At CNBC Cures, Becky Quick Leads Clarion Call for Rare Disease Research

The CNBC Cures Summit, held in New York earlier this week, opened with a simple but urgent premise: every step forward changes someone’s life. Moderator Becky Quick set the tone by explaining that CNBC Cures was created so that rare disease families could “learn from each other” as they navigate the complex scientific and medical systems that most people never expected to enter. Quick described the path as “a steep learning curve”—one she knows from personal experience—but emphasized that many groups are “doing it really, really well.”

Quick’s daughter lives with SYNGAP1, and she has described the diagnosis as devastating but also clarifying—a moment that brought understanding and the hope that naming the condition might someday lead to a cure. That experience, and the awareness that time is the most precious resource for rare‑disease families, is what pushed her to create CNBC Cures.

The summit brought together an impressive line-up of regulators, biotech leaders, investors, scientists, and parent-innovators to confront a central question: can the healthcare system keep pace with the science transforming rare disease medicine?

The opening panel underscored a core tension running through the summit: scientific breakthroughs in rare disease are accelerating, but the regulatory frameworks that were built decades ago are struggling to keep pace. Former FDA Commissioner Scott Gottlieb, MD, noted that the agency’s scientific workload has grown dramatically even as review capacity has thinned, while former Republican Senator Rick Santorum emphasized that “personnel is policy,” and that sustained expertise is essential for consistent decision making.

Massachusetts Congressman Jake Auchincloss stressed that long-term stability is the foundation of innovation: “Industry makes investments over the course of a 10-to-20-year time horizon, and they want to see congressional ballast, bipartisan, that allows them to have confidence that what the FDA is saying is going to have that same persistence across administrations.” He argued that modernizing clinical trials is the most urgent priority, emphasizing better, faster, cheaper trials—transparency, early engagement, consistent endpoints, and real clinical trial reform.

“I don’t call it ‘rare disease.’ I call it ‘personalized therapy,’” Auchincloss said, arguing that as platforms like mRNA therapeutics advance, personalized interventions will become the norm rather than the exception. He pushed back on the idea that innovation and affordability are mutually exclusive, noting that there’s a “false choice” being presented, and “with strong intellectual property protections and good insurance design, you can have both.” The message was clear: the science is ready, and the regulatory system must evolve to match its pace.

That tension carried into Quick’s conversation with Biogen CEO Chris Viehbacher, who described how the company is reorganizing around rare disease as the next frontier of precision medicine. “One in ten Americans suffers from a rare disease,” he noted, emphasizing that even reaching a diagnosis can take years. Advances in gene therapy, biomarkers, and genetic testing have finally made it possible to target the root causes of many conditions, but the economics remain uncertain. Rare disease drug development is painstaking and expensive, yet the impact is profound. “This is where you can see a dramatic impact on patients,” he said.

The scientific heart of the summit came from n-Lorem Foundation founder Stanley Crooke, MD, PhD, and Broad Institute physician scientist Anna Greka, MD, PhD, who described a field undergoing rapid transformation. Greka outlined her team’s work on “nodal biology”—identifying molecular nodes that link multiple rare diseases and could be treated with a single therapy.

“The technology is here today, but we have to derisk it,” Greka said, explaining her vision of modular, preapproved components that could be deployed in bespoke genetic “surgeries” for individual patients.

Crooke, a pioneer of antisense oligonucleotides, offered both optimism and realism. “We can hope for more and dream bigger,” he said, but cautioned that “if you’re going to do something new, you will make mistakes, you will run into dead ends, and it will take longer than you think.” He reminded the audience that biotech is built on iteration: “Every one of those failures was an opportunity to learn.”

Technology’s role in accelerating that opportunity was the focus of a conversation with OpenAI executive and Chronicle Bio founder Fidji Simo, who suffers from a neuroimmune condition. She argued that AI will not replace scientific discovery but will dramatically speed it up. The diagnostic odyssey—currently averaging seven years for rare disease patients—could shorten as AI integrates global data streams. “The challenge is information gathering and connecting the dots,” she said, but predicted “a massive acceleration of the drug discovery process” with AI.

The economic reality behind these breakthroughs surfaced in a discussion with RA Capital’s Peter Kolchinsky, PhD, and Aradigm Health CEO Will Shrank, MD. Kolchinsky put it starkly: “It is outrage and…[the] power of shame that drives the insurance system.” Innovation only scales when the economics work, and in rare disease, the hidden operator is not the drug company—it’s insurance. “All of this innovation is great,” he said, “but how is it supposed to be affordable?” Their conversation underscored a theme that resurfaced repeatedly: scientific possibility means little without access.

Nowhere was that tension clearer than in the case study with Sarepta CEO Doug Ingram, who addressed the controversy surrounding Elevidys, the company’s $3.2 million gene therapy for Duchenne muscular dystrophy, which came under intense FDA scrutiny last year after two treatment‑linked patient deaths.

Ingram described how families shaped his role from duty to passion and urgency from the moment he joined the company. Families told him, “‘We don’t have time.’ Every single day is a lost day,” he said. He argued that the current regulatory environment is so fragile that “Elevidys wouldn’t exist in today’s environment,” and warned that inconsistent decision-making can ripple across families, markets, and future therapies. “If we don’t have certainty, if we don’t have a good pathway…we will lose the opportunity to change the face of these diseases.”

If Ingram illustrated the fragility of innovation, the next session showed its engine. The Foundation for Angelman Syndrome Therapeutics (FAST) has become a model for patient-driven drug development. Vice chair Mike Hanrahan described their approach as designed to derisk early science and attract industry partners. But it was FAST’s CSO, veterinarian-turned-biotech-leader Allyson Berent, DVM, who delivered the day’s most personal testimony. Her daughter, Quincy, who has the most severe form of Angelman syndrome, was once expected to never speak. Today, after receiving an ASO therapy, she has 27 spoken words and 250 words on her iPad.

“The most important word she has is ‘help,’” Berent said. “That word means her life is going to be better and she’s going to be safer.” Berent rejected the notion that parents cannot drive drug development. “People will say to us parents can’t develop drugs. I couldn’t disagree more,” she said. “First-in-human is scary, but…we know the risk of doing nothing, which is so much greater.”

That theme carried into Leonard and Harriet Schleifer’s reflections on their son, David. Leonard Schleifer, MD, PhD, Regeneron’s cofounder and CEO, noted that “genes do not define individuals… they identify individuals,” urging broader sequencing to illuminate ultrarare variants. Harriet emphasized the lifelong needs that remain even after diagnosis, realizing “we had to create a life for him… a sense of independence and purpose and friends,” she said, describing the community they built at the Chapel Haven Schleifer Center.

The summit ended with former NFL quarterback Boomer Esiason and his son Gunnar, who spoke candidly about the reality of cystic fibrosis (CF) and the persistence required for families to push research, access, and awareness forward—a reminder that parent advocates have long been the engine of rare disease progress. The successful development of CF drug therapies by Vertex Pharmaceuticals offers patients like Gunnar a near-normal, healthy life.

Together, their stories underscored that families often create the pathways that science eventually follows. The conversations at CNBC Cures painted a clear picture: rare disease science is advancing faster than at any point in history—but the systems meant to deliver therapies and research results are out of sync. Regulators, payers, and policymakers must evolve because the opportunity is extraordinary and the stakes are human.

As Crooke put it, “We stand at the edge of opportunity that is truly extraordinary.” The question now is whether we will continue to build the pathways that allow science to reach the people who need it most.