For more than a decade, governments, nonprofits, and industry organizations involved in rare disease have stated as a matter of fact that there are 7,000 rare conditions or estimated the number to be between 5,000 to 8,000. The sources of these estimates are challenging to identify, given the circular nature of citations among groups repeating these figures. What’s more, these estimates have remained static even though nearly 300 new rare genetic diseases are added to principal knowledge bases each year. In an effort to develop a true count of rare conditions, RARE-X recently completed a research project that found the actual number is approaching 11,000. We spoke to research lead and Alexion Senior Director of Data Science Sebastien Lefebrve, Vice President of Patient Experience for Alexion Wendy Erler, and RARE-X CEO Charlene Son Rigby, about the new paper “The Power of Being Counted, the significance of its findings, and what the implications are for patient communities. An editor’s note: since recording this podcast, the authors of the RARE-X study have updated their work and revised the total number of rare diseases they identified to 10,867.

The Power of Being Counted

It was a difficult year for biotechs with drops in the major biotech indices, fewer new drug approvals, and more than 125 companies announcing layoffs. But there were also triumphs to celebrate. We continue our annual tradition of ending the old year and ushering in the new one with Adam Feuerstein, Polk Award Winning journalist and senior biotech writer for STAT. We discuss the good, the bad, and the ugly of biotech in 2022; Feuerstein’s annual best and worst CEO list; and what’s ahead at JPMorgan and beyond in 2023.

The Year in Biotech and What’s Ahead in 2023

ProFound Therapeutics has developed platform technology to catalogue and understand previously undetected human proteins and the role they play in health and disease. By focusing on proteins in the process of translation, the company said it has identified tens of thousands of undiscovered proteins that can provide untapped therapeutic targets. We spoke to Avak Kahvejian, co-founder and CEO of ProFound Therapeutics, about the company’s platform technology, the vastness of the unexplored proteome it seeks to discover, and how this can lead to the development of breakthrough medicines.

Searching the Dark Matter of the Proteome to Develop New Therapies

When people think of the potential for artificial intelligence to impact the biopharmaceutical industry, the focus is usually on drug discovery or in the clinic to help guide decision making with regards to pairing the right drug to the right patient. Yseop is focused on a more mundane use for the technology—the writing of clinical data reports. The company had been working in the financial services industry when it was approached by Sanofi to see if it could apply its natural language generation to make the creation of these reports faster and less expensive. We spoke to Emmanuel Walckenaer, CEO of Yseop, about artificial intelligence, its potential to change the way biopharmaceutical companies work in non-obvious ways, and why a large number of biopharmaceutical companies are turning AI to do more with less.

How AI Is Finding Its Way into Unexpected Places in Biopharma Companies

There’s been growing interest in exploring the potential of psychedelics to treat neuropsychiatric conditions. Onsero Therapeutics is part of a growing list of companies that are developing therapies that target the 5-HT2A serotonin receptor, the receptor to which several of psychedelics bind, and one that has been clinically validated in a number of psychiatric conditions. The company believes the therapies it’s developing have the potential to provide the treatment benefits of these substances without their better-known effects. We spoke to Tim Piser, chief scientific officer of Onsero, about the case for these drugs to treat conditions like mood disorder, how it’s developing its experimental therapies so they don’t induce effects, and why he believes benefits of these drugs can exist independently of them packing a psychedelic punch.

Treating Psychiatric Conditions with Tripless Psychedelics

Providers hold vast amounts of health data that can be harnessed to gain better insights into diseases, improve outcomes for patients, and help bring about an era of precision medicine. Despite advances in artificial intelligence to capitalize on these stores of data, much of it has remained siloed and out of the reach of researchers and drug developers who could put it to use. Last year, a group of 14 health providers caring for tens of millions of patients through thousands of care facilities across the country formed Truveta, a company that has built an AI platform to make structured and de-identified patient data available for research. We spoke to Terry Myerson, CEO of Truveta, about its platform technology, the work it is enabling today, and how AI and the availability of real-world data is changing how biomedical research is conducted.

Changing Outcomes with Data

The gut is the body’s largest sensory organ with a surface area 100 times that of the skin. It contains more nerve cells than the spinal cord, most of the immune system, and 95 percent of the body’s serotonin. Kallyope has assembled a discovery and translation platform to developed therapies to treat metabolic, gastrointestinal, and neurologic conditions by targeting the gut-brain connection. We spoke to Nancy Thornberry, chair of R&D for Kallyope, about the gut-brain connection, the company’s platform technology, and the case for targeting these interactions to treat a wide range of conditions.

A Company Where It takes Guts and Brains to Develop Drugs

Last year, Global Genes launched the inaugural Xcelerate RARE Open Science Data Challenge. The event brought together 24 teams of clinical researchers, data scientists, and biostatisticians from around the world. The teams competed to make the best use of patient-provided data to address significant challenges to research and medical management for patients with rare neurological diseases. A total of 27 different ultra-rare neurodevelopmental disease communities collaborated in the challenge. The results showed the value of open science environments where stakeholders with diverse backgrounds and perspectives come together to answer important healthcare questions. We spoke to Karmen Trzupek, senior director of scientific programs for Global Genes, about Xcelerate RARE, how the effort is helping to change the understanding of the neurodevelopmental diseases involved in the challenge, and why it more broadly validates RARE-X’s approach to collaborating with patient communities to collect high-quality, research grade patient data.

Changing the Understanding of Rare Diseases with Data

We are a dedicated team of committed forward thinkers transforming rare disease in support of patients. PATIENTS' DATA POWERING PROGRESS

The Power of Being Counted

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