Amarilis Sanchez-Valle, M.D.
Dr. Sanchez-Valle joined the USF faculty as Assistant Professor upon completion of her fellowship training in Clinical Genetics in 2010. She grew up in San Juan, Puerto Rico and graduated from the University of Puerto Rico, School of Medicine. After medical school she completed her Pediatrics residency training at the University of Texas, Houston, where she received the Golden Key Humanism and Teaching Award in 2007. She completed her fellowship training at Baylor College of Medicine in Houston, Texas.
Dr. Sanchez-Valle is the Director of the Metabolic Clinic and provides metabolic genetics services to patients with inborn errors of metabolism and suspected metabolic disorders. She also provides clinical genetics services to pediatric, prenatal and adult patients in need of genetic diagnosis and/or counseling. She is active in educating medical professionals, medical students and the community about metabolic and clinical genetics.
Education & Training
| B.S. | University of Puerto Rico; Biology, 2001 |
| M.D. | University of Puerto Rico School of Medicine, 2005 |
| Pediatric Residency | University of Texas, Houston, 2008 |
| Clinical Genetics Fellowship | Baylor College of Medicine, 2010 |
Board Certifications
- American Board of Pediatrics
- American Board of Medical Genetics
Scholarly Activity
Dr. Sanchez-Valle is interested in inborn errors of metabolism and developing effective therapies for metabolic conditions. She is the principal investigator of the following clinical research projects:
- PKU-ASCEND: A Double-Blind, Placebo-Controlled, Randomized Study to Evaluate the Safety and Therapeutic Effects of Sapropterin Dihydrocholoride on Neuropsychiatric Symptoms in Subjects with Phenylkenuria
- PDUDOCS: PKU demographics, outcomes and safety registry
Selected Publications
Sanchez-Valle A, Wang, X, Potocki L, Xia Z, Kang AH, Carlin ME, et al. HERV mediated genomic rearrangement of EYA1 in an individaul with branchio-oto-renal syndrome. American Journal of Medical Genetics Part A. 2010 152A(11):2854-60.
Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, et al. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genetics 2010 86:462-70.
Sanchez-Valle A, Pierpont M, Potocki L. The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski Syndrome. American Journal of Medical Genetics Part A; in press.
