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: …
Chagas disease, caused by the protozoan parasite Trypanosoma cruzi, affects some 8 million people worldwide. More than a third develop serious heart or digestive problems with an increased risk of death. The process that leads to this clinical condition is not completely understood. An article published in the journal Biomedicines describes a study by Brazilian …
Discovery paves way for development of new therapies for Chagas disease Read More »
New genetic mutation may cause severe childhood cases glaucomaa debilitating disease that runs in families and can lead to vision loss in children as young as three years old, a study has found. The discovery was made by an international team of researchers led by Mass Eye and Ear, a division of Mass General Brigham, …
Researchers reveal new genetic mutation cause of childhood glaucoma Read More »
