Eli Lilly and Company

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a fast-growing cancer of the bone marrow in which immature white blood cells called blasts crowd out normal blood cells, causing fatigue, infections and bleeding...

How common: The National Cancer Institute's SEER program estimates 22,720 new US cases and 11,500 deaths in 2026, about 1.1% of new cancers, and 83,311 people were living with AML in 2023

Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease destroying motor neurons in the brain and spinal cord.

How common: About 5,000 new cases per year in the U.S.; CDC's National ALS Registry estimates about 33,000 Americans were living with ALS in 2022, a number projected to pass 36,000 by 2030

Bullous Pemphigoid

Bullous pemphigoid is an autoimmune blistering disorder caused by autoantibodies against basement membrane proteins, particularly BP180 and BP230.

How common: Approximately 2-23 per million people per year; incidence increases sharply with age

Cholangiocarcinoma

Cholangiocarcinoma is a rare and aggressive cancer that forms in the bile ducts, the thin tubes that carry digestive fluid (bile) from the liver to the small intestine.

How common: About 8,000 new cases per year in the U.S.; rising incidence worldwide

Cystic Fibrosis

Cystic fibrosis is an autosomal recessive genetic disorder affecting the CFTR protein, which normally regulates chloride transport.

How common: Nearly 40,000 children and adults in the U.S.; 1 in 2,500 to 3,500 births among Caucasians

Dermatomyositis

Dermatomyositis is a rare autoimmune inflammatory disease causing muscle weakness and distinctive skin rashes, particularly over joints.

How common: About 9.6 new cases per million people a year, according to NORD; juvenile-onset incidence about 0.4 cases per 100,000 children

Desmoplastic Small Round Cell Tumor

Desmoplastic small round cell tumor is a rare aggressive sarcoma characterized by EWSR1-WT1 fusion and dense desmoplasia.

How common: Fewer than 200 cases per year in the U.S.; occurs at any age but most common age 15-35

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is an X-linked genetic disorder causing progressive muscle weakness and degeneration, beginning in early childhood.

How common: 1 in 3,500 to 5,000 male births

Essential Thrombocythemia

Essential Thrombocythemia is a myeloproliferative neoplasm characterized by overproduction of platelets by bone marrow, resulting in very high platelet counts.

How common: About 1 new case per 100,000 people each year, with an estimated 30 to 60 per 100,000 living with it (NORD); average age at diagnosis is in the mid-fifties

Familial Medullary Thyroid Carcinoma

Familial medullary thyroid carcinoma is an autosomal dominant cancer predisposition syndrome caused by germline RET mutations.

How common: Near-complete penetrance by adulthood in RET mutation carriers (varies by specific codon mutation); comprises ~25% of medullary thyroid cancers

Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, arising from the interstitial cells of Cajal or their precursors.

How common: About 6,000 new cases per year in the U.S. (American Cancer Society); true incidence may be higher as small GISTs are often incidentally discovered

Gastroparesis

Gastroparesis is a condition in which the stomach empties food too slowly even though nothing is blocking it, causing early fullness, nausea, vomiting, bloating and upper belly pain.

How common: In a Minnesota population study cited by the NIDDK, about 10 men and 40 women per 100,000 had diagnosed gastroparesis

Gaucher Disease

Gaucher disease is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase, resulting in accumulation of fatty substances in the spleen, liver, and bone...

How common: 1 in 40,000 to 60,000 in general population; 1 in 850 among Ashkenazi Jewish population

Generalized Pustular Psoriasis

Generalized pustular psoriasis (GPP) is the rarest form of psoriasis and behaves like a different disease.

How common: Roughly 2 to 7 new cases per million people a year worldwide (NORD); published estimates range from 2 to 124 per million, lower in Europe and higher in parts of Asia; about half of people with GPP also have ordinary plaque psoriasis

Giant Cell Arteritis

Giant Cell Arteritis is a rare inflammatory disease of large and medium-sized arteries, primarily affecting people over 50.

How common: Approximately 10-20 cases per 100,000 people over age 50; incidence increasing with age, peak in 8th decade

Hemophilia A

Hemophilia A is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor VIII.

How common: 1 in 4,000 to 5,000 males worldwide; very rare in females

Hodgkin Lymphoma

Hodgkin lymphoma is a cancer of the lymphatic system characterized by the presence of abnormal Reed-Sternberg cells.

How common: About 8,920 new cases expected in the U.S. in 2026 (American Cancer Society); approximately 2.6 per 100,000 people

Huntington Disease

Huntington disease is an autosomal dominant neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin gene.

