Contact Information Available for logged-in reporters only Newswise (PHILADELPHIA) Researchers at Penn Medicine have discovered that the tumor suppressor gene folliculin (FLCN) is essential to normal lung function in patients with the rare disease Birt-Hogg-Dube (BHD) syndrome, a genetic disorder that affects the lungs, skin and kidneys. Folliculins absence or mutated state has a cascading effect that leads to deteriorated lung integrity and an impairment of lung function, as reported in their findings in the current issue of Cell Reports. We discovered that without normal FLCN the alveolar epithelial cells (AEC) in these patients lungs began to die, leading to holes in the lungs that grow as increasing numbers of cells disappear. These holes can fill with air and burst, causing the lungs to collapse, says Vera Krymskaya, PhD, MBA, associate professor of Medicine at the Perelman School of Medicine at the University of Pennsylvania, and researcher in the Airway Biology Initiative of the department of Pulmonary, Allergy and Critical Care. Between 80 and 100 percent of patients with BHD will develop multiple holes or cysts in the lung. Healthy human alveoli, the terminal ends of the respiratory tree, are lined with type I and type II alveolar epithelial cells … Continue reading →

April 10, 2014 Image Caption: Independent genetic circuits are linked within single cells, illustrated under the magnifying glass, then coupled via quorum sensing at the colony level. Credit: Arthur Prindle, UC San Diego By Kim McDonald, UC San Diego Programming living cells offers the prospect of harnessing sophisticated biological machinery for transformative applications in energy, agriculture, water remediation and medicine. Inspired by engineering, researchers in the emerging field of synthetic biology have designed a tool box of small genetic components that act as intracellular switches, logic gates, counters and oscillators. But scientists have found it difficult to wire the components together to form larger circuits that can function as genetic programs. One of the biggest obstacles? Dealing with a small number of available wires. A team of biologists and engineers at UC San Diego has taken a large step toward overcoming this obstacle. Their advance, detailed in a paper which appears in this weeks advance online publication of the journal Nature, describes their development of a rapid and tunable post-translational coupling for genetic circuits. This advance builds on their development of biopixel sensor arrays reported in Nature by the same group of scientists two years ago. The problem the researchers … Continue reading →

illustration by: Ravi Jadhav Stem cells and gene hold promising treatment options for Parkinson's Disease, say doctors across the globe, including those in Mumbai. Eleven trials to test stem cell and gene therapies for treating the disease are currently underway. In Mumbai, however, only two out of these 11 trials were being done resource constraints led to one being canned and regulatory hurdles have put the other one on hold. Currently, neuro-augmentative therapies, such as usage of drugs or deep brain stimulation (DBS), are being used to treat Parkinson's Disease. "The future holds hope for neuro-restorative therapies like that of stem cells or gene infusion. Stem cells are the very primary kind of cells which can take on the function of any body part's cells after their infusion with that body part. It (the treatment) involves restoration of brain function to normal. In the next five to seven years, this may pave the way for the future," said Dr Paresh Doshi, neurologist at Jaslok Hospital on Peddar Road. Doshi said trial of Duodopa therapy, which involves infusion of an active ingredient gel called Levodopa in the intestines, has been kept on hold. Jaslok Hospital was the only centre in the … Continue reading →