Jeffrey Robert Gruen MD
Professor of Pediatrics (Neonatology) and of Genetics
Complex inherited traits including bladder exstrophy; Genetic susceptibility to newborn disorders; Genetics of reading disability (dyslexia)
Our primary research interest is in finding and characterizing genes that cause reading disability, commonly known as dyslexia. Reading disability is present in 10 to 20% of school children and is the most common cause of learning disability. It is also mostly genetic in origin with genetic factors accounting for 40 to 60% of the poor performance in reading tests. Through genetic studies of families and children with reading disability we identified a major contributor, called doublecortin-domain- containing-2 (DCDC2) We found that a deletion in a putative regulatory sequence in DCDC2 is present in ~20% of dyslexics. We have found 14 variations (alleles) of this regulatory (enhancer) sequence and are identifying which alleles are the most deleterious, which may be protective, and how these variations functionally alter brain development. We are also assessing dyslexia using various imaging modalities in children - including functional magnetic resonance imaging (fMRI) and resting state connectivity – as an endophenotype for conditioning our genetic studies (“imaging-genetics”). Our preliminary data suggest that imaging is a sensitive phenotype for dyslexia and will identify new functional-genetic units for reading not previously appreciated.