Jim Lupski wins Bloemendal Medal


The Hans Bloemendal Medal for 2012 is awarded to Professor James Lupski, in recognition of his groundbreaking studies in biomedical sciences. He is an outstanding scientist, who has dedicated his research career to characterizing genomic disorders, including their molecular mechanisms.

Prof. Lupski's inspirational work led to the concept of 'genomic disorders'. He established the critical role of copy number variation (CNV) and gene dosage in conveying human disease phenotypes. Prof. Lupski and colleagues were among the first to demonstrate that whole-genome sequencing technology can allow researchers to isolate relevant disease information from an individual's genome. They sequenced his own genome and found the mutations that cause Charcot-Marie-Tooth (CMT) disease in him. These findings hold great promise for the future of what's become known as "personalized medicine".

Prof. Lupski is a world leader in genetics research. For his work on human genomics and the elucidation of genomic disorders Dr. Lupski was awarded a Doctor of Science degreehonoris causain 2011 from the Watson School of Biological Science at the Cold Spring Harbor Laboratory. He has published more than 500 papers, which have been cited more than 25,000 times (current H-index 83). He is a co-inventor on more than 20 patents and has delivered over 400 invited lectures in 32 countries. In short, his enthusiasm for science and intelligent approach to research is remarkable. We hope that Prof. Lupski feels honored by adding the Hans Bloemendal Medal from the Nijmegen Centre for Molecular Life Sciences (NCMLS) to his impressive list of achievements and awards.

Short biography:
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 M.D./Ph.D. 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.

Personal statement & Lab research:
The Lupski lab has investigated the molecular bases of Mendelian diseases for 25 years.  From studies of Charcot-Marie-Tooth (CMT) neuropathy we elucidated copy number variation (CNV) and gene dosage as a cause of disease, determined the first mechanism for CNV formation as non allelic homologous recombination (NAHR), demonstrated reciprocal duplication/deletion events mediated by NAHR, and provided experimental evidence for recombination hotspots in the human genome.  In conjunction with our work on the Smith-Magenis del17p11.2 microdeletion syndrome we formulated the concept of genomic disorders:  conditions caused by pathogenic CNV in the human genome that are incited by genome architecture which results in genome instability.  We also elucidated the first DNA replication mechanism for complex human genomic rearrangements.  Our studies of other neurologic and ophthalmic Mendelian diseases elucidated: (i) triallelic inheritance, (ii) a role for nonsense-mediated decay in allelic affinity, and (iii) recessive carrier states in susceptibility to complex traits. 

The laboratory's genomic studies initially in bacteria elucidated the ubiquitous nature of repetitive sequences in bacterial genomes that led to a genomic DNA fingerprinting technology used worldwide for microbial typing and commercialized by bioMérieux as DiversiLab.

Pioneering personal human genome sequence and CNV studies in collaboration with Richard Gibbs provided the first next generation whole genome sequence (WGS); that of J.D. Watson that revealed Alu dimorphism as the most abundant CNV and documented the tremendous variation, both simple nucleotide variation (SNV) and CNV, in the genome of one individual.  With the Gibbs' lab we also provided the first example of WGS to identify the cause of a Mendelian Disease - the sequence of my own genome and the end of a 25 year quest to find the cause of my CMT.   Furthermore, we together also reported the first WGS that directed optimized patient management which resulted in clinical improvement. These latter WGS investigations also provided evidence for heterozygous carrier states having susceptibility to complex traits.  Extensive genomic studies in subjects manifesting clinical phenotypes have implicated rare variants and new mutations in human disease and delineated the concept of clan genomics.

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