A Letter from Dr. Bird: 50 Years of the UW Neurogenetics and Huntington’s Disease Clinic

In 1957 Dr Arno Motulsky, Professor of Medicine at the University of Washington’s new Medical School, decided to initiate a clinic devoted to genetic diseases. As a hematologist he was especially interested in hereditary diseases of blood and hemoglobin, but had a prescient vision that genetic factors likely played a role in all medical diseases. With this idea in mind he created the nation’s first Division of Medical Genetics (along with a similar effort at Johns Hopkins). The clinic evaluated and diagnosed any person or family who was thought to have a genetic disease.

In 1973, as a Neurology resident at the UW, I began to visit the Medical Genetics Clinic to offer diagnostic help in evaluating the families with hereditary neurologic diseases. I was amazed to discover that these neurologic disorders were the most common conditions seen in this clinic and that they were incredibly fascinating. The following year (1974) I became a Fellow in Medical Genetics with Dr Motulsky and decided to devote my career to Clinical Neurogenetics.

So in 1974 we began to group the neurological patients together in a weekly clinic and they were seen by me and a more senior Medical Genetics attending physician (such as Motulsky and his colleagues). This was the beginning of the UW Neurogenetics Clinic. I was particularly encouraged in forming this clinic by Dr Motulsky and Dr Judith Hall, a pediatric medical geneticist. The most common disease seen in the clinic was Huntington’s Disease (HD), probably because it was a devastating condition that was not well understood by general physicians in the community and because it was tricky to diagnose based solely on the observation of intermittent involuntary movements. We were ably assisted in these evaluations by Amelia Schultz, a social worker originally trained as an anthropologist at Columbia University, who had developed a special interest in HD.

However, HD was only one of numerous intriguing Neurogenetic diseases seen in the clinic. Other conditions included cerebellar ataxias, Charcot Marie Tooth neuropathy, muscular dystrophies, ALS, epilepsies, mental retardation (as it was called then), neurofibromatosis, Parkinson’s and a variety of dementias. There were no genetic tests, so diagnosis was based almost entirely on family history and physical diagnosis. The clinic became a rich source of material that led to the discovery of numerous genes causing Neurogenetics diseases such as Hereditary Ataxias, Charcot Marie Tooth Neuropathies, Alzheimer’s disease, Frontotemporal Dementia and genetic movement disorders. Important clinical collaborators who attended the clinic included Phillip Chance, Wendy Raskind, Debbie Tsuang, Al LaSpada and Steve Tapscott. International visitors included Anita Harding from Britain, Elsdon Storey from Australia, Mario Cornero from Peru, Ephrat Levy-Lahad from Israel, and Richard Roxborough, Oksana Suchowersky from Canada, and Kiri Brickle from New Zealand. Francis Collins visited during his early days at North Carolina. Yearly satellite clinics were held in Spokane and Yakima.

Today the UW Neurogenetics Clinic continues to see hundreds of patients and families with hereditary diseases of the nervous system. There are three neurologists (Suman Jayadev, Marie Davis and Anny Lin), a genetics counselor (Mikael Stovarsky), a nurse (Brenda Vicars) and a social worker ( Phaleen Hanson). The clinic includes the HDSA Huntington’s Disease Center of Excellence and a Ataxia Center of Excellence. After all these years, HD remains the most commonly seen disease. Modern genetic testing is heavily used, diagnosis is much more accurate and dozens of “genetic subtypes” of the original disease categories are frequently identified. Neurogenetics continues to be an important player at the forefront of modern medicine.

Thomas D. Bird, MD
Professor (Emeritus), Neurology and Medical Genetics

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