George Karpati

George Karpati

Obituary George Karpati Neurologist and expert on neuromuscular disorders. Born in Debrecen, Hungary, on May 17, 1934, he died of a heart attack in M...

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Obituary

George Karpati Neurologist and expert on neuromuscular disorders. Born in Debrecen, Hungary, on May 17, 1934, he died of a heart attack in Montreal, Canada, on Feb 6, 2009, aged 74 years. Patients looking for information on the late George Karpati on the website RateMDs.com would not have learned from the site’s anonymous postings about Karpati that he was a renowned neuroscientist, credited with one of the biggest breakthroughs in muscular dystrophy research. But they would have learned from one patient that Karpati’s clinical work displayed strong investigative traits: “I have a very unusual neurological disease which Dr. Karpati diagnosed with great medical skills after several other doctors could not identify it. He does not give up.” Ken Hastings, a colleague who began working with Karpati at McGill University’s Montreal Neurological Institute shortly before Karpati’s most famous achievement—a 1988 collaborative study that localised the cytoskeletal muscle protein dystrophin to the muscle fibre surface and showed a lack of dystrophin in the fibres of patients with Duchenne muscular dystrophy—offers a strikingly similar assessment of his much-missed friend. The ability to fuse clinical experience with brilliant histochemical analysis was Karpati’s stock-in-trade, says Hastings: “He had extremely broad interests but especially in clinical issues, where he was famous for knowing everything. He reacted to all new information with unbelievable enthusiasm. But he always thought in terms of the patient first, then the disease, then 1246

the molecule. When he was looking at cells, the patient was informing what he saw. The patients delivered insights. He noticed all sorts of things.” Although Karpati—who emigrated to Canada after surviving the holocaust and then escaping the postwar Hungarian regime—made his greatest scientific contribution in the localisation of dystrophin and the elaboration of the leading pathogenic mechanism for Duchenne muscular dystrophy, his determination to follow up this breakthrough magnified his contribution to international medical science through the training of a new generation of scientists probing gene-based therapeutic techniques. “As Director of the Neuromuscular Research Group at the Montreal Neurological Institute”, explains Phillip Gold, a colleague at McGill University’s school of medicine, “Karpati led a group usually composed of some six multidisciplinary senior scientists and some 50–60 others, including technicians and secretaries and, most importantly, students and fellows, many of whom have gone on to prominent posts in other leading institutions.” Although he made seminal contributions in the area of Duchenne muscular dystrophy, says Gold, Karpati’s research “was not confined to this condition, but covered a broad range of basic and clinical studies on other neuromuscular and neurometabolic disorders for which both his research and clinical expertise were so often sought”. Karpati also focused on gene therapy approaches to cell repair. “As soon as he knew the gene was in hand, he was up and running”, says Hastings. “The dystrophin gene is the biggest gene in the genome, which presented special problems, but because the protein seemed to have a structural role in the cell, he was convinced that gene therapy has to be the way to go.” After more than 20 years of effort to make this approach work, the technical difficulties are extreme and the repair of defective genes remains an elusive goal. But Karpati never made plans to retire. At the time of his death, he was still hard at work pursuing two main strategies of molecular therapy for Duchenne muscular dystrophy in animal models. Was he frustrated by the long struggle to overcome the great gene-delivery and immunological challenges that impede worldwide progress in gene therapy? “He never said anything direct about any frustration”, says Hastings. “But almost everyone is disappointed in global gene therapy progress. The technical difficulties have proven extreme.” But Karpati’s inspiring enthusiasm for the prospects of gene therapy, and for all new developments in biomedical research, was never dimmed, says Hastings. “Great things take long to achieve”, Karpati told financial contributors to muscular dystrophy research. “The impossible takes a little longer.” Karpati is survived by his wife of 42 years, Shira, and his sons, Adam and Joshua.

Paul Webster [email protected]

www.thelancet.com Vol 373 April 11, 2009