C-section delivery does not decrease at-birth fracture rates in infants with rare bone disease

C-section delivery does not decrease at-birth fracture rates in infants with rare bone disease

By Glenna Vickers Babies born with a rare bone disorder known as osteogenesis imperfecta do not have fewer bone fractures at birth when delivered surgically (a Cesarean delivery), said a consortium of researchers led by Baylor College of Medicine. The new research, published in the journal Genetics in Medicine, is the first study to come … Continue reading

Missing “copy” of Jag1 gene results in mouse model for Alagille syndrome

Missing “copy” of Jag1 gene results in mouse model for Alagille syndrome

By Julia Parsons  When mice usually used in studies of genetic disease lack a copy of the jagged gene (Jag1), they have many of the characteristics, including bile duct abnormalities, of human Alagille syndrome, a developmental disorder characterized by bile duct and cardiovascular defects, as well as abnormalities in other organs, reported Baylor College of … Continue reading

Normal levels of “Goldilocks” protein in mouse model restores neurologic function in MECP2 duplication syndrome

Normal levels of “Goldilocks” protein in mouse model restores neurologic function in MECP2 duplication syndrome

By Ruth SoRelle, M.P.H. For 15 years and more, Dr. Huda Zoghbi, professor of molecular and human genetics at Baylor College of Medicine, and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, and her team have worked with the “Goldilocks” protein, MeCP2. Too little of the protein results in Rett … Continue reading