Rare Disease

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An estimated 7,000 rare diseases affect 1 in 10 people globally. Rare diseases are difficult to diagnose due to a lack of symptom recognition and standardized diagnostic criteria. Many patients spend years—sometimes over a decade—searching for the correct diagnosis, often facing multiple misdiagnoses along the way. When they finally receive answers, they’re met with treatments that are limited, ineffective, or cause debilitating side effects. The rarity of these diseases and lack of treatment options can leave patients feeling alone and isolated without a path forward.

Critically, philanthropic funding plays a crucial role in rare disease research, where it can be leveraged to fill funding gaps, build community, and incentivize collaboration. Philanthropic entities and their stakeholders are addressing biology and mechanistic gaps and market failures in the rare disease research space caused by limited funding, small patient groups, and often disconnected efforts. Their support is de-risking early-stage research, attracting investment, and lowering barriers along the path to treatment approval. This unique role for philanthropy makes the development of a diligence-based and data-driven strategy for the application of funding essential.

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Active Funding Programs

Accelerating Discovery for Frontotemporal Dementia

SPARC has worked with the Kissick Family Foundation since 2022 to advance research into frontotemporal dementia (FTD) through the Kissick Family Foundation FTD Grant Program.

Breakthrough Research in ALS

SPARC partnered with Tambourine Philanthropies to support innovative early-stage research into amyotrophic lateral sclerosis (ALS) through the ALS Breakthrough Research Fund.

Ann Theodore Foundation BSI

SPARC partnered with the Ann Theodore Foundation to support basic and translational research projects in sarcoidosis through the Ann Theodore Foundation Breakthrough Sarcoidosis Initiative. This program has been active since 2021.

Ann Theodore Foundation LOMAS

SPARC is working with the Ann Theodore Foundation to administer the Ann Theodore Foundation Learning Opportunities in Medicine and Sarcoidosis grant program, which supports early career investigators as they seek to establish their careers in sarcoidosis research.

Programmatic Areas

Leber Hereditary Optic Neuropathy (LHON)

LHON is a mitochondrial disease causing sudden optic nerve damage and central vision loss, with no FDA-approved treatments. SPARC has developed philanthropic strategies for accelerating therapies to halt, reverse, or prevent vision loss from LHON.

Neurodevelopmental Disorders

CAMK2 (calcium/calmodulin-dependent protein kinase II)-related neurodevelopmental disorders cause intellectual disability, delayed development and motor skills, and behavioral abnormalities, with no treatments beyond symptom management. SPARC is developing philanthropic strategies to support researchers in the discovery and development of CAMK2 therapeutics.

Uterine Leiomyosarcoma

Uterine leiomyosarcoma (uLMS) is a rare and aggressive cancer of the uterus that often mimics benign fibroids, grows rapidly, and carries a poor prognosis. SPARC collaborated with the Briger Foundation for Oncology Research to conduct a comprehensive landscape analysis of uLMS and identify critical research gaps and strategic opportunities where philanthropic investment can accelerate scientific discovery, pave a path toward precision medicine, and ultimately enhance outcomes for patients.

Childhood Brain Cancer

Childhood brain cancer is the leading cause of cancer-related death in children and adolescents, comprising over 16 percent of pediatric cancer diagnoses and encompassing over 100 rare and complex tumor subtypes. SPARC has partnered with leading institutions and a dedicated anonymous donor to support an integrated, global program that spans molecular research, therapeutic development, and cross-sector collaboration to accelerate innovation, address systemic funding gaps, and improve outcomes for affected children and their families.

Glioblastoma

Glioblastoma multiforme is the most aggressive and deadly form of brain cancer, with limited treatment options and a median survival rate of just over one year. SPARC has driven progress by identifying strategic funding opportunities, identifying opportunities to advance clinical trial innovation, and accelerating research aimed at improving outcomes.

Follicular Lymphoma

Follicular lymphoma is a slow-growing, incurable form of non-Hodgkin’s lymphoma characterized by cycles of remission and relapse, with a subset of patients experiencing rapid progression and poorer outcomes. The Follicular Lymphoma Foundation engaged SPARC to advance research and accelerate treatment innovation by identifying strategic therapeutic funding opportunities and fostering collaborations that maximize philanthropic funding.

Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a genetic disease that can cause a broad range of abnormalities, among the most impactful being the growth of tumors on nerves, which can compromise essential functions such as vision, in addition to developmental impacts, including cognitive issues, bone deformities, and heart problems. SPARC reviewed the research and clinical care ecosystems to help patients, families, and donors make informed decisions about supporting NF1 efforts.

Sarcoidosis

Sarcoidosis is a life-changing immune disorder that can affect any organ in the body, leading to severe decreases in quality of life and potentially death. SPARC has developed and implemented multiple philanthropic strategies alongside the Ann Theodore Foundation that are dedicated to supporting sarcoidosis research and building the research community.

Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS) is a fatal motor neuron disease that causes progressive paralysis and has no known cure. SPARC has developed, refined, and implemented philanthropic strategies for organizations dedicated to ALS research and care.

Program Experts

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Cara Altimus, PhD

Managing Director

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Caitlyn Barrett, PhD

Director

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Hermela Assefa

Associate

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Quinton Banks, PhD

Associate Director

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Elizabeth Burke, PhD

Associate Director

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Ishtiaq Mawla, PhD

Associate Director

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Nadia Penrod, PhD

Senior Associate

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