A new mutation has been discovered in the MECP2 gene – associated with most cases of Rett syndrome – in a toddler with clinical features suggestive of congenital variant-type Rett syndrome, one of the most severe atypical forms of the disease. The child had hypercapnia, or high levels of carbon dioxide in her blood, but …
Recently identified MECP2 gene mutation linked to congenital Rett syndrome… Read More »
A recent study published in The Lancet Infectious Diseases review describes the genetic epidemiology and dynamics of the parasite Plasmodium falciparum responsible for malaria outbreaks in Attapeu Province, Laos, during the 2020-2021 malaria season. Study: Laos malaria epidemic caused by a selective sweep of Plasmodium falciparum kelch13 R539T mutants: a genetic epidemiological analysis. Image Credit: …
An international team of scientists led by Mass Eye and Ear, member of Mass General Brigham, and Boston Children’s Hospital, have discovered a new genetic mutation that may cause severe cases of childhood glaucoma, a disease that plagues children. families and can rob children of their vision at age 3. According to a statement from …
A new genetic mutation at the origin of childhood glaucoma identified Read More »
