The majority of individuals with Rett syndrome are female and are considered genetically ‘mosaic’ due to random inactivation of the X-chromosome (XCI) which occurs in around half of all their cells.
Rare Disorders
Huntington’s cure in flies lays groundwork for new treatment approaches
Boosting levels of two critical proteins that normally shut down during Huntington’s disease, researchers at UW-Madison and the Cold Spring Harbor Laboratory have cured fruit flies of the genetic, neurodegenerative condition.
Researchers report major advance in gene therapy technique
Despite a roller-coaster ride of ups and downs during the past 15 years, gene therapy has continued to attract many of the world’s brightest scientists.
Baby Picked Good Time, Birthplace
Wisconsin Is In The Forefront Of Genetic Screening, So Infant’s Disorder Was Spotted And Treated. Patricia Simms, Wisconsin State Journal Reprinted by Permission Myles Tesky is an unlikely traveler on the frontier of genetic screening. …