Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center

When the Baylor College of Medicine Mental Retardation Research Center (MRRC) was established in August 1988, neurology had not yet benefited from the newly emerging tools of genetics. We had no idea what genetic mutations caused even the most common forms of mental retardation and developmental delay or how we might go about treating such disorders. The Baylor MRRC created an infrastructure of core facilities to support investigators interested in identifying the causes of mental retardation and dissecting the pathogenesis of various human conditions that lead to disability. These cores have been instrumental to the remarkable discoveries that were to come as genetics and neurology intersected. The progress that has been made over the past 14 years is almost staggering. During the decade of the brain and beyond, we at Baylor have been privileged to participate in discovering the genetic basis of many disorders that hinder development or impair cognition. Shortly after the MRRC formed core services to support research here at Baylor, David Nelson and his collaborators discovered the genetic basis of Fragile X syndrome (both types: the common FRAXA, with an incidence of 1/4000, and the rarer FRAXE). The robust diagnostic test they developed is used around the world to diagnose this all-too common syndrome. Further studies on trinucleotide repeats at Baylor, launched by the Fragile X and myotonic dystrophy discoveries, paved the way for many advances in the field of human genetics, not only by allowing the identification of numerous disease genes, such as those causing Friedreich’s ataxia and several spinocerebellar ataxias, but by helping us understand the mechanisms contributing to triplet repeat instability. Indeed, the interplay between genetics and neurology has produced a string of epiphanies for both fields. It was known, for example, that sequence alterations within the coding region or regulatory elements of a gene could produce disease. It was a surprise, then, when Jim Lupski’s