News tagged with rare genetic disorders
(Medical Xpress)—UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease-in-a-dish modeling of a rare genetic ...
Diseases, Conditions, Syndromes May 10, 2013 | 5 / 5 (2) | 0 |
A collaborative team of physician-scientists at the Medical College of Wisconsin (MCW) and Children's Hospital of Wisconsin Research Institute has developed a new evidence-based, clinical algorithm to help physicians treat ...
Diseases, Conditions, Syndromes Apr 26, 2013 | 4 / 5 (1) | 0
Four years ago, Janelly Martinez-Amador was confined to a bed, unable to move even an arm or lift her head. At age 3, the fragile toddler had the gross motor skills of a newborn and a ventilator kept her ...
Diseases, Conditions, Syndromes Apr 24, 2013 | not rated yet | 0
Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation ...
Neuroscience Apr 15, 2013 | not rated yet | 0
(Medical Xpress)—Researchers have found that missteps in a basic cellular process, RNA splicing, is the culprit behind a class of rare neurological disorders manifested by intellectual disability and stunted development.
Genetics Mar 29, 2013 | 4.5 / 5 (2) | 0 |
Experts from the UNC School of Medicine and the UNC Gillings School of Global Public Health propose that screening healthy adults for preventable diseases such as colorectal cancer, breast cancer, and several catastrophic ...
Genetics Mar 06, 2013 | not rated yet | 0 |
The European Union on Thursday pledged 144 million euros of fresh funding for research on rare diseases that currently affect some 30 million Europeans, the majority of them children.
Genetics Feb 28, 2013 | not rated yet | 0
New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from ...
Cancer Nov 27, 2012 | not rated yet | 0 |
An Australian study reveals that people with the rare genetic disorder known as Prader-Willi Syndrome may have an impaired autonomic nervous system. This discovery opens up a new way of looking at the insatiable appetite ...
Diseases, Conditions, Syndromes Nov 15, 2012 | 5 / 5 (2) | 0
Scientists studying a rare genetic disorder have identified a molecular pathway that may play a role in schizophrenia, according to new research in the October 10 issue of The Journal of Neuroscience. The findings may on ...
Genetics Oct 09, 2012 | 4.5 / 5 (2) | 1 |
Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
Genetics Oct 09, 2012 | not rated yet | 0 |
(Medical Xpress)—An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to a study.
Autism spectrum disorders Sep 24, 2012 | 3 / 5 (1) | 0 |
Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...
Genetics Aug 26, 2012 | not rated yet | 0 |
Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Autism spectrum disorders Jul 12, 2012 | 4.7 / 5 (3) | 0 |
Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.
Pediatrics Jun 21, 2012 | not rated yet | 0 |