2 Center for Biomedical Informatics, Bioinformatics Department, Rutgers Cancer Institute, Rutgers University, New Brunswick, New Jersey, USA.
Category: biotech/medical – Page 36
Inflammation may drive Dravet syndrome, offering a potential new treatment target
An overactive immune response in the brain may play a role in Dravet syndrome, a rare and severe genetic epilepsy that typically begins in infancy, according to Weill Cornell Medicine researchers. Children with the condition experience frequent seizures that are often difficult to control with medication and may also face developmental, cognitive and behavioral challenges. Until now, most research has focused on how a mutation in the SCN1A gene disrupts electrical signaling in the brain.
“Rather than being a disorder only involving abnormal electrical signaling, the disease may also involve a self-sustaining immune response triggered by DNA released from stressed neurons,” said study senior author Dr. Li Gan, the Burton P. and Judith B. Resnick Distinguished Professor in Neurodegenerative Diseases and director of the Helen and Robert Appel Alzheimer’s Disease Research Institute at Weill Cornell. “As a result, inflammation may help drive and sustain the disease. This finding links seizures to the brain’s immune system in a way that had not been fully appreciated before.”
The new preclinical study, published July 29 in Nature Neuroscience, identified an inflammatory pathway called cGAS-STING-interferon (IFN-I) signaling as a major contributor to disease progression. Blocking this molecular pathway could lead to new therapeutic strategies for epilepsy disorders.
One overlooked sign of aging may reveal dementia risk years earlier
Frailty was assessed using a frailty index, which takes into account a wide range of health and functional measures. Researchers classified participants with scores of 0.25 or higher as frail.
The results showed that frailty was associated with developing dementia at a younger age. Overall, frail individuals received a dementia diagnosis approximately two to three years earlier than those who were not frail.
“The best approach to preventing or reducing frailty is a combination of regular physical activity, particularly strength training, and a diet that ensures adequate protein intake,” study co-author Dr. David Ward, a research fellow in aging and geriatric medicine at the Centre for Health Services Research, Faculty of Medicine at the University of Queensland, told Newsweek.
RNA Medicines, Human Genetics & The Future of Obesity Treatment | Dr. Erik Ingelsson
Dr. Erik Ingelsson, MD, PhD — Chief Scientific Officer of Wave Life Sciences.
For decades we’ve measured obesity using one simple number on a scale — but what if that’s the wrong metric? Today, one of the world’s leading experts in genetics explains why the future of obesity medicine may not be about losing more weight, but about losing the right kind of fat while preserving the muscle that keeps us healthy.
Dr. Erik Ingelsson, MD, PhD is a physician-scientist and internationally recognized leader in human genetics, genomics, and metabolic disease research. He currently serves as Chief Scientific Officer at Wave Life Sciences (https://wavelifesciences.com/), where he leads the development of next-generation RNA medicines designed to address major unmet medical needs.
Before joining Wave, Dr. Ingelsson served as Senior Vice President and Head of Target Discovery at GSK, where he led large-scale efforts integrating human genetics, functional genomics, computational biology, and molecular science to discover and validate new drug targets across therapeutic areas.
Prior to his transition into industry, Dr. Ingelsson was Professor of Medicine at Stanford University, where his laboratory used human genetics and functional genomics to uncover new biological mechanisms underlying insulin resistance, obesity, metabolic disease, and cardiovascular risk.