Cherokee Nation hosts third annual Rare Disease Summit

TAHLEQUAH, Okla. - The Cherokee Nation hosted its third annual Rare Disease Summit on Wednesday, Oct. 7, at the Cherokee Nation Health Campus, bringing together specialty physicians, healthcare professionals, patients, students, families and community members to address rare diseases affecting tribal citizens.

According to the National Institutes of Health, any disease affecting fewer than 200,000 people in the United States is considered rare. More than 10,000 rare diseases are known, affecting an estimated 1 in 10 Americans, and about 95% lack an FDA-approved treatment.

Cherokee Nation Health Services, the largest tribally operated healthcare system in the United States, is committed to raising awareness, advocating for policy change and building a growing support network for patients and families affected by rare diseases.

"Our third annual Rare Disease Summit shows that this work is not a one-time effort, it is a lasting commitment to our citizens," said Cherokee Nation Principal Chief Chuck Hoskin Jr. "Earlier this year, we established a permanent Rare Disease Advisory Group so that Cherokee Nation will continue to lead on rare disease policy, care and advocacy for generations. Today, we saw that commitment in action as patients, families and experts came together to learn from one another and find support."

The no-cost summit offered separate tracks for patients and caregivers and for healthcare professionals. Continuing education credits were available for physicians, pharmacists, nurses, physician associates, social workers, psychologists and dietitians. A key focus of the event was examining the challenges that affect the recognition, diagnosis, treatment and management of rare diseases within the communities Cherokee Nation Health Services serves.

The summit opened with remarks from Chief Hoskin, Deputy Principal Chief Bryan Warner, Deputy Secretary of State Canaan Duncan, District 1 Councilor Sasha Blackfox-Qualls and Cherokee Nation Health Services Chief Medical Officer Dr. Beth Harp. Clay Smith then presented on the rare disease health journey, followed by a keynote address from Dr. Sydney Martinez titled "Bridging Stories and Statistics: A Patient-Centered Approach to Rare Disease Research."

Attendees also visited a resource fair and took part in breakout sessions covering rare disease empowerment and advocacy, food as medicine, the Oklahoma Newborn Screening Program, navigating rare disease healthcare, genetics and rare disease, pediatric hematology and oncology, nutrition for rare disease management, reversing systemic inflammatory diseases with intense lifestyle medicine, and Huntington's disease.

The day concluded with a closing speaker panel moderated by Dr. Harp and featuring Dr. Prashant Kaushik, Dr. Smaranda Galis and Dr. Martinez.

"When a family receives a rare disease diagnosis, the road ahead can feel long and uncertain," said Deputy Chief Warner. "Events like this summit put the people with answers in the same room as the families who need them. I'm grateful to every specialist, advocate and Cherokee Nation Health Services employee who made today possible, and to the families who came to share their experiences and learn alongside us."

Cherokee Nation's rare disease efforts began in 2020, when Chief Hoskin and First Lady January Hoskin announced the formation of a rare disease committee to review the needs of patients with rare diseases, help providers reach earlier diagnoses and treatment, increase awareness and recommend policy within the tribe. That work expanded in February 2024, when Chief Hoskin signed an executive order on Rare Disease Day establishing the Cherokee Nation Rare Disease Initiative Task Force, and Cherokee Nation hosted its first Rare Disease Summit later that year.

The task force's final report, released in March 2025, recommended continuing the annual summit, establishing a permanent rare disease advisory group, developing financial support for patients with rare diseases and continuing to grow rare disease case management. Building on those recommendations, Chief Hoskin signed a proclamation in February recognizing Rare Disease Month and announced a permanent Rare Disease Advisory Group to advise the Principal Chief on rare disease policy, care and advocacy.

At the center of those efforts is the Rare Disease Care Coordination Program within Cherokee Nation Health Services, which earlier this year had a caseload of more than 515 patients. The program provides comprehensive, multidisciplinary case management, coordinates care across health systems and specialty providers, and assists with specialty and out-of-state referrals when medically necessary. It also facilitates prior authorizations and payer approvals, works directly with hospital systems to streamline admissions and prevent avoidable emergency room visits, and helps patients establish primary care providers for long-term continuity of care.

Cherokee Nation also supports rare disease research through the Cherokee Nation Biobank, the only fully Indigenous-owned biobank in the Lower 48. The biobank collects and stores biological samples in a central location, allowing scientists to study the causes of diseases and better understand how they develop.

"From the beginning, this summit has been about making sure no Cherokee family faces a rare disease diagnosis alone," said First Lady Hoskin, who has been a driving force behind the summit since its inception. "Seeing it grow into its third year is a testament to the patients, families and healthcare professionals who keep showing up for one another. I am grateful to everyone who helped make this year's summit a success."

Cherokee Nation is expanding early identification and intervention for rare conditions. The Rare Disease Case Manager partners closely with the Pediatric Department to strengthen newborn screening initiatives that support early diagnosis and rapid care coordination. A Neonatal Intensive Care Unit in the new Cherokee Nation hospital allows the tribe to care for medically complex newborns closer to home, and a new Nuclear Medicine Lab expands advanced diagnostic capabilities, improving early detection, imaging precision and disease monitoring.

For more information about the Rare Disease Summit, visit cherokee.gov/rare-disease-summit.