Genetics & Molecular Biology

Using data from over 18,000 patients, scientists have identified more than two dozen genetic risk factors involved in Parkinson's disease, including six that had not been previously reported. 

Affecting millions of people worldwide, Parkinson's disease is a degenerative disorder that causes movement problems, including trembling of the hands, arms, or legs, stiffness of limbs and trunk, slowed movements and problems with posture. Over time, patients may have difficulty walking, talking, or completing other simple tasks. Although nine genes have been shown to cause rare forms of Parkinson's disease, scientists continue to search for genetic risk factors to provide a complete genetic picture of the disorder.


In 2012, scientists involved in the ENCODE (Encyclopedia of DNA Elements) project stated that 80% of our genome is functional - that it has some biochemical function. 

The finding was controversial, with critics arguing that the biochemical definition of 'function' was too broad - just because an activity on DNA occurs, it does not necessarily have a consequence. For functionality, you need to demonstrate that an activity matters. 


Researchers have successfully used a new and potentially safer method to stimulate ovulation in women undergoing IVF treatment.  One in six couples in the UK experiences infertility, and 48,147 women underwent IVF treatment in 2011. 


The International Wheat Genome Sequencing Consortium recently published a chromosome-based draft sequence of wheat's genetic code - its genome.


Cardiologists have developed a minimally invasive gene transplant procedure that changes unspecialized heart cells into 'biological pacemaker' cells that keep the heart beating. 

The laboratory animal research is the result of a dozen years of research with the goal of developing biological treatments for patients with heart rhythm disorders who currently are treated with surgically implanted pacemakers.

In the United States, an estimated 300,000 patients receive pacemakers every year.  If future research is successful, the procedure could be ready for human clinical studies in about three years.  


Investigators have identified a gene that underlies a very rare but devastating autoinflammatory condition in children. Several existing drugs have shown therapeutic potential in laboratory studies, and one is currently being studied in children with the disease, which the researchers named STING-associated vasculopathy with onset in infancy (SAVI).  

Autoinflammatory diseases are a class of conditions in which the immune system, seemingly unprovoked, becomes activated and triggers inflammation. Normally, the inflammatory response helps quell infections, but the prolonged inflammation that occurs in these diseases can damage the body.


Neuroscientists have created mutant worms that don't get intoxicated by alcohol, by inserting a modified human alcohol target into the worms.

An alcohol target is any neuronal molecule that binds alcohol, of which there are many.

One important aspect of this modified alcohol target, a neuronal channel called the BK channel, is that the mutation only affects its response to alcohol. The BK channel typically regulates many important functions including activity of neurons, blood vessels, the respiratory tract and bladder. The alcohol-insensitive mutation does not disrupt these functions at all.

The work that could lead to new drugs to treat the symptoms of people going through alcohol withdrawal.  


Biophysics researchers recently used short pulses of light to peer into the mechanics of photosynthesis to try and determine the role of molecule vibrations in the energy conversion process that powers life on earth.   

Through photosynthesis, plants and some bacteria turn sunlight, water and carbon dioxide into food for themselves and oxygen for animals to breathe. It's perhaps the most important biochemical process on Earth and scientists don't yet fully understand how it works.  New 'quantum biology' findings could potentially help engineers make more efficient solar cells and energy storage systems and provide evidence for exactly how photosynthesis manages to be so efficient.  


Eosinophillic esophagitis (EoE) is a chronic inflammatory disorder of the esophagus. The condition is triggered by allergic hypersensitivity to certain foods and an over-accumulation in the esophagus of white blood cells called eosinophils.

EoE can cause a variety of gastrointestinal complaints including reflux-like symptoms, vomiting, difficulty swallowing, tissue scarring, fibrosis, the formation of strictures and other medical complications. 

New research has identified a novel genetic and molecular pathway in the esophagus that causes eosinophillic esophagitis, opening up potential new therapeutic strategies for an enigmatic and hard-to-treat food allergy. 


Since stem cell research became common 50 years ago, scientists have been trying to unravel mechanisms that guide function and differentiation of blood stem cells, those cells that generate all blood cells including our immune system.

Study of human blood stem cells is challenging because they can only be found in the bone marrow in specialized "niches" that cannot be recapitulated in a culture dish.