Scientific Advisory Board

“I have enjoyed being a resource for families and also for clinicians around the country, emphasizing that this is NOT a terminal disease and that our patients do well with good medical management. I truly appreciate the willingness of our families to share their experiences with me so that I can relay these experiences to other families and clinicians.” -Amy R.U.L. Calhoun, MD




Amy R.U.L. Calhoun, MD

Clinical Assistant Professor

Medical Consultant for Newborn Screening

Division of Medical Genetics

Stead Family Department of Pediatrics

University of Iowa Health Care



John Carey, MD, MPH

Professor of Pediatrics

University of Utah School of Medicine

Salt Lake City, Utah



Agatino Battaglia, MD, DPed, DNeurol

Adjunct Professor of Child Neuropsychiatry

University of Pisa

Pisa, Italy;

Adjunct Professor of Pediatrics

University of Utah School of Medicine

Salt Lake City, Utah;

Adjunct Professor of Pediatrics

University of South Dakota Sanford School of Medicine

Sioux Falls, South Dakota


Sarah South, Ph.D., FACMG

VP, Laboratory Sciences



Karen S. Ho, PhD

Principal Scientist, Translational Research


University of Utah

Department of Pediatrics

Division of Medical Genetics Adjunct Assistant Professor

Salt Lake City, UT


Rena Vanzo, M.S., L.C.G.C.

Vice President of Clinical Services


Salt Lake City, UT


Megan Martin, M.S., L.C.G.C.


Salt Lake City, UT


Mallory Sdano, M.S., L.C.G.C.



Amanda Lortz
Executive Director
4P- Support Group


Oliver W.J. Quarrell, MD, FRCP

Consultant in Clinical Genetics

Department of Clinical Genetics

Sheffield Children’s Hospital

Sheffield, UK


Peter Hammond, Ph.D.

Professor, Molecular Medicine Unit

UCL Institute of Child Health

London, UK


Gene S. Fisch, Ph.D.

Senior Biostatistician

Research Professor,

Dept. Epidemiology & Health Promotion

NYU Colleges of Dentistry & Nursing



Christine Hills, MD

Pediatric Cardiology

Children’s Heart Clinic

Minneapolis, MN


Virginia S. Nelson, MD, MPH

Professor, Department of Physical Medicine and Rehabilitation

Director, Pediatric and Adolescent Rehabilitation

Medical Director, Pediatric Neurorehabilitation Day Treatment Program

University of Michigan Health System

Ann Arbor, MI


Christine N. Kleimola, M.S.


Rebecca Richardson, RN, BSN



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