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Rare disease research funders worldwide: empowering researchers with funding information on Rare Disease Day 2024 

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Rare disease research funding blog 2024

Rare diseases, by definition, affect only a small fraction of the population individually. However, collectively, the approximately 7,000 rare diseases constitute a significant portion of global health challenges. According to a study published in the European Journal of Human Genetics, an estimated 263–446 million individuals are affected by rare diseases at any given time [1]

Despite notable scientific advancements, more than 90% of rare diseases still lack effective treatments [2]. Research funding plays a crucial role in advancing treatments for any disease. For rare diseases, research funding remains scarce. As an example, less than 0.1% of the U.S. National Institutes of Health’s (NIH) annual budget is allocated to rare disease research [3].  

Despite this scarcity, it is also true that rare disease research funding information could be more discoverable and accessible to researchers. Many researchers remain underinformed when it comes to the research funders that would support their work. This notion is supported both by our anecdotal conversations with researchers and evidenced by the studies in the scientific literature that seek to provide more research funder information [4, 5]. 

On this rare disease day, join us as we shine a spotlight on dedicated research funders committed to advancing the fight against rare diseases. 

Research funders funding rare diseases 

Research funding for rare diseases encompasses a wide range of sources, including national funders, non-profit organizations, and learned societies. These entities offer diverse funding opportunities, with some supporting rare diseases broadly, while others focus on specific conditions within the rare disease spectrum. 

Examples of global research funders that fund various types of rare disease research include: 

  • National Organization for Rare Disorders (NORD): Offers global funding for rare disease researchers. 
  • Pfizer: A pharmaceutical company with a comprehensive worldwide funding program, supporting research on rare diseases including sickle cell anemia, hemophilia, and cystic fibrosis. 
  • Congressionally Directed Medical Research Programs (CDMRP): A part of the US Department of Defense, providing global funding for rare diseases such as amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy, and rare cancers. 
  • National Institutes of Health (NIH): the leading biomedical research funder worldwide covering all medical needs, including rare disease research, many of these funding programs are open to researchers worldwide 

Some examples of regional research funders that fund various types of rare disease research include: 

These research funders are instrumental in driving progress across a spectrum of rare diseases, contributing significantly to the global endeavor to tackle these distinctive medical hurdles. Beyond these general supporters, there exist numerous funders who specialize in allocating resources to address specific rare diseases. 

Neurological rare diseases research funders 

Motor Neurone Disease (MND) and other muscular and motor neuron diseases 

Motor Neurone Disease (MND) is a cluster of neurological disorders affecting motor neurons, the cells governing voluntary muscle movements. This group includes sporadic amyotrophic lateral sclerosis (ALS, the most prevalent form without a clear genetic cause), familial ALS (inherited), progressive bulbar palsy (affecting speech and swallowing muscles), and primary lateral sclerosis (primarily influencing upper motor neurons). Support for MND research is provided by research funders such as Motor Neurone Disease Association (MNDA), which primarily supports researchers in the UK and Ireland. 

Amyotrophic lateral sclerosis research funders 

Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig’s disease, is a neurodegenerative condition characterized by the progressive degeneration and eventual loss of nerve cells, or neurons, in the brain, brainstem, and spinal cord. Numerous foundations provide vital support to researchers dedicated to advancing ALS knowledge. Key organizations in the USA, such as the ALS Association, Target ALS Foundation and the American Academy of Neurology (AAN), actively fund ALS researchers globally.  

Angelman syndrome research funders 

Angelman syndrome is a rare neurodevelopmental disorder characterized by developmental delays, intellectual disability, speech impairments, seizures, and a happy demeanor. The primary cause is the loss of function of the UBE3A gene. Charitable foundations actively contributing to Angelman syndrome research include Angelman Syndrome Alliance (ASA), Angelman Syndrome Foundation, and Angelman Syndrome Therapeutics (FAST). These research funders offer support to researchers worldwide, playing a vital role in enhancing the understanding and knowledge of Angelman syndrome. 

Ataxia Telangiectasia (A-T) research funders 

Ataxia Telangiectasia (A-T), also known as Louis-Bar syndrome is a rare, progressive, neurodegenerative disorder that typically begins in early childhood. A-T is caused by mutations in the ATM gene. Some funders that support A-T research include the National Ataxia Foundation (NAF), which funds researchers worldwide. The two UK-based funders A-T Society and Action for A-T fund researchers in the United Kingdom.  

