Month: February 2025

Genes tied to epilepsy identified in largest such study: In a sweeping study by 40 scientific teams from around the world, individual genes, gene sets, and gene variants that raise people’s risk of developing epilepsy have been identified using whole-exome sequencing of DNA to compare the genes of 20,979 people with epilepsy to those of 33,444 people without the condition. This is the biggest research effort of its kind, published in Nature Neuroscience, and it could lead to better diagnosis and treatment for epilepsy, a neurological disorder that affects 4 to 10 in 1,000 individuals.

What a difference a week makes. After hundreds of FDA employees were suddenly laid off last weekend — including dozens at the Agency’s device center tasked with reviewing products for clearance and approval — the government has begun rescinding some of those cuts and attempting to rehire lost workers.

While the FDA’s Diversity Guidance for clinical trials has been temporarily restored, the page it is housed on now carries a message from the Trump administration that the guidance “does not reflect biological reality.”

An unknown number of probationary staff at the US Food and Drug Administration (FDA) were fired this past weekend as part of the Trump Administration’s effort to shrink the size of the federal government. While the administration has not provided any specifics on the scope of the reductions, the round of firings, which affected staff across several federal health agencies, targeted workers with fewer employment protections.

First new schizophrenia drug approved in decades: KarXT, the first new schizophrenia medication granted approval in decades, introduces a novel mechanism that activates brain muscarinic receptors to slow the release of dopamine, demonstrating antipsychotic and cognitive benefits without many of the side effects of older drugs. While the drug’s high price and twice-daily dosing regimen present challenges for patients, researchers are working to create alternatives with easier dosing schedules and investigating selective activation of muscarinic receptors to deliver either cognitive or antipsychotic benefits.

Artificial Intelligence (AI) tool goes beyond conventional tools for repurposing drugs: An AI tool called TxGNN identified potential treatments for over 17,000 rare and undiagnosed diseases from about 8,000 medications and predicted side effects and contraindications, according to a study in Nature Medicine. The new tool surpassed the predictive capabilities of conventional models by training on shared genomic features across multiple diseases, improving its ability to extrapolate effective treatments from well- or poorly understood conditions to accelerate the repurposing of drugs.

Doctor aims to support people with cancer after his own diagnosis: Physician Sachin Kulkarni did not expect to be diagnosed with stage 4 colon cancer after deciding it was time for a checkup when he turned 40; however, he approached treatment methodically, thinking about who he was fighting for and recognizing he had to take it one step at a time. Now, with no evidence of disease, Kulkarni is giving back to the community that supported him, advocating and supporting those with cancer and survivors.

Woman with T1D (Type-1 Diabetes) produces insulin after stem cell treatment: A 25-year-old woman with Type 1 Diabetes produced her own insulin after undergoing a transplant using stem cells derived from her body, which were reprogrammed into a pluripotent state, differentiated into 3D islet clusters and then injected into her abdominal muscles for improved monitoring and potential removal. The study, published in Cell, reports that the woman has been maintaining stable blood glucose levels and producing sufficient insulin for over a year without the need for additional injections, although some experts would like to see her producing insulin for five (5) years before considering her cured.