A cautionary tale on genome-sequencing diagnostics for rare diseases
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
Genetics
May 10, 2013 |
3 / 5 (1) |
0
|
Geneticists find causes for severe childhood epilepsies
(Medical Xpress)—Using a state-of-the-art DNA sequencing technique, UA researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.
Neuroscience
May 07, 2013 |
5 / 5 (1) |
0
|
Faulty energy production in brain cells leads to disorders ranging from Parkinson's to intellectual disability
Neuroscientist Patrik Verstreken of VIB (Flanders Institute for Biotechnology) and KU Leuven has shown for the first time that dysfunctional mitochondria in brain cells can lead to learning disabilities. The link between ...
Parkinson's & Movement disorders
May 17, 2013 |
4 / 5 (2) |
0
Advance in tuberous sclerosis brain science
Doctors often diagnose tuberous sclerosis complex (TSC) based on the abnormal growths the genetic disease causes in organs around the body. Those overt anatomical structures, however, belie the microscopic ...
Neuroscience
May 09, 2013 |
not rated yet |
0
New study examines social isolation of young adults with autism spectrum disorder
Young adults with an autism spectrum disorder (ASD) are more likely to never see friends, never get called by friends, never be invited to activities and be socially isolated.
Autism spectrum disorders
May 02, 2013 |
5 / 5 (1) |
0
Bigger birth weight babies at greater risk of autism
(Medical Xpress)—The biggest study of fetal growth and autism to date has reported that babies whose growth is at either extreme in the womb are at greater risk of developing autism.
Autism spectrum disorders
May 01, 2013 |
3 / 5 (2) |
0
Relationship of medical interventions in childhood and prevalence of later intellectual disability
A study by Jeffrey P. Brosco, M.D., Ph.D., of the University of Miami, Florida, and colleagues examines the relationship between medical interventions in early childhood and the increasing prevalence of later intellectual ...
Pediatrics
Apr 29, 2013 |
not rated yet |
0