Hematologic rare disease research funders 

Hematologic rare diseases encompass a diverse array of conditions affecting the blood system. One such disorder is hemophilia, a rare genetic condition characterized by impaired blood clotting, resulting in prolonged bleeding and heightened vulnerability to bruising. Another example is aplastic anemia, typified by insufficient production of blood cells in the bone marrow, leading to symptoms such as fatigue, susceptibility to infections, and bleeding tendencies.  

Hemophilia research funders 

Hemophilia is a hereditary bleeding disorder characterized by a deficiency or dysfunction of specific blood clotting proteins, known as clotting factors. Research funders specifically dedicated to hemophilia research include:  

Aplastic anemia research funders 

Aplastic anemia is a rare hematologic disorder characterized by a deficiency of all types of blood cells (red blood cells, white blood cells, and platelets) in the bone marrow. Some research funders dedicated to aplastic anemia research include the Aplastic Anemia and MDS International Foundation (AAMDSIF) (for researchers worldwide), and the Aplastic Anemia and Myelodysplasia Association of Canada (AAMAC) (for Canadian researchers only). 

Fanconi anemia research funders 

Fanconi anemia, another example of a rare disease with hematologic origin, is a rare inherited disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. The Fanconi Anemia Research Fund (FARF) supports Fanconi anemia researchers worldwide. 

Rare cancer research funders 

Rare cancers, while individually uncommon, collectively constitute a noteworthy percentage of diagnosed cases in both the USA and Europe, making up approximately 24% of annual cancer diagnoses [6]. Some rare cancers include bone cancers, esophageal cancer, Kaposi sarcoma, and Merkel cell carcinoma. Moreover, all pediatric cancers are considered rare cancers.  

Pediatric cancer research funders 

Despite their rarity, pediatric cancers present significant challenges with diverse types and limited treatment options. Research funders such as the Children’s Cancer and Leukaemia Group (CCLG) actively support research on rare tumors, contributing to continuous advancements in pediatric oncology in the United Kingdom. Some other leading pediatric cancers funders include: 

Primary bone cancer research funders 

There are four main types of primary bone cancer: osteosarcoma, Ewing’s sarcoma, chondrosarcoma, and chordoma. Additionally, there are less common primary bone cancers, such as spindle cell sarcoma of the bone, adamantinoma, angiosarcoma of the bone, and giant cell tumor of the bone. All types of bone cancers carry a high mortality rate. Detecting bone cancers early poses a challenge due to nonspecific symptoms that may resemble musculoskeletal injuries.  

Osteosarcoma is the most prevalent bone cancer that occurs in children and adolescents. Osteosarcoma Institute is a funding organization committed to improving treatment choices and survival rates for osteosarcoma patients. Scientists from around the globe are eligible to seek funding. The Bone Cancer Research Trust supports research focused on primary bone cancers and researchers based at a recognized UK institution can apply for funding. 

The disease might be rare, but the funding does not have to be 

At scientifyRESEARCH, we seek to make research funding information accessible to researchers in all disciplines and all over the world, so that research funders can fund the most promising research. For rare diseases, while the disease might be rare, we hope that through our efforts, the funding information for rare disease research is anything but rare. To date, our platform monitors over 70 rare disease research funders and almost 200 research funding calls from these funders. 

On this Rare Disease Day 2024, let’s make rare disease research funding information more accessible.  

References 

[1] Stéphanie Nguengang Wakap, Deborah M. Lambert, Annie Olry, Charlotte Rodwell, Charlotte Gueydan, Valérie Lanneau, Daniel Murphy, Yann Le Cam & Ana Rath. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020. 28(2): 165 – 173.  

[2] Petra Kaufmann, Anne R. Pariser & Christopher Austin. From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet J Rare Dis. 2018. 13: 198. 

[3] Qian Zhu, Ðắc-Trung Nguyễn, Timothy Sheils, Gioconda Alyea, Eric Sid, Yanji Xu, James Dickens, Ewy A. Mathé & Anne Pariser. Scientific evidence based rare disease research discovery with research funding data in knowledge graph. Orphanet J Rare Dis. 2021.  

[4] Stehr F, Forkel M. Funding resources for rare disease research. Biochim Biophys Acta. 2013. 1832(11): 1910-2. 

[5] Martin Reinecke, Kathrin Rommel & Jörg Schmidtke. Funding of rare disease research in Germany: a pilot study. J Comm Genet. 2011. 2: 101 – 105.  

[6] Specific Challenges of Rare Cancers. European Society for Medical Oncology (ESMO) website. Accessed February 27, 2024. 

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