Companies On the Forefront of Rare Disease Innovation

Ahead of Rare Disease Day (February 28th), we’re celebrating key companies making waves in this lifesaving space, driving innovation despite the odds. Rare diseases affect millions worldwide, yet treatments remain scarce due to the complexities of research, development, and funding.

Furthermore, forming the strategic partnerships—locally and globally—that enable rare disease therapies to ultimately get to patients can make or break success in this space.

Read on for notable pharma and biotech companies pushing boundaries to change that:

1. Rocket Pharmaceuticals

Rocket Pharmaceuticals is advancing an integrated pipeline of genetic therapies for rare, life-threatening pediatric diseases with high unmet needs. Their expertise spans both adeno-associated virus (AAV) and lentiviral (LV) vector-based approaches, aiming to deliver transformative therapies to patients.

2. Ultragenyx Pharmaceutical Inc.

Ultragenyx focuses on developing novel treatments for rare and ultra-rare genetic diseases. With a diverse pipeline that includes biologics, small molecules, gene therapies, and RNA-based treatments, Ultragenyx is addressing conditions affecting the bone, endocrine, metabolic, muscle, and central nervous system.

3. Editas Medicine

Editas Medicine is pioneering CRISPR-based gene editing therapies to tackle rare genetic disorders. Their groundbreaking research includes therapies for Leber congenital amaurosis type 10 (LCA10), a rare inherited form of blindness, marking significant progress in the field of in vivo gene editing.

4. SOM Biotech

SOM Biotech specializes in AI-driven drug discovery for orphan diseases. Their pipeline includes treatments for neurological conditions such as Huntington’s disease and Tay-Sachs disease, leveraging artificial intelligence to identify and develop repurposed therapies faster and more efficiently.

5. NS Pharma

NS Pharma is dedicated to developing innovative treatments for rare diseases, focusing on neurological and inflammatory conditions. Their work in exon-skipping therapies and cell-based approaches holds promise for patients with Duchenne muscular dystrophy and other debilitating disorders.

Expediting Rare Disease Innovations Through Strategic Partnerships

As a boutique life science business development organization, and with a network of 130,000+ senior executives in the life sciences, Sosna + Co accelerates deal timelines and ensures alignment with your strategic objectives. Our proven track record in rare disease partnerships and licensing enables us to identify the right opportunities and deliver measurable results.

Seeking strategic partners to accelerate your rare disease asset’s path to market? Get the Partnering Success in Rare Disease 2025 Playbook and gain insights into licensing, funding, and collaborations to navigate the complexities of rare disease development. Download here.