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Home Science Areas of Focus Rare Disease

There are over 7,000 known rare diseases that affect approximately 400 million people worldwide. 80% of these diseases have genetic origins and 50% affect children. Collectively, people living with a rare disease represent one of the largest underserved patient communities in the world, with only 5% of known rare diseases having one or more approved treatments.

At Pfizer, we believe that people living with a rare disease, along with the untold number of family members and caregivers who support them, deserve more. For more than thirty years, we have provided critical treatment options for patients with rare diseases. Our current portfolio spans four therapeutic areas, including 1) rare hematology, 2) rare endocrine/metabolic, 3) rare neurology and 4) rare cardiology. Now, we’re leading the way in an effort to deliver a new generation of breakthrough treatments across several modalities – small molecule, large molecule/monoclonal antibodies (mAbs), gene therapies and even devices – to potentially unlock the promise of science for the millions with rare diseases for whom the current standard of care falls short. Our deep pipeline has more than 10 investigational medicines in clinical development, with more than five new molecular entities and three gene therapy programs in Phase 3. And we have the end-to-end capabilities to not only discover and develop life-changing therapies, but, if successfully developed, deliver them to patients throughout the world. 

We bring deep scientific expertise and years of exploring medical frontiers. Our partners are some of the world’s leading research organizations. Together we are fulfilling our mission.

  • Gene Therapy

    Discovering a breakthrough in the lab is just the beginning. Next comes the challenging work of developing it into a life-transforming treatment for patients.

    Learn About Gene Therapy

  • Acromegaly

    Acromegaly is a chronic, rare disease associated with excess growth hormone secretion. It causes overgrowth of body tissues and, if untreated, can lead to secondary problems such as hypertension and heart failure.

    Failure to receive adequate medical treatment for this condition can reduce life expectancy by 10 years.

    Learn About Acromegaly


  • Duchenne Muscular Dystrophy

    Duchenne muscular dystrophy is a rare genetic disease that causes progressive loss of muscle tissue. It affects boys almost exclusively.

    Patients typically lose the ability to walk by the time they reach 12 years of age, and often die as a result of respiratory or cardiac failure.

    Before treatments were available, children with the disease typically lived into their early teens. But as a result of steroid use and supportive respiratory therapies, many patients now live well into their 20s.

    There is still much to be done to allow these patients to live a fuller life.

    Learn About Duchenne Muscular Dystrophy

  • Gaucher Disease

    Gaucher (go-SHAY) disease is a rare, inherited condition in which fatty deposits accumulate in critical organs and body systems, causing damage.

    The disease is caused by genetic mutations received from both parents.

    Learn About Gaucher Disease

  • Growth Hormone Deficiency

    Growth hormone deficiency (also known as dwarfism) is a growth disease associated with inadequate secretion of growth hormone from the pituitary gland, the "master gland" in the brain.

    Children with this disease have abnormally short stature with normal body proportions.

    Learn About Growth Hormone Deficiency

  • Hemophilia

    Hemophilia is a rare hematological (blood) disease that has been one of our key areas of focus for more than 30 years. Significant progress has been made in the treatment of hemophilia. 

    Prior to the 1960s, average life expectancy of a male with severe hemophilia was 12 years of age. 

    Today, hemophilia patients who receive treatment can expect to live relatively active and long lives.

    However, we believe more can be done to improve treatment for these patients and we are making progress with pioneering approaches to treat the full spectrum of the disease.

    Learn About Hemophilia

  • Sickle Cell Disease

    Sickle cell disease is a rare hematological condition that results in misshapen red blood cells, which can block the flow of blood through the body. (Sickle cell anemia is one of the conditions grouped under this disorder.) 

    Sickle cell disease can cause intense pain, as well as problems such as stroke, acute chest syndrome, joint damage, kidney issues, and occasionally heart problems.

    Learn About Sickle Cell Disease

  • Transthyretin Amyloidosis

    Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a rare but life-threatening condition that affects the heart and is associated with heart failure.

    ATTR-CM is characterized by the build-up of transthyretin amyloid in the heart, which causes the heart muscle to stiffen over time, eventually leading to heart failure.


    Symptoms of ATTR-CM often mimic those of other more common heart conditions, resulting in the disease being significantly underdiagnosed. Education, awareness, and treatment are critical to improving the diagnosis and care of people affected by ATTR-CM.

    Learn About Transthyretin Amyloidosis

  • Transthyretin Amyloid Polyneuropathy (ATTR-PN) is a rare, progressive, and fatal neurodegenerative disease, which causes an abnormal build-up of amyloid deposits in the peripheral and autonomic nerves, leading to symptoms such as numbness in the feet, dizziness or fainting, abnormal heartbeat, and unintentional weight loss.

    ATTR-PN can be difficult to recognize and manage. Misdiagnosis is common and definitive diagnosis can be delayed for years, postponing adequate treatment and genetic counseling, and leading to possible irreversible damage.

    Learn About Transthyretin Amyloid Polyneuropathy

With more than three decades of experience in rare diseases, our broad portfolio aims to address unmet medical needs across four main therapeutic areas: rare hematology, rare endocrine/metabolic, rare cardiology, and rare neurology.

Our Centers for Therapeutic Innovation collaborates with academic institutions and investigators to push forward great science, using the depth and breadth of the Pfizer enterprise to accelerate concepts into viable therapies with breakthrough potential for patients.

Find Out More About CTI

Revolutionary medicines have the power to enrich and extend life across many disease areas. Explore our latest innovations.

Rare Disease
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Explore all of our disease and condition-related resources to learn more about your diagnosis and treatment options. 

Gene Therapy
Duchenne Muscular Dystrophy 
Gaucher Disease
Growth Hormone Deficiency 
Sickle Cell 
Transthyretin Amyloidosis 

Internal Medicine
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We’re developing therapies to treat, slow, or prevent disease progression and improve the quality of life for patients with obesity, type 2 diabetes, and cardiovascular and kidney diseases. 

Inflammation & Immunology
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We look for treatments that provide more than just symptom relief, in order to address the root cause of chronic inflammatory diseases at a molecular level

View All Vaccines

Vaccines are the single most important innovation in the science of health to significantly reduce the threat of diseases that were once widespread and oftentimes fatal. 

Pipeline & Clinical Trials 

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Cancer treatment needs to be transformed across the entire landscape to significantly improve the lives of cancer patients worldwide.

Biology into medicine
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Anti-infectives are medicines that work to prevent or treat infections, including antibacterials, antivirals, antifungals, and antiparasitic medications. 

Antimicrobial Resistance 
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Our Commitment as a Global Leader 
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We strive to fundamentally transform what it means to live with a disease or condition.

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