Personal account of the discovery of a new disease using next-generation sequencing. Interview by Natalie Harrison

Lyon, Gholson J. (2011) Personal account of the discovery of a new disease using next-generation sequencing. Interview by Natalie Harrison. Pharmacogenomics, 12 (11). pp. 1519-1523. ISSN 1744-8042

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URL: http://www.ncbi.nlm.nih.gov/pubmed/22044413
DOI: 10.2217/pgs.11.117

Abstract

Gholson J Lyon, MD, PhD, is a research scientist at the Center for Applied Genomics at The Children’s Hospital of Philadelphia and at the Utah Foundation for Biomedical Research (UFBR). He is also an adjunct assistant professor of Psychiatry at New York University School of Medicine. He is a board-certified child, adolescent and adult psychiatrist. He earned an MPhil in Genetics, working with Nobel laureate Martin Evans in Cambridge, UK, then received a PhD and MD through the Cornell/Rockefeller/Sloan-Kettering Tri-Institutional MD-PhD Program. He has published peer-reviewed papers in biochemistry, genetics, pharmacology and molecular biology. In addition to his research interest in neuropsychiatric illnesses, Dr Lyon is focusing on the discovery of rare previously undiscovered Mendelian diseases. Recently Dr Lyon and a team of international researchers used a new disease-variant finding tool (variant annotation, analysis and search tool [VAAST]) to identify the cause of an extremely rare X-linked genetic disorder that is lethal in infancy. The disease-causing mutation is in the NAA10 gene. Affecting only males, the mutation causes an aged appearance, facial abnormalities, developmental delay and cardiac arrhythmias, among other conditions. The team studied a family in Utah with a history of several boys with these symptoms who died in infancy, and analyzed DNA from five boys in the family. They are tentatively calling the disease Ogden syndrome, reflecting the family’s city of residence. This study is one of the first times in which next-generation sequencing has been used to help identify and confirm the genetic etiology of a previously unknown and unreported disease. Dr Lyon answers some questions below regarding this work.

Item Type: Paper
Uncontrolled Keywords: Acetyltransferases Computational Biology Genetic Diseases, Inborn Genetic Diseases, X-Linked High-Throughput Nucleotide Sequencing Humans
Subjects: bioinformatics
bioinformatics > genomics and proteomics
Investigative techniques and equipment > whole exome sequencing
Investigative techniques and equipment > assays > whole exome sequencing
CSHL Authors:
Communities: CSHL labs > Lyon lab
Depositing User: Matt Covey
Date Deposited: 10 Dec 2012 20:14
Last Modified: 10 Dec 2012 21:16
URI: http://repository.cshl.edu/id/eprint/26297

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