New Genetic Brain Disorder Discovered

Two research teams were independently running DNA sequencing on over 4,000 families affected by neurological problems, which led them both to identify and discover the same disease. This rare disorder is caused by a mutation in gene CLP1, which regulates tRNA metabolism. It is marked by reduced brain size, sensory/motor defects, seizures, and more. An identical mutation of the gene was found in seven different families, and Dr. Frank Bass, PhD, a member of one of the scientist teams, said the neurological condition is considered a new form of pontocerebellar hypoplasia (PCH).

What is remarkable about this discovery is that it would not have been found without analysis of the genes themselves; diagnosis usually happens based on clinical features and patient symptoms. At the surface level, the sampled population's symptoms would not have been enough to distinguish this disease from other similar neurological disorders. This backward identification process may have implications for defining diseases as well as future treatment of more common neurological impairments.

Article: http://www.biocompare.com/Life-Science-News/160368-Researchers-Discover-New-Genetic-Brain-Disorder-In-Humans/