Christian P. Schaaf, MD, PhD
Department or Service
- Texas Medical Center
Phone: 832-822-4280 Appointments | 832-824-8787 Office
The Joan and Staford Alexander Endowed Chair for Neuropsychiatric Genetics
Texas Children's Hospital
Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
|Baylor College of Medicine||residency||Molecular & Human Genetics||2010|
|Baylor College of Medicine||residency||Pediatrics||2009|
|Baylor College of Medicine||internship||Internal Medicine/Pediatrics||2007|
|University of Heidelberg||medical school||Doctor of Medicine/Philosophy||2005|
I am dedicated to children with special needs, in particular those with neurodevelopmental and neuropsychiatric disorders, such as autism spectrum disorders, schizophrenia, and bipolar disorder. Children get referred to me to investigate the possible genetic causes underlying these conditions. We utilize the most advanced genetic diagnostic tests, and I make sure to have enough time for each patient and family so to provide in-depth counseling and explanation of every step that we take in the diagnostic process. As a geneticist, I am an advocate not only for the individual patient, but really for the entire family.
Neurodevelopmental disorders (autism spectrum disorder, developmental delay, intellectual disability, etc.): In clinic, I see a large number of children with neurodevelopmental disorders, and try to help the families in finding the underlying genetic causes. A particular clinical and research interest of mine are children who have undergone developmental regression, which means they have lost developmental skills and milestones that they had previously acquired. Regressive autism and childhood disintegrative disorder would fall into that category.
Chromosome Abnormalities and Autism: Small changes in the amount of chromosome material can predispose to autism and other neuropsychiatric conditions. These could be small losses of chromosome segments (deletions) or extra copies (duplications). I see many children and adults in clinic, who have had genetic testing uncovering such changes. My goal is to help them understand their implications, to provide anticipatory guidance, and to find the most up-to-date management guidelines for the respective conditions. For some specific chromosome changes, e.g. deletions and duplications of the CHRNA7gene on chromosome 15, I conduct multi-disciplinary clinical research, trying to identify novel treatment strategies.
Prader-Willi syndrome and Schaaf-Yang syndrome: We have expertise in these two related genetic disorders, and we work with experts around the country and around the world to provide the best care possible for affected individuals and their families. Schaaf-Yang syndrome is a newly described genetic disorder that is caused by mutations in the MAGEL2 gene. Affected children manifest similar features as those with Prader-Willi syndrome, especially in the newborn period. A higher prevalence of joint contractures and autism spectrum disorder is seen in children with Schaaf-Yang syndrome, when compared to those with Prader-Willi syndrome.
Optic Atrophy: Some children are born with severe vision impairment due to abnormal development of the optic nerve. We recently described a condition, caused by mutations in the NR2F1 gene, that leads to optic atrophy and developmental delay/intellectual disability. The condition has subsequently been named Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. We see patients with this condition, coming to see us from all over the country, so we can better understand the condition, and come up with strategies for health supervision of the affected children.
Outreach and Education: I am passionate about teaching and helping people understand the complexities of human genetics. This involves the affected individuals and their families, teachers, decision-makers, and other healthcare providers. We are currently developing "From Stress to Strength - A program for parents of children with special needs", which will provide parents of special needs children with techniques of coping, stress management, and healing.
Awards 2010 Texas Children's Best and Most Complete Resident or Fellow, 2011 Doris Duke Clinical Scientist Development Award, 2012 Chao Physician Scientist Award, 2013 William K. Bowes Jr. Award in Medical Genetics, 2014 Fulbright & Jaworski Faculty Excellence Award, 2016 Donald Seldin~Holly Smith Award for Pioneering Research (American Society for Clinical Investigation)
|American College of Medical Genetics||Vice Chair, Program Committee|
|American Society of Human Genetics||Member|
|German Society of Human Genetics||Member|
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