Hereditary Motor and Sensory Neuropathies

TY - CHAP

T1 - Hereditary Motor and Sensory Neuropathies

AU - Wiszniewski, Wojciech

AU - Szigeti, Kinga

AU - Lupski, James R.

N1 - Funding Information: CMT Mutation Database: http://molgen-www.uia.ac.be/CMTMutations/ . GeneClinics: http://www.geneclinics.org . GeneTests http://www.ncbi.nlm.nih.gov/sites/GeneTests/ . CMT Association, 2700 Chestnut Street, Chester, PA 19013-4867, 610-499-9264 or 610-499-9265 1-800-606-CMTA (2682). Fax 610-499-9247, http://www.charcot-marie-tooth.org . CMT International:1 Springbank Dr. St. Catharines, Ontario, Canada L2S 2K1, (905) 687-3630 Fax (905) 687-8753 anytime http://www.cmtint.org . Biographies Wojciech Wiszniewski is Assistant Professor at the Department of Molecular and Human Genetics. He received his MD degree from Medical University of Warsaw and PhD from National Research Institute of Mother and Child in Warsaw, Poland. Dr Wiszniewski completed residency training in medical genetics in 2011 at Baylor College of Medicine, Houston, TX. He has studied the mechanisms of Charcot–Marie–Tooth (CMT) neuropathies in Dr Lupski’s laboratory. Kinga Szigeti is Assistant Professor of Neurology. Dr Szigeti received her MD at the University of Pecs, Hungary in 1994. In 1997 she moved to the United States and completed a postdoctoral fellowship at Harvard University. She completed her clinical training in neurology (1998–2002) at the University at Buffalo and medical genetics (2002–2004) at Baylor College of Medicine. She studied Charcot–Marie–Tooth disease in Dr Jim Lupski’s lab. She was instrumental in developing evidence-based guidelines for genetic testing in CMT and related peripheral neuropathies. She is a neurogeneticist and neurologist with special interest in peripheral neuropathies and Alzheimer’s disease. He has coauthored 28 scientific publications and is a coinventor on two patents. Jim Lupski is Cullen Professor and Vice Chair of Molecular and Human Genetics. Dr Lupski received his initial scientific training at the Cold Spring Harbor Laboratory as an Undergraduate Research Participant (URP) and at New York University completing the MD/PhD program in 1985. In 1986 he moved to Houston, Texas for clinical training in pediatrics (1986–1989) and medical genetics (1989–1992) and then established his own laboratory at Baylor College of Medicine where he remains, and as of 1995, as the Cullen Professor of Molecular and Human Genetics. Through studies of Charcot–Marie–Tooth peripheral neuropathy, a common autosomal dominant trait due to a submicroscopic 1.5-Mb duplication, and Smith–Magenis syndrome, a contiguous gene deletion syndrome, his laboratory has delineated the concept of “genomic disorders” and established the critical role of copy-number variation (CNV) and gene dosage in conveying human disease phenotypes. An increasing number of human diseases are recognized to result from recurrent DNA rearrangements (recent examples include obesity and both autism and schizophrenia), involving unstable genomic regions and have thus been classified as genomic disorders. Dr Lupski’s laboratory has also used chromosome engineering to develop mouse models for genomic disorders. Recently, the laboratory’s CMT studies in collaborations with Richard Gibbs and the Baylor Human Genome Sequencing Center resulted in the first personal genome sequence to identify a “disease gene” by whole genome sequencing (WGS) and demonstrated the utility of WGS for optimizing patient management. These latter investigations further elucidated the potential role of rare variants in complex traits such as carpal tunnel syndrome and fibromyalgia. For his work on human genomics and the elucidation of genomic disorders, Dr Lupski was awarded a Doctor of Science degree honoris causa in 2011 from the Watson School of Biological Science at the Cold Spring Harbor Laboratory. He has coauthored over 500 scientific publications, is a coinventor on more than 20 patents, and has delivered over 400 invited lectures in 32 countries.

PY - 2013

Y1 - 2013

UR - http://www.scopus.com/inward/record.url?scp=84882808628&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84882808628&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-383834-6.00135-X

DO - 10.1016/B978-0-12-383834-6.00135-X

M3 - Chapter

AN - SCOPUS:84882808628

SN - 9780123838346

SP - 1

EP - 24

BT - Emery and Rimoin's Principles and Practice of Medical Genetics

PB - Elsevier Ltd

ER -