialized cells, such as in the skin, intestinal mucosa or blood, have a lifespan of only a few days.

5 Dec 2008

Discovery of MEDNIK syndrome

Canadian researchers announce the discovery of MEDNIK Syndrome, a debilitating genetic syndrome.

5 Dec 2008

Mad Cow disease strain found to be more virulent than classical strain

An atypical prion strain of mad cow disease, also called bovine spongiform encephalopathy or BS, is more virulent than the classical strain, according to a researcher who spoke Nov. 14 at Kansas State University.

3 Dec 2008

Motor neurons derived from human embryonic stem cells provide insight into ALS

Two new research studies use motor neurons derived from human embryonic stem (hES) cells to demonstrate that multiple toxic pathways contribute to the devastating degeneration associated with Amyotrophic Lateral Sclerosis (ALS) and that protective therapeutics will need to oppose the disease on multiple fronts.

3 Dec 2008

Genetic breakdown in Fanconi anemia may have link to HPV-associated cancer

A genetic malfunction that causes DNA instability in people with the blood disorder Fanconi anemia may put them at high risk for squamous cell carcinomas linked to human papillomavirus (HPV), according to a study posted online ahead of print by Oncogene.

3 Dec 2008