Mutation News and Research

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How to build muscle mass with four and a half LIM domains 1

Mutations in FHL1 are present in several myopathies, including reducing-body myopathy (RBM), but until now, both the molecular mechanisms causing the disease, and the regular function of FHL1 in healthy tissue, remained unknown.

15 Dec 2008

Mouse model shows blood stem cells in action

Over a period of five years, scientists at the Johannes Gutenberg University Mainz have managed to create a genetically modified mouse in which the activity of the blood stem cells can be tracked.

15 Dec 2008

Roche's new dual-target HIV-1 test approved in Europe

Roche announced today that its innovative dual-target HIV-1 test has received CE Mark certification, allowing it to be sold for clinical use in the European Union. The COBAS AmpliPrep/COBAS TaqMan HIV-1 Test, v2.0 utilizes a unique design to simultaneously amplify and detect two separate regions of the HIV-1 genome.

15 Dec 2008

GUMC researchers find gene inactivated in two aggressive cancers

Researchers at Georgetown University Medical Center have found a gene they say is inactivated in two aggressive cancers - malignant melanoma, a form of skin cancer, and glioblastoma multiforme, a lethal brain tumor.

15 Dec 2008

Researchers develop universal influenza vaccine for animals

A University of Maryland-led science team has developed a universal influenza vaccine for animals that may help prevent or delay another human flu pandemic.

14 Dec 2008

Promising clinical trial for Progeria "premature aging" disease

One of the fastest translations of a basic research discovery into a promising clinical trial for an "untreatable" and fatal disorder will be discussed publicly for the first time by the key players in this remarkable research story, on Sunday, Dec. 14, at the American Society for Cell Biology (ASCB)'s annual meeting in San Francisco.

14 Dec 2008

Six new gene variations linked to increased BMI

A genetic study of more than 90,000 people has identified six new genetic variants that are associated with increased Body Mass Index (BMI), the most commonly used measure of obesity.

14 Dec 2008

Possible new therapeutic target for pancreatic cancer

A possible new therapeutic target for pancreatic cancer, the most lethal form of human cancer, has been identified in the proteins whose DNA recipe comes from gene, "Seven-In-Absentia," according to researchers at the American Society for Cell Biology (ASCB) 48th Annual Meeting, Dec. 13-17, 2008 in San Francisco.

14 Dec 2008

Researchers identify how key mutations occur in human lymphomas

Researchers at the Keck School of Medicine of the University of Southern California (USC) have explained how certain key mutations occur in human lymphomas - a process that has, until now, remained a mystery.

12 Dec 2008

Discovery of gene mutation that appears to help prevent heart disease

Researchers at the University of Maryland School of Medicine in Baltimore have discovered a novel gene mutation among the Old Order Amish population that significantly reduces the level of triglycerides in the blood and appears to help prevent cardiovascular disease.

12 Dec 2008

Timothy syndrome provides clues about enzyme role in arrhythmias

A University of Iowa study provides insight into a calcium-sensing enzyme already known to play a role in irregular heartbeats and other critical functions.

12 Dec 2008

New cause of atrial fibrillation found

A new study shows that atrial fibrillation--the most common form of sustained heart arrhythmia--can be caused in an unexpected way.

12 Dec 2008

New understanding on how the brain controls onset of puberty

A team of scientists from the University of Cambridge and the University of Cukurova in Turkey have taken a major step to understanding how the brain controls the onset of puberty.

12 Dec 2008

Trial looks at new treatment for solid cancer tumors and non-Hodgkin's lymphoma

Researchers at The Cancer Institute of New Jersey (CINJ) have opened a clinical trial, which aims to evaluate a new treatment for solid cancer tumors and non-Hodgkin's lymphoma (NHL) in combination with a chemotherapy agent called cyclophosphamide.

12 Dec 2008

Scientists show that HIV's evolution in the body does not occur at a constant rate

HIV is so deadly largely because it evolves so rapidly. With a single virus as the origin of an infection, most patients will quickly come to harbor thousands of different versions of HIV, all a little bit different and all competing with one another to most efficiently infect that person's cells. Its rapid and unique evolution in every patient is what allows HIV to evade the body's defenses and gives the virus great skill at developing resistance to a pantheon of antiviral drugs.

12 Dec 2008

Cause of uveal melanoma discovered, most common eye cancer

A University of British Columbia geneticist has discovered a gene mutation that can cause the most common eye cancer - uveal melanoma.

10 Dec 2008

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