Scientists have identified several new genetic mutations linked to a rare neurodegenerative disease called CSF1R-related disorder (CSF1R-RD). The disease is gaining recognition as the use of genetic ...

Scientists have uncovered a surprising overlap between cancer genetics and Alzheimer’s disease, involving mutations in the ...

Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...

Mutations in FMR1, the gene encoding fragile X messenger ribonucleoprotein 1 (FMRP), located at Xq27.3 and discovered in 1991, are the leading single-gene causes of autism and intellectual disability.

New research from the University of Kansas shows a "risk gene" linked to higher odds of developing autoimmune diseases such ...

Genetic mutations and DNA changes can lead to several health conditions, ranging from mild to life-threatening disorders. Understanding their symptoms, precautions, and expert insights can help with ...

Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially deadly form of ...

A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the CSF1R gene, discovered by Mayo Clinic. Memory loss occurs as the condition ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

—A new study from Switzerland suggests that post-transplant lymphoproliferative disorders (PTLDs) may represent clonal expansions driven by exogenic immunosuppression, Epstein-Barr virus (EBV) ...