News tagged with rare genetic disorders
Stem cell researchers move toward treatment for rare genetic nerve disease
(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 |
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New approaches in treating complicated childhood polycystic kidney disease
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 |
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Therapy helps regenerate child's undeveloped bones
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 |
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Researchers untangle molecular pathology of giant axonal neuropathy
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 |
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Researchers discover that errors in RNA splicing lead to a class of neurological disorders
(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 |
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Genomic screening to detect preventable rare diseases in healthy people
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 |
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EU releases 144 mn euro for new rare disease research
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 |
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Gene that causes tumor disorder linked to increased breast cancer risk
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 |
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A new way of looking at Prader-Willi Syndrome
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 |
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Rare genetic disorder points to molecules that may play role in schizophrenia
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 |
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Scientists discover gene behind rare disorders
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 |
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Fragile X study offers new drug hope
(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 |
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Vitamin B12 deficiency: Tracking the genetic causes
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 |
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Mutations in autism susceptibility gene increase risk in boys
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 |
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Parents seen as critical stakeholders in expanding newborn screening
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 |
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