3 Reasons to Support Rare Disease Research

Many rare diseases are deadly and devastating in a way that inspires urgency and a willingness to try experimental interventions, yet treatments are only available for fewer than 5% of them.

The author's mother with his son Ari.

If you have ever been asked to donate your hard-earned money to help research some obscure medical condition, you might have wondered why you should bother. Perhaps you worried your donation wouldn’t make a difference. Or maybe you felt this was someone else’s crusade, and just didn’t care.

Before my own son was diagnosed with one of these obscure diseases, I wrestled with precisely those types of thoughts. And even now, after being unwittingly catapulted into the world of rare disease research and patient advocacy, I often ask myself why I should contribute to causes that may not touch my life in any direct or personal way.

I faced this dilemma a few weeks ago, when my employer announced a corporate fundraiser here in Singapore, where I live, for a local NGO that helps children with rare genetic diseases. As the parent of a child with a rare and potentially debilitating disease, this fundraiser should have been right up my alley, but after filling out some forms and preparing to submit my donation, I hesitated.

Numerous doubts started swirling. Why should I care about this specific cause when there are so many other problems in the world? Didn’t I already give to several other charities this year? And why should I keep going out of my way to help others when I am already under pressure to pay for my own son’s hefty medical costs, most of which are not reimbursed here in Singapore?

I’m sure some of my friends, family, and colleagues faced similar doubts when I asked them to donate to my own fundraiser for Prader-Willi syndrome (PWS), the genetic condition that impacts my son. If you’re one of these people, and you decided not to donate, I won’t hold it against you. But for what it’s worth, here are three reasons why I believe rare disease research is a worthy cause that deserves your consideration.

Rare disease touches all of us

In the United States, a disease is defined as “rare” if it afflicts fewer than 200,000 people. Many diseases are much rarer than that, with some impacting just a handful of people globally. Given such small patient numbers, why invest in conditions that afflict an unlucky few when we can contribute to causes that benefit many?

If you zoom out just a little bit, however, the scale of the problem becomes clearer. Rare diseases are individually uncommon, but collectively affect an estimated 400 million people worldwide. Roughly half of rare disease patients are children. Many will not live to see their fifth birthday. Others will survive but live in pain. Probe around just a little bit in the rare disease community and you’ll find countless stories of immeasurable suffering and loss.

This is no one’s fault. Rare diseases are hard to predict and prevent. Some of them occur randomly and can happen to anyone, no matter how pristine one’s genetics. Others are heritable and can be avoided through carrier screening and preimplantation genetic testing, but such technologies are not accessible to most of us. A few can be detected early through routine prenatal diagnostics and newborn screening, but most are not diagnosed until it’s too late.

Rare disease R&D is like an insurance policy that helps to protect all of us against the slings and arrows of genetic fortune. As with any insurance policy, chances are you won’t need it, but you’ll be very happy to have it if you do.

Market forces alone won’t fix this problem  

While most people will acknowledge that rare disease is an important cause, some might argue that individual donors are not well placed to fund medical R&D. Shouldn’t market forces be left to their own devices?

It’s certainly true that many leading pharma and biotech companies see rare disease as the next frontier for medical innovation and profit-making. More than half of FDA approvals for new drugs in 2021 had an “orphan” designation, and rare disease medicines now account for more than 20% of sales at many big pharma companies, a share that is widely predicted to grow.

Yet much of this activity would not be possible without the dogged efforts of non-profit patient advocacy groups. Often driven by concerned caregivers and citizen-scientists, these organizations help to pool resources, build communities, support early-stage R&D, confer with regulators, and engage in various other activities that entice pharma and device companies to invest in conditions that might otherwise be regarded as too risky.

Public funding also plays a catalytic role in rare disease research, but some believe more government resources are sorely needed—particularly amid the recent pullback and capital crunch in biotech equity markets. As the CEO of Global Genes, a rare disease advocacy group, noted in a recent editorial, “there is no Operation Warp Speed for rare diseases; no Moonshot; no multinational or multi-billion dollar coordinated treatment development effort.”

Rare disease R&D generates scientific progress

As with all types of R&D, rare disease research drives scientific and technological progress that benefits all of us—not just those affiliated by rare conditions. But why might rare disease be a particularly fertile ground for medical discovery?

One reason is that most rare diseases are genetic in origin, providing clear use cases for fast-evolving diagnostic and therapeutic modalities like gene therapy and sequencing (check out this recent Techonomy Q&A with Dr. Phil Reilly, a decorated biotech entrepreneur and clinical geneticist, for an inspiring discussion of some of the innovations on the horizon). Many rare diseases are also deadly and devastating in a way that inspires urgency and a willingness to try experimental interventions.

Yet despite decades of scientific progress, treatments are available for fewer than 5% of the thousands of rare diseases that have been characterized in the medical literature. We are still only scratching the surface of what’s possible, so the next time someone invites you to donate to a rare disease fundraiser, consider taking a moment to open your heart and your wallet. In the end, I was happy to pony up to help that local NGO’s work.

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