Global Genes LIVE!: Accelerating Rare Disease Diagnosis with AI and ML
How are artificial intelligence (AI) and machine learning (ML) being utilized in rare disease diagnosis? Join a discussion exploring new cases using AI and ML to improve the rare disease diagnosis process. Experts Dr. Terence Sanger, M.D, Ph.D, Chris Tackaberry, Annastasiah Mhaka, Jose Abdenur, and Sebastien Lefebvre …
Waste Not, Want Not – Making the Most of Small Patient Population Data
_***Recommended for Young Investigators/Researchers**_ **Strategies for Successful Research in Small Patient Populations** * Discuss how to support and engage in research activities and develop interest for small patient population studies **Understanding Measurement Tools to Capture Patient Data in Rare and Ultr…
From Molecules To Medicine: How Are New Drugs & Therapies Developed?
This Global Genes™ Toolkit will provide you with an overview of how new drugs are developed and approved in the U.S. and also what the differences are when developing new drugs for rare diseases. This Toolkit is one in a Global Genes series on drug development,** From Molecules to Medicine**, with others in the series…
Access to Critical Therapies: Guiding Principles of Rare Disease Care and Patient Access
When the process of putting together this resource began in 2018, the challenges facing 30 million rare disease patients in the U.S. were already daunting, and they remain so. The Principles outlined here similar![][1]ly remain every bit as vital as guideposts for access to care and treatment. But are there lessons le…
Financial Literacy and Navigation In Rare Disease
# **Introduction - Financial Literacy and Navigation in Rare Disease** Approximately one in 10 people living in the United States are affected by rare diseases. According to the 2020 National Economic Burden of Rare Disease study conducted by the Everylife Foundation for Rare Disease, families living with rare diseas…
Genetic Testing: Is This My Path to a Diagnosis?
# **Introduction **![][1] More than 350 million people worldwide suffer from a rare disease. If a disease affects fewer than 200,000 people in the United States, it is considered rare. There are currently about 7,000 rare diseases identified worldwide, and approximately 80 percent are caused by genetic changes. These…
Financial Advocacy in RARE: Navigating the U.S. Health System for Young Adults
# **Introduction - Preparing for Transition** The transition to adulthood is a process and the experience of becoming an adult is different for everyone whether or not you have a rare disease. But if you have a rare disease, there are some extra challenges to think about, including navigating the healthcare system. W…
