Christian P. Schaaf, M.D., Ph.D.
Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
How genes influence behavior. Novel therapeutic strategies for neurodevelopmental and neuropsychiatric disorders. Rett syndrome. CHRNA7 associated disorders.
Dr. Schaaf studies the role of the cholinergic nervous system in mouse models of Rett syndrome. Focusing on one specific group of neurons allows him to dissect and better understand the neurological problems of Rett syndrome, and devise novel therapeutic strategies for this disorder.
In a second project, Dr. Schaaf studies individuals with copy number variants of the CHRNA7 gene, who are affected with intellectual disability, autism spectrum disorders, and other neuropsychiatric problems. His research aims at understanding the effects of CHRNA7 copy number on how the human brain processes sensory stimuli, and whether those can be treated with targeted pharmacological intervention. This study has been awarded the 2011 Doris Duke Charitable Foundation Clinical Scientist Development Award.
Third, Dr. Schaaf uses novel diagnostic tests, such as chromosome microarray analysis and whole genome sequencing approaches to identify the causes of developmental delay, intellectual disability, autism, and other neuropsychiatric disorders. Candidate genes are then chosen and studied in animal models, aiming at understanding the gene’s function, and potential for therapeutic intervention.
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR