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Page 4 of 14 Brooks et al. Rare Dis Orphan Drugs J 2024;3:15 https://dx.doi.org/10.20517/rdodj.2023.27

SCGE toolkit https://scge.mcw.edu/toolkit/ The Somatic Cell Genome Editing (SCGE) toolkit serves as the hub to promote the
novel strategies and technologies that are funded by NIH Common Fund's SCGE
program
TARGETTED https://www.freelancer.com/nih/ A prize competition to identify better technologies to either: target genome editors
challenge targeted-challenge to specific cells and tissues, or non-viral technologies to deliver genome editors
across the blood-brain barrier
Therapeutics for rare The TRND program supports the preclinical development of therapeutic candidates
and neglected https://ncats.nih.gov/research/ intended to treat rare or neglected disorders, with the goal of enabling an
diseases (TRND) research-activities/TRND Investigational New Drug (IND) application
Ultra-rare Gene- https://www.ninds.nih.gov/ The goals of the URGenT program are to:
based therapy current-research/research- Accelerate the advancement of discoveries into the clinic
(URGenT) network funded-ninds/translational- Provide resources and expertise not currently available to applicants
research/ultra-rare-gene-based- Deliver therapeutics to patients with ultra-rare neurological diseases
therapy-urgent-network Standardize and harmonize best practices and protocols for the development of
gene-based therapies for ultra-rare diseases

has directly supported research activities, with a greater emphasis on clinical trial designs that leverage
commonalities across different rare diseases, as well as on accelerating therapeutic platforms to treat
monogenic diseases, such as gene therapy and genome editing. In the sections below, we highlight some of
the main activities supported by DRDRI. Before outlining our current research activities, we first provide an
update on the magnitude of the current challenge posed by Rare Diseases.

The scope of the problem
Our understanding of the scope of the challenge posed by Rare Diseases, as well as research and therapeutic
strategies, has changed dramatically from the early days of ORDR. Specifically, based on the most current
genetic and informatics analyses, there are at least 10,000 rare diseases. Collectively, rare diseases impact
approximately 30 million people in the U.S. . In addition, multiple economic analyses , including work
[1,2]
[3]
from DRDRI , have estimated that, in the US, the direct medical costs of rare diseases are around
[4,5]
$400 billion/year. Note that these are only direct costs, and do not include indirect/non-medical costs,
estimated to be nearly $550 billion in the US. These numbers provide context for the ongoing DRDRI
[3]
activities highlighted below.
OUTREACH AND INFORMATION RESOURCES
Rare disease day at NIH
Since 2011, DRDRI has hosted an annual Rare Disease Day at NIH event to raise awareness about rare
diseases, people living with rare diseases, and NIH collaborations that advance translational rare diseases.
The goals of Rare Disease Day at NIH are to: (1) Demonstrate the NIH’s commitment to rare disease
research; (2) Highlight NIH-supported translational rare diseases research; (3) Facilitate dialogue among the
rare diseases community, including patients, caregivers, patient advocates, healthcare providers, researchers,
trainees, students, members of industry, and government staff; (4) Exchange the latest rare diseases research
information with stakeholders; and (5) Spotlight stories told by people living with a rare disease and their
families, and communities. This is an opportunity to work with other NIH Institutes and Centers also
interested in rare diseases research and with patient advocacy groups in developing the event agenda each
year. In addition to panel discussions and rare diseases stories, there is an opportunity for exhibits, scientific
posters, artwork, and networking. Rare Disease Day at NIH is typically a hybrid meeting, so those who
cannot travel to the NIH Main Campus in Bethesda, MD, can attend the free event virtually. The event is
also archived for anyone to rewatch at their own pace afterward.

The genetic and rare diseases information center
The Genetic and Rare Diseases (GARD) Information Center is a public health resource that aims to support
people living with a rare disease and their families with free access to reliable, easy-to-understand