Advancing Rare Disease Research Through AI, Real-World Evidence and Equity

Rare diseases affect an estimated 300 million people worldwide, yet more than 95% of rare diseases have no approved therapy.

For many rare disease patients, the path to diagnosis is long and uncertain, often involving years of testing and referrals before reaching a specialist.

Addressing these gaps requires innovation that integrates science, technology and compassion to deliver meaningful outcomes for underserved communities.

Bringing this vision to her new role, Dr. Rachele Berria joined Chiesi Group in early 2025 as Senior Vice President and Head of Global Medical Affairs. With more than 15 years of experience across academia and industry, she has contributed to over 20 novel therapies in reproductive endocrinology, cardio-renal disease, metabolism and immunology.

Before joining Chiesi, she led the US Medical Team at AstraZeneca and held senior roles at Roche, Genentech, Sanofi and Alexion. What drew her to Chiesi, she said, was the opportunity to combine scientific innovation with genuine purpose.

“I was really trying to find a place where my experience could spark something new and different,” she explained. “At Chiesi, we start every day with patients. Every town hall begins with a patient story. You live it and breathe it.”

For Dr. Berria, that authenticity, combined with Chiesi’s rare-disease focus and certified B Corp status, made the move compelling. “Rare diseases are a field that truly satisfies my curiosity, and 95% of them still don’t have an approved treatment,” she said.

Equally important, she added, are Chiesi’s values. “They achieved a zero gender pay gap, which is rare and incredibly meaningful.”

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Embedding Sustainability in Medical Affairs

As one of fewer than 1% of companies globally to achieve B Corp certification, Chiesi takes a holistic view of sustainability. Its headquarters in Parma, Italy, holds LEED (Leadership in Energy and Environmental Design) Platinum certification, featuring CO₂ sensors and automated shading to optimize energy use, small but tangible expressions of a culture that links planetary and patient health.

“The B Corp certification is significant, but it’s also practical,” Dr. Berria said. “We know climate change disproportionately affects people with rare diseases.”

She cited several examples: “If you’re immunocompromised, your infection risk rises with temperature increases. For Fabry disease, a lysosomal storage disorder, we see more cardiac complications.”

Recognizing this link, her team is working to raise awareness of how climate change can worsen outcomes for people living with rare diseases, collaborating with clinicians to better anticipate patient needs.

“It goes beyond corporate responsibility,” she said. “It’s about anticipating patient care and understanding the full patient experience.”

Accelerating Rare Disease Diagnosis Through AI and Predictive Analytics

Early diagnosis remains one of the greatest challenges in rare diseases. “70% of rare diseases are genetic,” Dr. Berria noted, “and many appear in childhood, shaping a person’s entire life.”

To shorten diagnostic delays, Chiesi is integrating predictive analytics, pattern recognition and AI-driven diagnostic tools. “Outside of centers of excellence, many doctors may never see a single case,” she explained. “We’re helping clinicians identify diseases proactively.”

Her team’s strategy extends beyond technology to global collaboration. 

In conditions with only a handful of cases worldwide, traditional randomized controlled trials can be impractical. “That’s where real-world evidence [RWE] becomes essential,” Dr. Berria said. “We use real-world evidence to complement our trials and to support regulatory and reimbursement decisions.”

RWE as a Bridge Between Science and Access

“Real-world evidence is a true game-changer,” she emphasized. “The so-called N-of-one diseases make it unrealistic, or not time-efficient, to run classical randomized trials.”

She explained that regulators are beginning to adjust their frameworks to better accommodate the challenges of studying very small patient populations.

For instance, this year, the FDA launched the Rare Disease Evidence Principles (RDEP) initiative to make the review process faster and more predictable for therapies targeting rare diseases caused by known genetic defects and associated with significant unmet need. The initiative offers developers clearer guidance on the types of data that can be used to demonstrate clinical benefit, supporting smaller, more pragmatic study designs and faster access to treatments for patients who lack therapeutic options.

For Chiesi, RWE now informs every phase of development, from study design to payer negotiations.

“Before we design a trial, we look at the real-world experience of patients and their unmet needs,” Dr. Berria explained. “Even when a randomized controlled trial is required, we embed that lens, incorporating patient-reported outcomes and quality-of-life measures.”

One tangible example: Chiesi recently used natural-history data on caregiver burden to help secure reimbursement for a treatment for alpha-mannosidosis in pediatric patients in the UK. “It shows how RWE can directly influence access and affordability,” she said.

Equity as the Standard, Not the Exception

Equitable access, Dr. Berria stressed, is central to Chiesi’s identity as a B Corp. “Underserved communities often face longer diagnostic delays,” she said. “We’re partnering with NGOs and policy experts to keep the focus on those who need it most.”

The company also maintains a global compassionate-use program. “Any clinician can request access,” she said. “We recently streamlined the process through an online platform so doctors can submit cases and get a rapid response. It’s about removing friction from the system.”

And because Chiesi is privately owned, she added, it can sustain long-term equity initiatives without short-term financial pressure. “It makes it easier to stay true to our mission.”

The Digital Transformation of Medical Affairs

Looking to the future, Berria sees AI, digital health and gene therapy as the forces most likely to reshape Medical Affairs.

“The first wave of AI helped us automate repetitive internal processes, from literature searches to medical information handling and publication management,” she said. “Now we’re using AI for diagnostics and patient screening.”

Her team is developing interactive digital portals that enable seamless communication between healthcare professionals and Medical Affairs, while also extending engagement to patients, particularly in rare diseases.

“These patients are often their own thought leaders,” Berria said. “As Janet Woodcock, a leader at the FDA, once said, they know their condition’s science as well as many specialists. That level of knowledge is enviable, and digital tools can help maintain that dialogue.”

She also sees AI and wearables transforming disease monitoring, even in genetic conditions. “While rare diseases originate in the genome, they affect organs like the heart, kidneys and skin,” she explained. “Wearables can provide real-time data that inform care and improve quality of life.”

Finally, Dr. Berria expects AI to streamline regulatory interactions, expediting therapy approvals. “I hope it can help us make the process faster for patients who can’t afford to wait,” she said.

Expanding the Scientific Horizon: Gene Therapy and Drug Delivery

Beyond data and digital tools, Chiesi continues to invest in next-generation science.

“We’re exploring gene therapy and new drug-delivery modalities,” Dr. Berria said. “For instance, our recent partnership with Key2Brain focuses on enabling medications to cross the blood-brain barrier while minimizing central nervous system side effects.”

These advancements, she believes, will require Medical Affairs to operate as both a scientific and translational hub, bridging discovery, regulatory dialogue and patient experience.

“We have the clinical background, the relationships with HCPs and patients and the understanding of market dynamics,” she said. “This comprehensive set of skills positions us as the best to really work on this front as well.”

Leading With Purpose

As Chiesi expands its rare disease footprint, Dr. Berria’s approach to leadership is rooted in collaboration and vision.

“Pioneering innovation is not only possible here, it’s encouraged,” she said. “For me, this is a tremendous opportunity for Medical Affairs to shape equitable outcomes using AI and digital health to break new ground.”

Her guiding principle is simple but powerful: “Our mission is leaving no patient behind.”