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National Institutes of Health: Partners in the Fight

With histiocytic disorders being rare, awareness to not only the medical community but also the government level of drug development, research, and health is important for the Histiocytosis Association team. That drives us to continue to champion awareness for histiocytosis at these levels. Research into histiocytosis receives little to no federal funding. Therefore, awareness around how important various changes are to rare disease patients and families truly can have a major impact over time. For example, support from state and national individuals and entities can help to enact changes across policies, processes for drug development, criteria for clinical trials, barriers for insurance coverage, telehealth, and other similar needs of our histio community. 

National Cancer Institute Webinar

National Cancer Institute, part of the National Institutes of Health.

It was an honor to receive an invitation to speak at one of the offices within the National Institutes of Health (NIH), the National Cancer Institute (NCI) recently. Being offered a seat on that stage was thrilling and important. We knew the audience listening in had the potential to be broad and could include some key stakeholders (future change agents!).

Dr. Eli Diamond was the key presenter at the talk, providing an in-depth look at some of his recent work surrounding the burdens facing caregivers as well as the unseen challenges of rare diseases including pain and fatigue. I provided my perspective as both a former patient, and now an advocate for the histio community. I did my best to incorporate challenges and concerns facing all of you, setting the stage for Dr. Diamond’s work and highlighting the importance of research such as this. 

We are proud to see Dr. Diamond’s work recognized through articles published by the NIH, such as “Single-agent dabrafenib for BRAFV600E-mutated histiocytosis” and “Neurologic and oncologic features of Erdheim-Chester disease: a 30-patient series” 

Another way physicians both within the Histiocyte Society, and beyond, can receive support from and raise awareness within the NIH include applications for research funding, such as what is called an R21 Grant. R21 grants were created to encourage further exploration by supporting early and conceptual stages of research projects. Each year, physicians apply to supplement or launch their research studies. Often, this is in combination with applications for research funding from the Histiocytosis Association. Research takes a lot of time, resources, and capital, so every little bit counts.

NCATS and GARD Educating on Rare Disease

National Center for Advancing Translational Sciences and the Genetic and Rare Diseases Information Center.

The NIH has a history of supporting rare disease, and has continued to expand the impact they are making. The NIH currently has GARD, the Genetic and Rare Diseases information center.  Through GARD, rare disease information is hosted and updated by the thousand, they review research databases for new information on rare diseases and even have guidance and actionable health information for patients and caregivers.

Additionally, since 2011, their National Center for Advancing Translational Sciences (NCATS) has sponsored Rare Disease Day events. Last month they held a six-and-a-half-hour live stream for Rare Disease Day. They exhibited rare disease research posters, spoke to the rare disease congressional caucus, highlighted rare patient stories, and so much more

Seeing organizations at the national level, such as the NIH, participate in learning about rare diseases, advocating for change to policy and process to help rare disease therapies, and helping to raise awareness for rare disease is very encouraging. Although there are over 7,000 rare diseases, this type of support can offer change for us all, including the histio community. While we often work more closely on the patient-family-physician level, opportunities to work alongside the NIH and other similar organizations/programs is another critical way we support our mission and vision. We look forward to partnering more with the NIH in the future.