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Jeffrey R. Gruen, MD |
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Associate Professor
Department of Pediatrics, Genetics, and Investigative Medicine |
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Our primary research interest is in finding and characterizing genes that cause reading
disability, commonly known as dyslexia. Dyslexia 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 dyslexia we
identified a major contributing gene, called doublecortin-domain-containing-2 (DCDC2)
(Meng et al, PNAS 102: 17053-17058, 2005). We found that a deletion in a putative
regulatory sequence in DCDC2 is present in ~20% of dyslexics. We have now found 20
variations (alleles) of this regulatory (enhancer) sequence and our present studies
are focused on identifying which alleles are the most deleterious and which may be
protective, and how these variations functionally alter brain development using
immunocytochemistry, RNAi, a mouse knockout model, and other molecular approaches
in animals. We are also studying how variations of DCDC2 and other dyslexia genes
alter brain activation patterns in human subjects using functional magnetic resonance
imaging (fMRI), and brain cytoarchitecture using voxel-based morphometry analyses of
gray matter and fractional anisotropy.
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We are also studying the genetic contributions to common disorders of prematurely
born infants. Using heritability analyses of identical and non-identical twins
born less than 32 weeks gestational age (before the 7th month of pregnancy), we
found that genetic factors account for at least 45% of the variance in liability
for a common form of chronic lung disease called bronchopulmondary dysplasia
(Bhandari et al, Pediatrics, 117(6):1901-1906, 2006), 70% of the variance for the
most common form of blindness called retinopathy of prematurity (Bizzarro et al,
Pediatrics, 118(5):1858-1863, 2006), and 70% of the variance for the most common
congenital heart disease called patent ductus arteriosus (PDA).
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