Dedicated to people with genetically defined diseases

We’re here to make a difference in the lives of patients. We build sincere and trusting relationships based on humility, transparency and a clear desire to listen and to understand their experiences of living with a genetically defined disease.

Connecting the dots in cellular metabolism

Building on nearly 15 years of pioneering research and breakthroughs in cellular metabolism, we are advancing new innovations in the therapeutic areas where we believe our discoveries can have the biggest impact: genetically defined diseases.

Genetically defined diseases are a broad group of more than 600 rare diseases caused by mutations of single genes to conditions resulting from alterations in one or many genes (polygenic diseases) that affect up to millions of patients worldwide. Many of these diseases are severe or life-threatening, and current treatment options for these disorders are generally limited. Our goal is to develop mechanistically specific, small molecule approaches with the potential to have disease modifying and long-term rather than merely palliative effects.

We focus on genetically defined diseases that share the following common set of features:

  • Monogenic or polygenic diseases, as well as disease adjacencies to the genetically defined conditions
  • Severe clinical presentation coupled with significant unmet medical need
  • Rare, but not ultra-rare conditions, ensuring a sufficient patient population to allow for recruitment and statistical powering of prospective clinical trials
  • A rigorous validation of the target to determine if a small molecule approach to correcting or significantly modifying the disease is both safe and feasible in newborn to elderly patients

Today, our focus is on hemolytic anemias. People living with hemolytic anemias are at risk of both acute symptoms and long-term complications, and the disorders may significantly impact their quality of life and daily functioning. We specifically serve people with the following hemolytic anemias:

Pyruvate Kinase Deficiency

Pyruvate kinase (PK) deficiency is a rare disease caused by an inherited mutation in the PKLR gene, which can cause a deficit in energy within red blood cells.

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Thalassemia

Thalassemia is an inherited blood disorder caused by mutations in either alpha- or beta-globin genes. As a result, the body is not able to make enough hemoglobin, an important part of red blood cells.

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Sickle Cell Disease

Although a rare disease in the U.S. and EU, sickle cell disease is one of the most common genetic disorders in the world. It is caused by inherited mutations in the beta-globin gene, leading to sickle-shaped red blood cells that slow or stop the flow of blood.

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Activating a critical pathway

We are changing the way genetically defined diseases are viewed and treated. Building on our pioneering leadership in cellular metabolism, we may be able to address a broad range of hemolytic anemias to develop life-changing therapies for patients.

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We’re looking for energetic colleagues to fuel our mission of creating life-changing therapies for patients with genetically defined diseases. Join us!