Navigating the Rare Disease Journey: Resources and Support

TLDRThis video provides information and resources to support individuals on their rare disease diagnostic journey. It covers the steps involved in finding a diagnosis and the challenges faced by rare disease patients. Key insights include the prevalence and classification of rare diseases, the need for improved research and treatments, and the importance of patient support and advocacy groups. FAQs cover finding the right healthcare professional and accessing reliable information. Timestamped summaries provide a comprehensive overview of the video content.

Key insights

Rare diseases affect a significant number of people, with over 6,000 to 10,000 different rare diseases identified.

About 80% of rare diseases have a genetic cause, emphasizing the importance of genomics research in understanding and treating these diseases.

Only about 5% of rare diseases have an approved therapy, highlighting the need for more research and treatment development.

Rare disease patients often face a lengthy and challenging diagnostic journey, seeking help from multiple specialists and patient support organizations.

The Genetics and Rare Diseases Information Center (GARD) provides reliable and personalized information for rare disease patients, caregivers, and healthcare professionals.

Q&A

How can I find the right healthcare professional for a rare disease?

—The MedlinePlus resource provides information on choosing a doctor and factors to consider when selecting a healthcare professional.

Where can I find reliable information about rare diseases?

—The Genetic and Rare Disease Information Center (GARD) offers trustworthy and accessible information for rare disease patients and caregivers.

What is the prevalence of rare diseases?

—Rare diseases collectively affect millions of people worldwide, with thousands of different rare diseases identified.

What percentage of rare diseases have a genetic cause?

—Approximately 80% of rare diseases have been linked to genetic factors.

How many rare diseases have an approved therapy?

—Only a small percentage (about 5%) of rare diseases currently have an approved therapy.

Timestamped Summary

00:00Introduction to the topic of rare diseases and the challenges faced by patients and healthcare professionals.

02:46Overview of the prevalence and classification of rare diseases, with an emphasis on the genetic causes of many rare diseases.

05:12Discussion on the limited availability of approved therapies for rare diseases and the need for more research and treatment development.

08:21Exploration of the unique diagnostic journey experienced by rare disease patients, including the involvement of multiple specialists and patient support organizations.

12:38Introduction to the role and services provided by the Genetics and Rare Diseases Information Center (GARD) in supporting rare disease patients and caregivers.