New research led by the Murdoch Children's Research Institute (MCRI), has combined gene editing technology with stem cell kidney regeneration to correct a patient's gene mutation.
May 4, 2018
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A Texas A&M AgriLife Research team has good news for patients with copper-deficiency disorders, especially young children diagnosed with Menkes disease.
May 8, 2020
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Researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) have led a preclinical study demonstrating that the drug palovarotene suppresses the formation of bony tumors (osteochondromas) in models of multiple ...
Nov 20, 2017
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Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) is a fatal genetic disease for which there is unfortunately no cure. Now, scientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) and Puerta ...
Sep 5, 2019
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Based on the largest resource of its kind, members of the Exome Aggregation Consortium (ExAC) led by scientists at the Broad Institute of MIT and Harvard report scientific findings from data on the exome sequences (protein-coding ...
Aug 18, 2016
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(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
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The first drug was approved Friday for a rare genetic disorder that stunts growth and causes rapid aging in children, after studies showed it can extend their lives.
Nov 21, 2020
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Families living with four extremely rare neurodegenerative diseases have finally learned the cause of their illnesses, thanks to a researcher's hunch and decades of improvements in DNA sequencing technology.
Jul 22, 2019
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Early childhood seizures result from a rare disease that begin in the first months of life. Researchers at University of Utah Health have developed high-tech tools to uncover the genetic cause of the most difficult to diagnose ...
Aug 13, 2018
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A toddler is thriving after doctors in the U.S. and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters.
Nov 12, 2022
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