The Horizon Prize Pitch Competition | Strategic Dialogue

It takes an out-of-the-box initiative to improve treatment access for those who suffer from rare diseases. More than 7,000 rare diseases affect 400 million people worldwide who often cannot access the healthcare they need, according to Holly Copeland. Technology provides new hope.

Horizon Therapeutics launched the Horizon Prize with MIT Solve to seek solutions that would leverage data and analytics in order to do the following: improve the detection and diagnosis of rare diseases; promote community and connection among patients and their advocates; address the unjust and disproportionate burden of rare diseases faced by disinvested communities and historically-underrepresented identity groups; and, unlock collaboration by patients, scientists, and healthcare providers to improve patient outcomes.

The five Prize finalists took the stage to describe their project ideas. David Jacob began by reiterating that there is a large population of rare genetic disease sufferers, but that only about 25% of these are uncovered. Most are hiding in plain sight in the electronic medical records. ThinkGenetic partners with pharmaceutical companies and hospitals to use artificial intelligence and sensitive algorithms to uncover individuals with rare diseases. While ThinkGenetic ultimately won the pitch competition, the Strategic Dialogue presented four other strong innovations in the space of rare disease diagnostics and treatment.

The COVID-19 pandemic has proven that health disparities and inequalities are real, noted Dr. Sharon Hesterlee. MOVR Data Hub collects data from patients with multiple diseases to aggregate data and make it available to scientists, clinicians, and industry who are interested in care gap equity. It is powered by the Multiple Dystrophy Association Care Network and de-identifies data to maintain patient privacy.

In the villages of Tanzania, there are no oncologists or genetic testing, Ally Salim explained. There are limited resources for babies born with rare genetic diseases who may not be diagnosed in time. Four in 10 patients in Tanzania may be misdiagnosed at the primary point of care; rare disease patients far exceed that percentage. Elsa Health provides a specialist-level artificial intelligence platform to help emerging market healthcare providers recognize, diagnose, and treat rare diseases.

For patients with rare diseases who have exhausted their clinical options, access to personalized care is crucial. Emily Wang described Research for the People as a platform that supports open data, open research, open results, and open participation. They bring together researchers and experts in a hackathon format to sequence and diagnose rare diseases including rare cancers, then host that data freely and openly.

Rare diseases are a public health priority, said Sandro Morganella, but benefits are inequitable across populations. Congenica’s solution offers a way to provide effective, personalized treatments for rare diseases independent of social and racial patient background. The artificial intelligence-driven platform is backed by international certifications to inspire confidence in result quality.

• There remains a tremendous market opportunity to assist the 400 million people worldwide with rare diseases. Improving health equity through technology is not only the right thing to do, but it makes good business sense too. 
• The Horizon Prize was awarded to ThinkGenetic Inc. and Congenica. The winners will share a $150,000 prize. Watch the Award Ceremony here.