Mutation News and Research

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Gene abnormality found to predict childhood leukemia relapse

Scientists have identified mutations in a gene that predict a high likelihood of relapse in children with acute lymphoblastic leukemia (ALL).

8 Jan 2009

Study looks at Fatal Familiar Insomnia

Fatal Familiar Insomnia (FFI) is one of the diseases considered as rare - there are less than 100 cases described throughout the world.

7 Jan 2009

Gene mutations found to predict acute lymphoblastic leukemia relapse

Scientists have identified mutations in a gene that predict a high likelihood of relapse in children with acute lymphoblastic leukemia (ALL).

7 Jan 2009

Widespread antiviral drug use can accelerate the evolution of drug resistance in viruses

Influenza's ability to resist the effects of cheap and popular antiviral agents in Asia and Russia should serve as a cautionary tale about U.S. plans to use the antiviral Tamiflu in the event of widespread avian flu infection in humans, scientists say.

7 Jan 2009

Bird flu becoming more resistant to antivirals

A new University of Colorado at Boulder study shows the resistance of the avian flu virus to a major class of antiviral drugs is increasing through positive evolutionary selection, with researchers documenting the trend in more than 30 percent of the samples tested.

7 Jan 2009

Virtuoso cell engineering

University of Michigan researchers have discovered that a key protein in cells plays a critical role in not one, but two processes affecting the development of cancer.

6 Jan 2009

Onyx Pharmaceuticals acquires license option on novel JAK2 inhibitors from S*BIO

Onyx Pharmaceuticals, Inc. has announced that it has acquired an option to license rights to SB1518, an orally available, potent, and selective inhibitor of Janus Kinase 2 (JAK2), and SB1578, also a JAK2 inhibitor, from S*BIO Pte Ltd based in Singapore.

6 Jan 2009

People with Ala12 gene variant need to watch out for high fat in their diets

New evidence in mice bolsters the notion that a version of a gene earlier shown to protect lean people against weight gain and insulin resistance can have the opposite effect in those who eat a high-fat diet and are heavier, reveals a report in the January 7th issue of the journal Cell Metabolism, a Cell Press publication.

6 Jan 2009

Genetic mutation causes familial susceptibility for degenerative brain disease acute necrotizing encephalopathy

Mutation of a gene that helps proteins migrate in and out of the cell's genetic command center - the nucleus - puts some families at higher risk for the degenerative brain disease acute necrotizing encephalopathy (ANE).

6 Jan 2009

Stem cells from human testes can change into other body tissues

Scientists at the Stanford University School of Medicine and at UC-San Francisco have succeeded in isolating stem cells from human testes.

5 Jan 2009

Prolonged nevirapine in breast-fed babies prevents HIV infection but leads to drug-resistant HIV

Babies born to HIV-positive mothers and given the antiretroviral drug nevirapine through the first six weeks of life to prevent infection via breast-feeding are at high risk for developing drug-resistant HIV if they get infected anyway, a team of researchers report.

5 Jan 2009

How loss or mutation of LMNA gene causes Emery-Dreifuss muscular dystrophy

Mutations in the nuclear intermediate filament lamin A/C (LMNA) gene are associated with Emery-Dreifuss muscular dystrophy, but cause the disease by unknown mechanisms.

5 Jan 2009

Antibodies take 'evolutionary leaps' to fight microbes

With cold and flu season in full swing, the fact that viruses and bacteria rapidly evolve is apparent with every sneeze, sniffle, and cough.

5 Jan 2009

Discovery of new syndrome associated with severe congenital neutropenia

A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3).

5 Jan 2009

A novel glioblastoma mouse model developed

Researchers at the Salk Institute for Biological Studies have developed a versatile mouse model of glioblastoma-the most common and deadly brain cancer in humans-that closely resembles the development and progression of human brain tumors that arise naturally.

5 Jan 2009

Inherited factors play key role in breast cancer

New research in mice and five independent collections of human breast tumors has enabled National Cancer Institute (NCI) scientists to confirm that genes for factors contributing to susceptibility for breast cancer metastasis can be inherited.

5 Jan 2009

Bird flu appears again in heavily populated region of India

Another outbreak of deadly bird flu in India has put health authorities on high alert following the deaths of thousands of chickens.

5 Jan 2009

Culprit found in rare type of baldness

Scientists in Beijing say they have discovered a genetic cause for a certain type of premature baldness and they suggest their discovery offers hope in future that those who inherit this rare type of baldness will eventually be able to keep their hair.

5 Jan 2009

Discovery of potential important pathway for controlling cell loss and survival in Parkinson's disease

Neurologists have observed for decades that Lewy bodies, clumps of aggregated proteins inside cells, appear in the brains of patients with Parkinson's disease and other neurodegenerative diseases.

1 Jan 2009

Candesartan shown to be safe new therapy for genetic heart disease

A new clinical trial suggests that long-term use of candesartan, a drug currently used to treat hypertension, may significantly reduce the symptoms of genetic heart disease.

1 Jan 2009