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information. The existence of the GARD website is in response to the Rare Diseases Act of 2002. The Act
requires “…the establishment of a centralized clearinghouse for rare and genetic disease information that
will provide understandable information about these diseases to the public, medical professionals, patients
and families”. The public can also submit inquiries to GARD.

Patients, family members, and caregivers may contact GARD by using our online contact form or by phone.
GARD Information Specialists provide personalized responses that are free of charge, understandable, and
confidential.

Because the scientific understanding of individual rare diseases increases every day, it is challenging to stay
up to date on each disease. To address this public health challenge, GARD aims to continually provide
updated understandable information by modernizing different approaches to this website.

Over the past three years, the GARD website has been undergoing a major redevelopment effort in terms of
technology, content, and user experience. A soft launch of the new site was released in the Fall of 2021, and
NCATS has been routinely releasing new versions since then.

The goals of the redevelopment include:

• Enhancing user experience.

• Modernizing website design and architecture.

• Expanding the number of diseases covered.

• Expanding the content available for each disease.

• Assisting patients and caregivers in traversing the diagnostic odyssey.

• Providing patients and caregivers with calls to actions.

A key focus of ongoing and future development of GARD will include harmonizing data received from
ontology providers such as Orphanet, MONDO (mondo.monarchinitiative.org), and Online Mendelian
Inheritance in Man (OMIM).

In addition to supporting GARD, DRDRI staff members also participate in collaborative rare disease
informatics research on topics including rare disease epidemiology and artificial intelligence .
[6]
[7]
NCATS toolkit for patient-focused therapy development
The purpose of the NCATS Toolkit for Patient-Focused Therapy Development (NCATS Toolkit) is to
educate and empower patient advocacy groups to accelerate research toward effective treatments for their
disease by enabling their engagement as research partners. This website was created in response to requests
from rare disease patient groups for a repository of resources to help new patient groups become more
involved in the development of rare therapies. To coordinate with the larger rare disease community and
avoid duplication of efforts, NCATS Toolkit links to existing resources made by and for the patient
advocacy group community, especially umbrella rare disease patient advocacy groups. NCATS Toolkit