Scientists at Brigham and Women's Hospital and Harvard Medical School have developed a targeted genetic test to improve diagnosis for X-linked dystonia-parkinsonism (XDP), a rare and disabling ...

Extra X chromosomes significantly increase the risk for systemic lupus erythematosus (SLE) and Sjögren disease, with the prevalence of these conditions being higher among patients with Klinefelter and ...

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.

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, according to EURORDIS. These conditions often go undiagnosed for years due to ...

X chromosome reactivation contributes to reducing the signs of disease in the female brain. Female cells have two X chromosomes and male cells have one X chromosome and one Y chromosome. So that the ...