Zellweger syndrome is a rare disease which at its mildest form can cause developmental delays in childhood and vision and hearing loss in adulthood. At its most severe, it can mean weak muscle tone, feeding and respiratory ...
Sep 30, 2020
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A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome. The overexpression of a specific gene and ...
Sep 28, 2020
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People with pale colored melanomas are more likely to have a gene mutation associated with albinism, University of Queensland research has found.
Sep 23, 2020
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Geneticists could identify the causes of disorders that currently go undiagnosed if standard practices for collecting individual genetic information were expanded to capture more variants that researchers can now decipher, ...
Sep 10, 2020
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The drug miglustat appears to stabilize the swallowing problems that occur in children and adolescents with Niemann-Pick type C1 (NPC1), a rare and ultimately fatal neurological disease, according to a study by researchers ...
Sep 10, 2020
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New findings from Children's Hospital of Philadelphia (CHOP) show that some patients with a rare and aggressive form of leukodystrophy may benefit from receiving treatment with a class of targeted therapy drugs that could ...
Sep 2, 2020
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Australian researchers have discovered that removing copper from the blood can destroy some of the deadliest cancers that are resistant to immunotherapy using models of the disease.
Aug 19, 2020
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Connie Culp, the first US recipient of a partial face transplant, has died at age 57, according to Ohio's Cleveland Clinic, where she underwent the delicate operation nearly 12 years ago.
Aug 2, 2020
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Scientists at the Stowers Institute for Medical Research have shown that a dysfunctional placenta can play a previously unrecognized role during the earliest stages of development in mouse models of Cornelia de Lange syndrome. ...
Jun 16, 2020
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There is an extremely high probability that individuals with 22q11.2 micro deletion syndrome—a rare genetic disorder—will develop schizophrenia together with one of its most common symptoms, auditory hallucinations. Scientists ...
May 26, 2020
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