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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

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

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

Insight into mechanical properties that break the outer segment of photoreceptors

Light-sensing cells in the eye rely on their outer segment to convert light into neural signals that allow us to see. But because of its unique cylindrical shape, the outer segment is prone to breakage, which can cause blindness in humans. A study published by Cell Press on January 22nd in the Biophysical Journal provides new insight into the mechanical properties that cause the outer segment to snap under pressure.

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

New special issue explores link between evolution and the body's fight against cancer

Over 500 billion cells in our bodies will be replaced daily, yet natural selection has enabled us to develop defenses against the cellular mutations which could cause cancer. It is this relationship between evolution and the body's fight against cancer which is explored in a new special issue of the Open Access journal Evolutionary Applications.

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

Biophysical Society Annual Meeting to highlight innovations in medicine, physics, and more

Honeybee silk-inspired materials; a deconstruction of the Ebola virus; how microbes evolve resistance to antibiotics; and a possible connection between Alzheimer's disease and type II diabetes are just some of the intriguing topics that will be presented at the 57th Annual Meeting of the Biophysical Society (BPS).

22 Jan 2013

BRCA1-deficient cancer cells take advantage of DNA repair mechanism

Cancer cells are resourceful survivors with plenty of tricks for staying alive. Researchers have uncovered one of these stratagems, showing how cells lacking the tumor suppressor BRCA1 can resume one form of DNA repair, sparing themselves from stagnation or death. The study appears in the January 21st issue of The Journal of Cell Biology.

22 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

Stage IV cancer cells even more susceptible to grape seed extract than stage II

When the going gets tough, grape seed extract gets going: A University of Colorado Cancer Center study recently published in the journal Cancer Letters shows that the more advanced are colorectal cancer cells, the more GSE inhibits their growth and survival. On the other end of the disease spectrum, GSE leaves healthy cells alone entirely.

19 Jan 2013

New method may help predict response to chemotherapy for bowel cancer

Scientists at the Royal College of Surgeons in Ireland (RCSI) and Beaumont Hospital have developed a new method of predicting which patients with bowel (colorectal) cancer will respond effectively to chemotherapy. The results of this study are published in the current issue of the prestigious Cancer Research journal.

19 Jan 2013

SPARC protein acts much like ibuprofen to heal tissues inflamed by tumors

Cancer researchers are increasingly aware that in addition to genetic mutations in a cancer itself, characteristics of the surrounding tissue can promote or suppress tumor growth. One of these important tissue characteristics is inflammation - most cancers prosper in and attach to inflamed tissue and so many cancers have developed ways to create it.

19 Jan 2013

Stress in adolescence can cause severe mental illness in young adulthood

Working with mice, Johns Hopkins researchers have established a link between elevated levels of a stress hormone in adolescence — a critical time for brain development — and genetic changes that, in young adulthood, cause severe mental illness in those predisposed to it.

18 Jan 2013

Lack of Mthfd1l enzyme causes neural tube defects in developing embryos

Researchers at The University of Texas at Austin have discovered that the lack of a critical enzyme in the folic acid metabolic pathway leads to neural tube birth defects in developing embryos.

18 Jan 2013

New compounds can target RNase H enzyme in HIV

Scientists who study HIV are facing a troubling consequence of their own success. They created drugs that can now give infected patients almost normal life expectancy. However, those same drugs will eventually cause the constantly mutating virus to evolve into a form that eludes current treatments.

18 Jan 2013

Mutation News and Research

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

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

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

UB scientists propose first genomic explanation for schizophrenia

Insight into mechanical properties that break the outer segment of photoreceptors

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

New special issue explores link between evolution and the body's fight against cancer

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

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

Biophysical Society Annual Meeting to highlight innovations in medicine, physics, and more

BRCA1-deficient cancer cells take advantage of DNA repair mechanism

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

Stage IV cancer cells even more susceptible to grape seed extract than stage II

New method may help predict response to chemotherapy for bowel cancer

SPARC protein acts much like ibuprofen to heal tissues inflamed by tumors

Stress in adolescence can cause severe mental illness in young adulthood

Lack of Mthfd1l enzyme causes neural tube defects in developing embryos

New compounds can target RNase H enzyme in HIV

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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