Christian P. Schaaf, M.D., Ph.D.
Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
The Joan and Stanford Alexander Endowed Chair for Neuropsychiatric Genetics
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.
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR
Corrigendum: Quantitative real-time imaging of glutathione.
Jiang X, Chen J, Bajić A, Zhang C, Song X, Carroll SL, Cai ZL, Tang M, Xue M, Cheng N, Schaaf CP, Li F, MacKenzie KR, Ferreon ACM, Xia F, Wang MC, Maletić-Savatić M, Wang J