This article has been revised to reflect the following correction: Correction: February 20, 2013 An article on Tuesday about the use of DNA sequencing to identify rare genetic diseases misstated the name of a medicine taken by two teenagers who have a rare gene mutation.
“Imagine the people who drive across the whole country looking for that one neurologist who can help, or scrubbing the whole house with Lysol because they think it might be an allergy,” said Richard A. Gibbs, the director of Baylor College of Medicine’s gene sequencing program.
a neurochemical that transmits nerve impulses across a synapse
They discovered that Alexis and Noah had an extremely rare mutation in a gene, SPR, that knocked out synthesis of both dopamine and another neurotransmitter, serotonin.
a neurotransmitter involved in e.g. sleep and depression and memory
They discovered that Alexis and Noah had an extremely rare mutation in a gene, SPR, that knocked out synthesis of both dopamine and another neurotransmitter, serotonin.
“Imagine the people who drive across the whole country looking for that one neurologist who can help, or scrubbing the whole house with Lysol because they think it might be an allergy,” said Richard A. Gibbs, the director of Baylor College of Medicine’s gene sequencing program.
of or relating to or used in or practicing neurology
Desperate to find out what is wrong with Eli, now 8, the Sukins, of The Woodlands, Tex., have become pioneers in a new kind of testing that is proving particularly helpful in diagnosing mysterious neurological illnesses in children.
The answer came in August 2010, when Dr. Gibbs, the head of Baylor’s gene sequencing program, and Dr. James R. Lupski, also at Baylor, agreed to sequence the twins’ entire genome as part of a research program.