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February 28, 2023

A Rare Breed: Focused on Rare Disease Therapeutics

For Rare Disease Day 2023, we celebrate 10 pharma and biotech companies that are working on cures and novel treatments for rare disease patients.

Every day is Rare Disease Day for a patient who suffers from a rare genetic disorder. Genetic experts estimate that 7000 – 10,000 rare diseases have been identified and collectively these diseases are known to affect ~300 million people worldwide. In the United States alone, nearly 10% of the population has a rare disease and most of these people are children. For many of these patients, the hope for a cure or new treatment hinges on the success of pharma and biotech companies that are working on novel therapeutics that will save the lives — and improve the quality of life — of the millions people worldwide affected by rare diseases.

Today, we want to give a big shout out to 10 companies that are committed to making a difference in the rare disease community.


Providing rare disease patients with compelling new therapeutic options that will allow them to lead the fullest lives possible.
Rare disease focus: Farber Disease

Alexion Pharmaceuticals | AstraZeneca Rare Disease

Developing life-changing therapies for people living with rare disorders.
Rare disease focus: atypical hemolytic uremic syndrome (aHUS), hypophosphatasia (HPP), Lysosomal Acid Lipase Deficiency (LAL-D), Neurofibromatosis Type 1 (NF1), Neuromyelitis Optica Spectrum Disorder (NMOSD), Wilson Disease

BioMarin Pharmaceutical

Bettering the lives of those suffering from rare genetic disease.
Rare disease focus: Achondroplasia, phenylketonuria (PKU), neuronal ceroid lipofuscinosis type 2 (CLN2) disease, Maroteaux-Lamy Syndrome (MPS VI), Morquio A syndrome (MPS IVA), mucopolysaccharidosis I (MPS I)

Cyclo Therapeutics

Dedicated to developing life changing medicines through science and innovation for patients and families living with challenging diseases.
Rare disease focus: Niemann Pick disease type C1 (NPC)

Horizon Therapeutics

Dedicated to the discovery and development of medicines for patients with rare diseases.
Rare disease focus: Chronic granulomatous disease (CGD), nephropathic cystinosis,
neuromyelitis optica spectrum disorder, thyroid eye disease (TED)

Inozyme Pharma

Committed to restoring health and hope to patients with rare diseases driven by pathologic mineralization and intimal proliferation.
Rare disease focus: ENPP1 Deficiency, ABCC6 Deficiency

Sarepta Therapeutics

Engineering solutions for rare diseases with science on the forefront of precision genetic medicine.
Rare disease focus: Duchenne muscular dystrophy (DMD), Limb-girdle muscular dystrophy (LGMD), Charcot-Marie-Tooth Disease (CMT)

Sentynl Therapeutics

Dedicated to providing novel biopharmaceutical medicines that extend, improve, or enhance the lives of people with rare diseases.
Rare disease focus: Molybdenum cofactor deficiency (MoCD) type A, Menkes Disease, Lennox-Gastaut Syndrome (LGS)

Travere Therapeutics

Driven to identify, develop, and deliver life-changing therapies to people living with rare disease.
Rare disease focus: IgA Nephropathy (IgAN), Focal Segmental Glomerulosclerosis (FSGS), Classical Homocystinuria (HCU), Alagille Syndrome (ALGS), Bile Acid Synthesis Disorders (BASD), Cerebrotendinous Xanthomatosis (CTX), Cystinuria, Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)

Ultragenyx Pharmaceutical

Focused on developing first-ever approved treatments for rare and ultra-rare diseases and moving the rare disease community forward.
Rare disease focus: glycogen storage disease type Ia (GSDIa), ornithine transcarbamylase (OTC) deficiency, Wilson disease, osteogenesis imperfecta (OI)

At Genomenon, we are honored to partner with pharma and biotech companies like these that are pioneering treatments for rare disease patients. Together, we are working to raise awareness of rare diseases and ensure new therapies and companion diagnostics are safe and effective for these patient populations.

Talk to us about how Genomenon supports the missions of rare disease companies and foundations.

Karen Dowell, PhD
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