Children’s Hospital Colorado

Neurogenetic Multidisciplinary Clinic

Anschutz Medical Campus

at Children’s Hospital of Colorado

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of birth defects including congenital diaphragmatic hernia, congenital heart disease, and esophageal atresia, autism, neurodevelopmental disorders, pulmonary hypertension, cardiomyopathy, obesity, diabetes, and breast cancer. She leads the Precision Medicine Resource in the Irving Institute at Columbia University. Read more…

Clinic Visit Request/Inquiry Form

Watch Informational Session

Dr. Scott Demarest and Dr. Margarita Saenz (clinic co-directors), along with Tristen Dinkel (nurse coordinator) to learn what to expect from the Neurogenetics Multidisciplinary Clinic at Children’s Hospital Colorado.

Program Providers

Clinic

Families begin the day in Neurology clinic for cognitive assessments with our Neuropsychologist. Next, they see providers in the Special Care Clinic – a pediatrician with expertise in complex and chronic conditions and a pediatric-focused registered dietician. Finally, they are seen in our multi-disciplinary clinic space, with assessments by a Neurologist, Genetics, doctor of Rehabilitative medicine, and physical, occupational, and speech therapists. The nurse coordinator plans out the clinic day in advance and communicates with family to make sure the schedule for the day is clear and feasible for the child.
Families can prepare for what is a long day at the hospital by: bringing snacks and/or meals and feeding supplies, communication devices, orthotics and anything needed to get child comfortably through the day. Our goal is to help your child leave the day with a plan of care that streamlines and optimizes their medical and therapy cares. We recognize that this will be a long day, but we hope to bring together an expert team for your child’s rare condition, and efficiently offer you the best advice to improve your child’s quality of life. We anticipate most patients being seen once a year in multi-disciplinary clinic.

How to schedule your visit?

Please contact us with your child’s name, birthdate, your preferred phone number, insurance card(s) and genetic testing results. Tristen Dinkel, Nurse Coordinator- Phone- 720-777-7453, Fax- Attn: 8P Clinic, Fax: 720-478-7103, email – BNDP@childrenscolorado.org

Meet the Team – Neurogenetic Clinic

Dr. Margarita Saenz

Co-Medical Director

Scott Demarest

Clinic-Medical Director

Kourtney Santucci

Special Care Clinic

Kristina Malik

Special Care Clinic

Andrea Miele, PhD

Neuropsychology

Kilby Mann, MD

Rehabilitation Medicine

Lauren Treat, MD

Palliative Care

Ann Reynolds, MD

Developmental Pediatrics

More Resource Information

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.