XCenter: Rare Diseases Module 1

MODULE 1: Understanding Rare Diseases – What Everyone Needs to Know

This session will help participants establish the foundational knowledge and raise awareness about rare disease including these key topics:

– Definition and scope of rare diseases (U.S. vs. global definitions)

– Epidemiology: Prevalence, patterns, and myths about rarity

– Causes and types of rare diseases (genetic, autoimmune, infectious, etc.)

– The diagnostic odyssey: Why it takes years to get a diagnosis

– Impact on patients and families: Medical, emotional, and financial burdens

– Health equity considerations and disparities in diagnosis and care

– Introduction to the rare disease ecosystem: Key stakeholders and resources

Learning Objectives:

Be able to define what rare disease is and who it affects, including rare disease disparities

Differentiate causes and types of rare diseases.

Identify common myths about rare disease.

1.0 Ethics/J.E.D.I. BCPA CE

About The Presenter:

Gioconda Alyea, F MD, IMG, MS (she/her)

Rare Disease and Health Equity Specialist

Medical Affairs, National Organization for Rare Disorders

Gioconda Alyea has been part of NORD’s Medical Affairs department since December 2022 and is involved in several different projects. She graduated as a physician specialized in medical genetics in Brazil, where she worked with patients affected by genetic and rare diseases and also taught embryology. Before joining NORD, Gioconda spent over 10 years at the Genetic and Rare Diseases Information Center (GARD), where she used her skills and knowledge to help people with rare diseases by providing them with relevant information. During her time at GARD, she also gained extensive experience with rare disease ontology, mapping out how diseases are classified and connected. She is passionate about finding better ways to support patients with rare diseases, especially those in underserved medical communities, and she is very excited to be working at NORD.