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Reprogramming eye cells that enable night vision may one day treat retinitis pigmentosa

Doctors may one day treat some forms of blindness by altering the genetic program of the light-sensing cells of the eye, according to scientists at Washington University School of Medicine in St. Louis.

29 Jan 2013

DRCRF announces recipients of Nov. 2012 Damon Runyon Fellows

The Damon Runyon Cancer Research Foundation, a non-profit organization focused on supporting innovative early career researchers, named 15 new Damon Runyon Fellows at its fall Fellowship Award Committee review.

29 Jan 2013

Researchers unveil first maturation-based ‘disease in a dish’ model for ARVD/C

Most patients with an inherited heart condition known as arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) don't know they have a problem until they're in their early 20s. The lack of symptoms at younger ages makes it very difficult for researchers to study how ARVD/C evolves or to develop treatments. A new stem cell-based technology created by 2012 Nobel Prize winner Shinya Yamanaka, M.D., Ph.D., helps solve this problem.

29 Jan 2013

Five genes hold key to meningioma make up

Research published in Science shows that mutations in five genes characterize most meningiomas.

28 Jan 2013

Skin cells transformed into heart cells for research into cardiomyopathy

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28 Jan 2013

The LINC complex essential for hearing

In this issue of the Journal of Clinical Investigation, Karen Avraham and colleagues at Tel Aviv University identified a genetic mutation in two families with hereditary high frequency hearing loss. The mutated gene, which has not previously been linked to hearing loss, encodes NESP4, a protein that is expressed in the outer nuclear membrane (ONM) of the hair cells of the ear.

28 Jan 2013

Alzheimer's Association, SNMMI publish appropriate use criteria for brain amyloid imaging with PET

Only recently has it become possible to create high-quality images of the brain plaques characteristic of Alzheimer's disease in living people through positron emission tomography (PET). Even so, questions remain about what can be learned from these PET images and which people should have this test.

28 Jan 2013

Telomerase gene mutation immortalizes deadly skin cancer

About ten percent of all cases of malignant melanoma are familial cases. The genome of affected families tells scientists a lot about how the disease develops. Prof. Dr. Rajiv Kumar of the German Cancer Research Center together with Prof. Dr. Dirk Schadendorf from Essen University Hospital studied a family where 14 family members were affected by malignant melanoma.

28 Jan 2013

Reducing the level of mutant p53 gene increases susceptibility to cancer treatment

Scientists from the National Cancer Centre Singapore (NCCS) have discovered the workings of the gene that has been hindering treatment response in cancer patients. This discovery was made after 5 years of studying the mutant form of the p53 gene, the major tumor suppressor in humans, which is generally found mutated in over 50% of all type of human cancers.

27 Jan 2013

Researchers identify cancer-associated mutations

Two new mutations that collectively occur in 71 percent of malignant melanoma tumors have been discovered in what scientists call the "dark matter" of the cancer genome, where cancer-related mutations haven't been previously found.

25 Jan 2013

Voluntary moratorium on H5N1 research ends; fate of U.S.-funded research unknown

"Almost a year after they announced it, leading influenza researchers are ending a voluntary moratorium on certain types of controversial experiments involving the H5N1 avian influenza virus."

25 Jan 2013

Genome sequencing data gives important clues on cancer

Genome sequencing data once regarded as junk is now being used to gain important clues to help understand disease.

25 Jan 2013

Targeting key HIV protein could stop HIV infection from progressing to AIDS

Researchers at the University of Pittsburgh School of Medicine may have found an "Achilles heel" in a key HIV protein. In findings published online today in Chemistry and Biology, they showed that targeting this vulnerable spot could stop the virus from replicating, potentially thwarting HIV infection from progressing to full-blown AIDS.

25 Jan 2013

Research shows brain cells regulate blood vessel development

Zhen Huang freely admits he was not interested in blood vessels four years ago when he was studying brain development in a fetal mouse. Instead, he wanted to see how changing a particular gene in brain cells called glia would affect the growth of neurons.

25 Jan 2013

Normalizing p62 protein levels in immune system cells could reduce infection in CF patients

New research suggests that lowering excessive levels of a protein in immune system cells could be a strategy to clear an infection that is deadly to patients with cystic fibrosis (CF).

23 Jan 2013

World Cancer Day to focus on awareness and prevention, importance of research

Cancer takes the lives of some 7.6 million people worldwide each year, according to the World Health Organization. And while the upcoming World Cancer Day will focus on a global message of cancer awareness and prevention, the importance of cancer research also will resonate.

23 Jan 2013

BH3-mimetics might be new option for treatment of autoimmune conditions

Melbourne researchers have discovered that the death of immune system cells is an important safeguard against the development of diseases such as type 1 diabetes, rheumatoid arthritis and lupus, which occur when the immune system attacks the body's own tissues.

23 Jan 2013

Tall, thin women face increased risk of infection with nontuberculous mycobacteria

Tall, thin women face a greater risk of infection with nontuberculous mycobacteria (NTM), cousins of the organism that causes tuberculosis, according to researchers at National Jewish Health. Women with NTM infections also showed a weakened immune response associated with their fat cells, in a paper published in the Jan. 15, 2013, issue of The American Journal of Respiratory and Critical Care.

23 Jan 2013

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