Smith-Kingsmore Syndrome Foundation appreciates the advice and support of our team of doctors and researchers serving on our Medical & Scientific Advisory. Their knowledge across multiple disciplines makes them especially valuable contributors to our cause.
The purpose of the Medical & Scientific Advisory is to offer expertise on scientific developments, to provide insights on the needs of Smith-Kingsmore syndrome’s population, and to ensure that Smith-Kingsmore Syndrome Foundation’s policies, research, grants, marketing, communications, and publications meet the highest standards of scientific rigor and accuracy.
Medical & Scientific Advisory
Dr. John Hogenesch
Professor of Pediatrics
Genetics Chair in Systems Biology
Interim Director of Human Genetics
Cincinnati Children’s Hospital Medical Center
Dr. Darcy Krueger
Director, Tuberous Sclerosis Clinic
Associate Professor, Clinical Pediatrics and Neurology
Associate Director, Research in Neurology
Cincinnati Children’s Hospital Medical Center
Dr. Andrew Liu
Associate Professor
Department of Physiology and Functional Genomics
University of Florida College of Medicine
Dr. Víctor Martínez-Glez
Investigador CIBERER (U753) [www.ciberer.es]
Responsable Sección de Malformaciones Vasculares
Sección de Genética Clínica
Instituto de Genética Médica y Molecular, INGEMM
IdiPaz-Hospital Universitario La Paz [www.hulp.es]
Seattle Children’s Hospital
Co-Director, Northwest Clinical Genomics Laboratory
University of Washington
Dr. Carlos Prada
Division Head, Genetics, Birth Defects and Metabolism; Valerie and George D. Kennedy Research Professorship in Human Molecular Genetics
Associate Professor of Pediatrics (Genetics, Birth Defects, and Metabolism), Northwestern University Feinberg School of Medicine
Dr. Margot Reijnders
Clinical Geneticist in Training
Post-doc Researcher
Erasmus University Medical Center, The Netherlands
Carolyn Serbinski, MS, CGC
Board-certified genetic counselor, Ann & Robert H. Lurie Children’s Hospital of Chicago
Master of Genetic Counseling, University of Michigan
Bachelor of Science in Cell and Molecular Biology, University of Cincinnati
Dr. David Smith
Assistant Professor, Co-Director, Center for Circadian Medicine, Divisions of Pediatric Otolaryngology, Pulmonary Medicine, and the Sleep Center
Cincinnati Children’s Hospital Medical Center
Department of Otolaryngology-Head and Neck Surgery
University of Cincinnati College of Medicine
Dr. Laurie Smith
First to document Smith-Kingsmore syndrome in:
Smith, L. D., Saunders, C. J., Dinwiddie, D. L., et al. Exome sequencing reveals de novo germline mutation of mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures. Genomes Exomes 2: 63-72, 2013.
Dr. Kate Tatton-Brown
Professor, Clinical Genetics and Genomic Education
Consultant Clinical Geneticist
St George’s University NHS Foundation Trust, London
