Alliance Members

BioMarin is a leading, global rare disease biotechnology company focused on delivering medicines for people living with genetically defined conditions. Founded in 1997, the San Rafael, California-based company has a proven track record of innovation, with nine commercial therapies and a strong clinical and preclinical pipeline. Using a distinctive approach to drug discovery and development, BioMarin seeks to unleash the full potential of genetic science by pursuing category-defining medicines that have a profound impact on patients.

Chiesi Global Rare Diseases is a business unit of the Chiesi Group established to deliver innovative therapies and solutions for people living with rare diseases. As a family business, Chiesi Group strives to create a world where it is common to have a therapy for all diseases and acts as a force for good, for society and the planet. The goal of the Global Rare Diseases unit is to ensure equal access so as many people as possible can experience their most fulfilling life. The unit collaborates with the rare disease community around the globe to bring voice to underserved people in the health care system.

In 2026, Chiesi Group acquired KalVista Pharmaceuticals, a global pharmaceutical company dedicated to delivering life-changing oral therapies for people affected by rare diseases with significant unmet needs. The acquisition reflects Chiesi’s ambition to continue growing responsibly, investing in innovation, and building long-term value for patients, communities and future generations.

GeneDx combines unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity™, the world’s largest rare disease genomic dataset. This foundation powers GeneDx’s ExomeDx™ and GenomeDx™ tests — ranked #1 by expert geneticists and granted FDA Breakthrough Device Designation — enabling clinicians to deliver precise, fast, and actionable diagnoses. With over 25 years of innovation, more than 4,800 genetic diseases diagnosed, and over 1,000 scientific publications, GeneDx is building the genomic intelligence network that’s shaping the future of precision medicine: for patients, providers, and partners alike.

Revvity provides health science solutions, technologies, expertise and services that deliver complete workflows from discovery to development, and diagnosis to cure. With deep expertise in reproductive health, newborn screening, and genomics, Revvity is advancing early detection and precision medicine at every stage of life. Revvity Omics Pittsburgh Laboratory serves as the newborn screening laboratory for four states plus Washington D.C., in addition to offering sequencing services, all of which helps to identify critical conditions early and connect families to the care they need. Revvity Omics offers comprehensive clinical testing support to clinicians as well as its pharmaceutical partners with actionable insights to improve patient outcomes and has processed over 300 million tests in its lifetime. As a longstanding leader in NBS, Revvity’s various technologies have been used to screen more than 868 million babies globally and support public health programs worldwide.

Stoke Therapeutics is a biotechnology company dedicated to restoring protein expression by harnessing the body’s potential with RNA medicine. Using Stoke’s proprietary TANGO (Targeted Augmentation of Nuclear Gene Output) approach, Stoke is developing antisense oligonucleotides (ASOs) to selectively restore naturally-occurring protein levels. Stoke’s first medicine in development, zorevunersen, has demonstrated the potential for disease modification in patients with Dravet syndrome and is currently being evaluated in a Phase 3 study. Stoke’s initial focus areas are diseases of the central nervous system and the eye that are caused by a loss of ~50% of normal protein levels (haploinsufficiency). Proof of concept has been demonstrated in other organs, tissues, and systems, supporting broad potential for Stoke’s proprietary approach.