Rare Disease Day 2023

Thursday, March 2, 2023

Keynote speaker: Amy Gaviglio, MS, CGC

Genetic Counselor | Public Health Genetics and Rare Disease Consultant | Founder, Connetics Consulting LLC

Availability, Accessibility, and Equity: Moving from Discourse to Action in Newborn Screening and Whole Genome Sequencing

Panel Discussion

The panel includes participants who serve underrepresented communities.

• View a recording of the program
• Patient Advocacy Group Breakfast Presentation
• Introduction from Joan T.A. Gabel
• Rare Disease Day Proclamation

1. Dante Rogers, MINDS Scholar
   Clinical presentation and treatment of epilepsy in cardiofaciocutaneous syndrome: an observational cohort study
2. Jaehyeok Roh, College of Pharmacy postdoc
   N-acetylcysteine amide (NACA), a novel therapeutic option to potentially address neurological manifestations of Gaucher Disease
3. Crystal Chang, Medical School graduate student
   Development of Specific Growth Chart for Children with Fanconi Anemia

You can still view posters and virtual tables! All event content will remain available to attendees on Whova until 6/2/2023.

Children’s Tumor Foundation
Cystic Fibrosis Foundation of Minnesota*
Dup15q Alliance
Epilepsy Foundation of Minnesota
Family Voices of Minnesota*
Huntington’s Disease Society of America
Juju and Friends CLN2 Warrior Foundation
Lennox-Gastaut Syndrome (LGS) Foundation*
MORCtoo
NORD Students for Rare at the University of Minnesota*
National MPS Society
Organic Acidemia Association*
Paul & Sheila Wellstone Muscular Dystrophy Center at the University of Minnesota*
Rein in Sarcoma*
Sickle Cell Foundation of Minnesota*
United Mitochondrial Disease Foundation

*hosted exhibit table

Acadia Pharmaceuticals
Alexion
Center for Orphan Drug Research
Chiesi Global Rare Diseases
Fairview Pharmacy Services
Gillette Children's Specialty Healthcare
Horizon Therapeutics
Jazz Pharmaceutical
Neurelis
Pharming Healthcare
Stem Cell Institute
Takeda Pharmaceuticals USA