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Researchers identify key element in the development of Burkitt lymphoma

Burkitt lymphoma is a malignant, fast-growing tumor that originates from a subtype of white blood cells called B lymphocytes of the immune system and often affects internal organs and the central nervous system. Now Dr. Sandrine Sander and Professor Klaus Rajewsky of the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch have identified a key element that transforms the immune cells into malignant lymphoma cells.

14 Aug 2012

Pathway describes how alpha hydroxyl acids cause skin exfoliation

A team of investigators from UC Davis and Peking University have discovered a mechanism that may explain how alpha hydroxyl acids (AHAs) -- the key ingredient in cosmetic chemical peels and wrinkle-reducing creams -- work to enhance skin appearance. An understanding of the underlying process may lead to better cosmetic formulations as well as have medical applications.

14 Aug 2012

Scientists identify new genetic alterations underlying high-risk subtype of ALL

Scientists have identified new genetic alterations underlying a high-risk subtype of the most common childhood cancer that could be effectively targeted with existing leukemia therapies.

14 Aug 2012

BUSM part of Transthyretin Amyloidosis Cardiac Study

Researchers at Boston University School of Medicine (BUSM) have been part of a multicenter observational study called TRACS (Transthyretin Amyloidosis Cardiac Study) to help determine the health significance of a particular gene mutation which is commonly found in Black Americans.

14 Aug 2012

Novel Cornelia de Lange syndrome gene discovered

Scientists have discovered that mutations in the histone deacetylase 8 gene can cause the rare genetic disorder known as Cornelia de Lange syndrome, which is characterized by intellectual disability, limb deformity, and other disabilities resulting from problems in early development.

13 Aug 2012

Researchers identify new gene in Cornelia deLange syndrome

Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development.

13 Aug 2012

Researchers discover gene mutations linked to spinocerebellar ataxia

A global hunt for the cause of a crippling inherited nerve disorder has found its target. The discovery opens the door for better diagnosis and treatment of this particular disease - but also for better understanding of why nerves in the brain's movement-controlling center die, and how new DNA-mapping techniques can find the causes of other diseases that run in families.

13 Aug 2012

Insight into ubiquitin system

A faulty gene linked to a rare blood vessel disorder has led investigators to discover a mechanism involved in determining the fate of possibly thousands of proteins working inside cells.

13 Aug 2012

HDAC8 gene mutations cause Cornelia deLange syndrome

13 Aug 2012

Study investigates why organisms retain seemingly unnecessary stages in their development

Why, after millions of years of evolution, do organisms build structures that seemingly serve no purpose? A study conducted at Michigan State University and published in the current issue of The American Naturalist investigates the evolutionary reasons why organisms go through developmental stages that appear unnecessary.

13 Aug 2012

Scientists discover how pten gene causes brain changes that lead to autism-like behavior

Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for drugs to treat the condition.

13 Aug 2012

Reducing copper in the body delays onset of prion disease

Many of us are familiar with prion disease from its most startling and unusual incarnations-the outbreaks of "mad cow" disease (bovine spongiform encephalopathy) that created a crisis in the global beef industry. Or the strange story of Kuru, a fatal illness affecting a tribe in Papua New Guinea known for its cannibalism. Both are forms of prion disease, caused by the abnormal folding of a protein and resulting in progressive neurodegeneration and death.

13 Aug 2012

Research on language gene seeks to uncover origins of the singing mouse

Singing mice (Scotinomys teguina) are not your average lab rats. Their fur is tawny brown instead of the common white albino strain; they hail from the tropical cloud forests in the mountains of Costa Rica; and, as their name hints, they use song to communicate.

12 Aug 2012

Molecular missteps disrupt brain function in adult-onset muscular dystrophy

The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study published by Cell Press. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as excessive daytime sleepiness, memory problems, and mental retardation.

10 Aug 2012

Nematode worms help identify potential cancer targets

Through novel experiments involving small nematode worms, scientists from Wyoming have discovered several genes that may be potential targets for drug development in the ongoing war against cancer. Specifically, researchers hypothesize that inhibiting these genes could reverse certain key traits associated with cancer cells.

10 Aug 2012

Progression-free NSCLC survival boosted by dacomitinib

In patients with non-small-cell lunch cancer, dacomitinib confers a significant progression-free survival benefit over erlotinib across a range of clinical and molecular subgroups, the results of an international study indicate.

8 Aug 2012

Clovis Oncology reports net loss of $15.7 million for second quarter 2012

Clovis Oncology, Inc. today reported financial results for the second quarter 2012, and provided an update on the progress of its clinical development programs and expected milestones for the rest of the year.

8 Aug 2012

WSU researchers to test novel hypothesis that cardiolipin deficiency leads to disruption of TCA cycle

Barth Syndrome (BTHS) is a rare and serious genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder. Fifty percent of children born to a mother who is a carrier will inherit the defective gene, and all daughters born to an affected man will be carriers. BTHS is caused by a mutation in the tafazzin gene that results in decreased production of cardiolipin, an essential lipid for energy metabolism.

8 Aug 2012

Studies identify genetic mutations that play important roles in startle disease

Two studies published in the Journal of Biological Chemistry identify genetic mutations that play important roles in the condition commonly referred to as startle disease. Startle disease is characterized by an exaggerated response to noise and touch, which can interfere with breathing, cause catastrophic falls and even result in death.

8 Aug 2012

Creating new non-influenza vaccines: an interview with Julie Phillips, CEO of BioDiem

BioDiem recently signed a collaborative agreement with The Royal Melbourne Institute of Technology (RMIT) for the development of non-influenza vaccines using BioDiem’s proprietary live attenuated influenza virus (LAIV) technology.

7 Aug 2012