A recent review provides insight into the clinical progression of treatment-naive patients with spinal muscular atrophy type 3 who have lost ambulation. Patients with spinal muscular atrophy (SMA) ...

The kidneys play a critical role in filtering toxins, balancing electrolytes, and maintaining overall metabolic homeostasis. When kidney function declines, waste products like urea and creatinine ...

In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across ...

In a recent Molecular Therapy: Nucleic Acids study, researchers demonstrate enhanced loss-of-function editing of clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated ...

Alopecia is an umbrella term for hair loss conditions that are not contagious, though it can sometimes signal other health problems. Some types are autoimmune, while others link to genetics, lifestyle ...