Gene News and Research

Latest Gene News and Research

Researchers pinpoint several inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism.

23 Jan 2013

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Large-scale genomic sequencing has revealed two DNA mutations that appear to drive about 15 percent of brain tumors known as meningiomas, a finding that could lead to the first effective drug treatments for the tumors, report scientists from Dana-Farber Cancer Institute and the Broad Institute.

23 Jan 2013

Gene therapy does not slow or halt progression of cell loss in Leber congenital amaurosis

Independent clinical trials, including one conducted at the Scheie Eye Institute at the Perelman School of Medicine, have reported safety and efficacy for Leber congenital amaurosis (LCA), a congenital form of blindness caused by mutations in a gene (RPE65) required for recycling vitamin A in the retina. Inherited retinal degenerative diseases were previously considered untreatable and incurable.

23 Jan 2013

CD98hc molecule appears to be necessary for rapid and effective skin renewal

These mechanisms, described in vivo in mice, engage molecule CD98hc, which is involved in epidermis renewal and could be an indicator of the skin's capacity for regeneration.

23 Jan 2013

Study details exactly how Her2 gene promotes progression and spread of breast cancer cells

Research led by Dr. Suresh Alahari, the Fred Brazda Professor of Biochemistry and Molecular Biology at LSU Health Sciences Center New Orleans and its Stanley S. Scott Cancer Center, details exactly how the Her2 cancer gene promotes the progression and spread of breast cancer cells.

23 Jan 2013

Novel way to engineer specialized immune cells targeted by the AIDS virus

Researchers at the Stanford University School of Medicine have found a novel way to engineer key cells of the immune system so they remain resistant to infection with HIV, the virus that causes AIDS.

23 Jan 2013

Studies identify cellular pathways involved in governing day-night pattern of circadian rhythms

UC Irvine-led studies have revealed the cellular mechanism by which circadian rhythms - also known as the body clock - modify energy metabolism and also have identified novel compounds that control this action. The findings point to potential treatments for disorders triggered by circadian rhythm dysfunction, ranging from insomnia and obesity to diabetes and cancer.

23 Jan 2013

Research on dystrophin gene sequence could lead to treatments for Duchenne muscular dystrophy

Muscular dystrophy is caused by the largest human gene, a complex chemical leviathan that has confounded scientists for decades. Research conducted at the University of Missouri and described this month in the Proceedings of the National Academy of Sciences has identified significant sections of the gene that could provide hope to young patients and families.

23 Jan 2013

UB scientists propose first genomic explanation for schizophrenia

New University at Buffalo research demonstrates how defects in an important neurological pathway in early development may be responsible for the onset of schizophrenia later in life.

23 Jan 2013

SLU team discovers molecular pathway that contributes to triple-negative breast cancer

In research published in the Jan. 17 issue of The Journal of Cell Biology, a team led by Susana Gonzalo, Ph.D., assistant professor of biochemistry and molecular biology at Saint Louis University, has discovered a molecular pathway that contributes to triple-negative breast cancer, an often deadly and treatment resistant form of cancer that tends to strike younger women.

23 Jan 2013

ParseCNV software can detect disease-causing copy number variations

A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software.

22 Jan 2013

Brown biology professor named Pew's Scholar of the Month

Biologist Erica Larschan, Ph.D., was named by The Pew Charitable Trusts as the "Scholar of the Month," for her innovative findings on chromosomal activity in fruit flies.

22 Jan 2013

Mitsubishi Tanabe Pharma in-licenses CETP inhibitor to Dezima Pharma

Dezima Pharma ('Dezima'), the biotechnology company developing innovative drugs in the field of dyslipidemia, announced today the in-licensing of a cholesteryl ester transfer protein (CETP) inhibitor DEZ-001 (formerly TA-8995) from Mitsubishi Tanabe Pharma Corporation (MTPC). Terms of the deal were not disclosed.

22 Jan 2013

Family members with rare gene mutation at high risk of developing schizophrenia

Johns Hopkins researchers have identified a rare gene mutation in a single family with a high rate of schizophrenia, adding to evidence that abnormal genes play a role in the development of the disease.

22 Jan 2013

Gene therapy improves vision but does not halt progression of cell loss

22 Jan 2013

Winning the genetic body odor lottery could save on deodorant

Research shows that people who have two copies of the minor allele of a single nucleotide polymorphism found in the ABCC11 gene could save money on deodorant as they are genetically odorless.

21 Jan 2013

Scientists discover role of OTUD7B enzyme as TRAF3's protector

Marked for death with molecular tags that act like a homing signal for a cell's protein-destroying machinery, a pivotal enzyme is rescued by another molecule that sweeps the telltale targets off in the nick of time.

21 Jan 2013

Scientists identify a possible lead in treatment of two childhood leukemia subtypes

Research led by St. Jude Children's Research Hospital scientists has identified a possible lead in treatment of two childhood leukemia subtypes known for their dramatic loss of chromosomes and poor treatment outcomes.

21 Jan 2013

Study refocuses on how neuroblastoma tumors evolve in response to medicine and other factors

An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expectations, the scientists found relatively few recurrent gene mutations—mutations that would suggest new targets for neuroblastoma treatment. Instead, say the researchers, they have now refocused on how neuroblastoma tumors evolve in response to medicine and other factors.

21 Jan 2013

Researchers identify clear role for tags in mediating genetic risk for rheumatoid arthritis

In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA), an immune disorder that afflicts an estimated 1.5 million American adults.

21 Jan 2013

Gene News and Research

Latest Gene News and Research

Researchers pinpoint several inherited mutations in autism

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Gene therapy does not slow or halt progression of cell loss in Leber congenital amaurosis

CD98hc molecule appears to be necessary for rapid and effective skin renewal

Study details exactly how Her2 gene promotes progression and spread of breast cancer cells

Novel way to engineer specialized immune cells targeted by the AIDS virus

Studies identify cellular pathways involved in governing day-night pattern of circadian rhythms

Research on dystrophin gene sequence could lead to treatments for Duchenne muscular dystrophy

UB scientists propose first genomic explanation for schizophrenia

SLU team discovers molecular pathway that contributes to triple-negative breast cancer

ParseCNV software can detect disease-causing copy number variations

Brown biology professor named Pew's Scholar of the Month

Mitsubishi Tanabe Pharma in-licenses CETP inhibitor to Dezima Pharma

Family members with rare gene mutation at high risk of developing schizophrenia

Gene therapy improves vision but does not halt progression of cell loss

Winning the genetic body odor lottery could save on deodorant

Scientists discover role of OTUD7B enzyme as TRAF3's protector

Scientists identify a possible lead in treatment of two childhood leukemia subtypes

Study refocuses on how neuroblastoma tumors evolve in response to medicine and other factors

Researchers identify clear role for tags in mediating genetic risk for rheumatoid arthritis

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