Genetics
Cognition in rare hormonal disorder
PHP1A (pseudohypoparathyroidism 1A) is a rare genetic disorder that causes short adult stature, multi-hormone resistance, early-onset obesity and cognitive impairment.
Feb 14, 2018
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Page 12 - News tagged with rare genetic disorders
Genetics
Gene therapy for rare form of blindness wins US approval
U.S. health officials on Tuesday approved the nation's first gene therapy for an inherited disease, a treatment that improves the sight of patients with a rare form of blindness. It marks another major advance for the emerging ...
Dec 19, 2017
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Medical research
The story of a new skin
Decades of scientific research into areas including plant genetics and data science helped doctors successfully carry out an experimental therapy to create a new skin for a seven-year-old boy suffering from a rare genetic ...
Dec 14, 2017
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Neuroscience
New gene therapy targets brain disorders
UNSW researchers have tailored gene therapy for a rare genetic disorder called Canavan disease, and say it could eventually be adapted to treat other inherited disorders affecting the brain.
Nov 9, 2017
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Genetics
New biomarker found for group of rare metabolic diseases
A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of ...
Aug 7, 2017
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Pediatrics
Care for chronically ill children may suffer when parents and doctors are at odds
Holly remembers the day doctors diagnosed her son with cerebral palsy and told her he would need life-long care.
Jul 13, 2017
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Oncology & Cancer
Scientists uncover potential mechanism for HPV-induced skin cancer
Scientists have identified a molecular pathway by which some types of human papilloma virus (HPV) might increase the risk of skin cancer, particularly in people with the rare genetic disorder epidermodysplasia verruciformis ...
Jun 22, 2017
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Genetics
New test for childhood genetic disorders 'transformational'
The gruelling way doctors are often forced to diagnose a group of rare genetic disorders in children could be transformed by a new test developed by The University of Manchester and Saint Mary's Hospital.
May 15, 2017
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Genetics
Using RNA sequencing to diagnose patients with rare muscle conditions
(Medical Xpress)—An international team of researchers has developed a way to use RNA sequencing to help in diagnosing patients with rare genetic muscle conditions. In their paper published in the journal Science Translational ...
Genetics
Researchers reveal developmental mechanisms behind rare bone marrow disorder
Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells. Researchers from Charité - Universitätsmedizin Berlin have found that a ...
Apr 12, 2017
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