June 2024

To: CIRM Board of Directors and governing bodies

Subject: CIRM Future Funding of Rare Genetic Disorders

We are California-based patient advocacy organizations, researchers, clinicians and drug developers. We represent a large group of California taxpayers who also are stakeholders in the development of therapies for rare genetic diseases affecting children at a high proportion, 30% of whom will not live to see their fifth birthday.

We understand (as noted in a recent San Francisco Business Times article) that CIRM currently is undergoing a re-prioritization process when it comes to funding.

As California taxpayers, residents, patient caregivers and professionals, we wanted to take this opportunity to strongly urge CIRM to continue to allocate at least 50 percent of its funding to clinical research into rare diseases (figure pulled from CIRM’s annual reports) based on the following facts: Rare diseases with high unmet need affect a large population of Californians – and regenerative medicine holds the keys to cures and therapies.

One in ten Californians – approximately 3 million residents – are living with rare disorders. Many of these patients – half of them children – face fatal, life-threatening, and/or profoundly disabling disease outcomes, and the majority of them currently have no treatment. When you account for the approximately three additional family members impacted financially, emotionally, physically and mentally by each rare disease patient, rare diseases impact a total of 9 million Californians. Further, 80% of rare disorders are caused by specific genetic mutations which are most effectively addressed by the regenerative medical interventions CIRM is designed to fund. The expense of these patients to the State of California is 3 to 5 times higher than those of patients without rare diseases, and can be as high as $200,000 a year per patient (NIH study suggests people with rare diseases face significantly higher health care costs | National Institutes of Health (NIH)). Continuing to fund rare disease research will ultimately save the lives of Californians, and result in reduced healthcare costs statewide – this is a significant and measurable benefit to taxpayers.

1. CIRM bylaws specifically mandate research into orphan/rare diseases

In Article 2, Section 1 of the CIRM bylaws: (a) To make grants and loans for stem cell and genetic research, for research facilities, and for other vital research opportunities to realize therapies, protocols, and/or medical procedures that will result in, as speedily as possible, the cure for, and/or substantial mitigation of, major diseases, injuries, and orphan diseases.

2. Funding rare disease research leads to a greater understanding of more common conditions and can yield medical breakthroughs for those diseases

As stated in CIRM’s 2023 Annual Report, “Investigating rare diseases, defined as impacting fewer than 200,000 Americans, presents opportunities for impactful regenerative medicine treatments and breakthroughs. Exploring their interconnectedness maximizes the impact of CIRM funding and may improve healthcare outcomes for more people.” For example, the intersectionality of rare diseases and neurological diseases including Alzheimer’s and Parkinson’s is significant. Rare disease research will likely yield important findings to significantly impact the treatment of those more common diseases.

3. If CIRM de-prioritizes funding for rare disease research, millions of Californians with rare conditions will be left with no hope or treatments on the horizon

CIRM has led the way – not only for Californians with rare diseases, but for global rare disease patients – by funding rare disease research, which is otherwise left largely unfunded due to the lack of investment by the pharmaceutical industry, investors and venture capital firms. Funding is readily available for larger indications. For example, the federal government is investing $3.8 billion for Alzhiemers’ research, the therapeutics market for Alzheimer's is valued at $4.24 billion and is expected to grow to $15.10 billion by 2030. However, the majority of today’s 10,000+ known rare diseases (the majority of these diseases with only 50-2,000+ patients diagnosed) cannot take advantage of the capital markets due to their populations currently being too small for pharma investor returns. Rare disease patient advocacy groups – many based in California – alone can’t shoulder the burden of funding this research. Even if they could, this would result in significant inequities as patient advocacy groups with the resources to drive treatments are usually led by families in high socio-economic categories.[1] Again, leaving millions of Californians with rare diseases effectively abandoned from a health perspective.

4. CIRM funding is the missing link needed to fund cures and treatments for rare diseases

Unlike other, more common diseases (e.g., Alzheimer’s), we have the science and the technology today to create life-changing and often curative treatments for rare diseases. What is needed to close the gap between today’s disease and tomorrow’s treatment/cures is funding. In the past five years, gene-based technology development has burgeoned. The technology needed to address 80% of genetically defined rare diseases has been developed and is waiting for funding to deploy it. Two powerful recent examples — the application of gene therapy for SMA (Spinal Muscular Atrophy) patients and the current gene-based therapy clinical trials for Angelman Syndrome, Rett Syndrome and NGLY1 deficiency. In addition, California centers of excellence – UCLA, UCSD, UCSF, UC Davis, USC, Stanford, CalTech and other California universities – are focused on rare diseases and ready to put CIRM funding into action for treatments and cures. This will expedite results and return taxpayer dollars.

Rare diseases are a public health crisis and exactly where public, taxpayer dollars can and should make the biggest impact. CIRM has become a key partner for the development of rare disease therapies and has profound impact on the possibility of delivering lifesaving and life-changing therapies to patients with the highest unmet need and burden of disease. In finding cures and treatments for rare diseases, CIRM will ultimately save the lives of Californians, and reduce healthcare costs statewide – a significant and measurable benefit to taxpayers.

Again, as leaders of California-based patient advocacy organizations, researchers, clinicians and drug developers, and as California taxpayers, residents, patient caregivers and professionals, we strongly urge CIRM to continue to allocate at least 50 percent of its funding to clinical research into rare diseases.


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