Undiagnosed Diseases Network (UDN) Awards

FY 2022 Awards

Vivek Bhalla, MD
Associate Professor, Medicine - Nephrology
Study Title: Genome Study of Overlap Syndrome to Elucidate Causes of Two Rare Diseases of Adolescence

Stuart Scott, PhD, FACMG
Professor, Pathology Clinical
Study Title: Long-Read Genome Sequencing to Increase Diagnostic Yield in Pediatric Genetic Diseases

Holly K. Tabor, PhD
Associate Professor, Primary Care and Population Health
Study Title: Putting Precision Medicine in Conversation with Disability: A Pilot Study of Parental Conceptions of Disability Experience and Identity for Parents of Pediatric Patients in the Stanford UDN

FY 2021 Awards

Natalia Gomez-Ospina, MD, PhD
Assistant Professor, Pediatrics (Medical Genetics and Stem Cell Transplantation)
Study Title: Generating a Human Cell Tool Kit for Organelle-Specific OMICs Studies

FY 2019 Awards

Gill Bejerano, PhD
Associate Professor, Developmental Biology; Computer Science; Biomedical Data Science; and Pediatrics (Genetics)
Study Title: A Next Generation Computational System for the Diagnosis of Rare Genetic Disease

Stephen Montgomery, PhD, Associate Professor, Pathology and Genetics and Maura Ruzhnikov, MD, Clinical Assistant Professor, Neurology & Neurological Sciences and Pediatrics (Medical Genetics)
Study Title: Transcriptomic Profiling to Augment the Diagnosis of Rare Genetics Disorders

Holly Tabor, PhD
Associate Professor, Medicine (Primary Care and Population Health)
Study Title: Experiences and Outcomes of Diverse Participans in the Undiagnosed Diseases Network Population: A Pilot Study