How common: About 3-7 per 100,000 people of European ancestry, according to MedlinePlus Genetics; less common in people of Japanese, Chinese and African descent

Hypoparathyroidism

Hypoparathyroidism is an endocrine disorder caused by insufficient production of parathyroid hormone (PTH), resulting in chronically low calcium and elevated phosphorus levels in the blood.

How common: Approximately 22 per 100,000 for postsurgical forms; estimated 70,000 to 77,000 people living with chronic hypoparathyroidism in the United States

Immune Thrombocytopenia

Immune thrombocytopenia (ITP) is a rare autoimmune disorder in which the immune system destroys platelets, the blood cells that stop bleeding, and slows their production.

How common: Estimated 9 to 20 per 100,000 people; children often have a temporary form that resolves within months

Mantle Cell Lymphoma

Mantle cell lymphoma is a rare type of non-Hodgkin lymphoma that starts in B cells, a kind of white blood cell.

How common: About 1 in 200,000 people (Cleveland Clinic)

Medullary Thyroid Cancer

Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor arising from the parafollicular C cells of the thyroid gland, accounting for 2-4% of all thyroid cancers.

How common: Approximately 1,000-1,200 new cases per year in the U.S.; 2-4% of all thyroid cancers

Mesothelioma

Mesothelioma is a rare, aggressive cancer that develops in the mesothelium, the thin layer of tissue covering most internal organs.

How common: About 3,000 new cases per year in the U.S

Multiple Myeloma

Multiple myeloma is a cancer of plasma cells, the white blood cells that make antibodies.

How common: About 36,000 new US diagnoses expected in 2026 and roughly 203,000 people living with it, which puts myeloma right at the edge of the US rare disease threshold; it is 1.7% of all new cancers (NCI SEER)

Multiple Sclerosis

Multiple sclerosis is a chronic autoimmune disease where the immune system attacks the protective myelin sheath surrounding nerve fibers in the brain and spinal cord.

How common: Approximately 1 million people in the U.S.; about 1 in 300

Myelodysplastic Syndromes

Myelodysplastic syndromes are a group of blood cancers in which the bone marrow fails to produce enough healthy blood cells.

How common: 10,000 to 15,000 new cases annually in the U.S.; estimated 60,000 to 170,000 Americans living with MDS

Myelofibrosis

Myelofibrosis is a myeloproliferative neoplasm in which bone marrow develops scarring (fibrosis), leading to anemia, enlarged spleen, and abnormal blood cell counts.

How common: Approximately 0.5-1.5 cases per 100,000 people; median age of diagnosis is 65 years

Neuroendocrine Tumors

Neuroendocrine tumors (NETs) grow from hormone-making cells, most often in the small intestine, pancreas, rectum or lungs.

How common: About 244,000 people in the US were living with a neuroendocrine neoplasm, the wider group that includes NETs, in 2021, with about 8.5 new diagnoses per 100,000 people a year (Dasari et al., JAMA Network Open 2025); an earlier estimate for NETs alone was about 171,000 in 2014 (JAMA Oncology 2017)

Osteogenesis Imperfecta

Osteogenesis imperfecta is a genetic disorder affecting type I collagen synthesis or structure, causing bones to break easily with little or no apparent trauma.

How common: 1 in 10,000 to 1 in 20,000 people

Paraganglioma

Paragangliomas are rare neuroendocrine tumors arising from chromaffin tissue outside the adrenal medulla.

How common: 1 in 300,000 to 1,000,000; ~30% are hereditary

Polycystic Kidney Disease

Polycystic Kidney Disease is a genetic disorder characterized by the growth of thousands of cysts in the kidneys, gradually replacing normal kidney tissue and leading to kidney failure.

How common: Autosomal dominant PKD affects about 1 in 400 to 1,000 people worldwide and the recessive form about 1 in 20,000 children; about 500,000 people in the United States have PKD (NIDDK)

Polycythemia Vera

Polycythemia Vera is a myeloproliferative neoplasm in which bone marrow produces too many red blood cells, leading to thick blood that carries oxygen less effectively and increases clot risk.

How common: About 44 to 57 per 100,000 people in the US, from 2 large health plans in 2008 to 2010 (Mehta et al., Leukemia and Lymphoma 2014); median age of diagnosis is 65 years

Primary Biliary Cholangitis

Primary Biliary Cholangitis (PBC) is a chronic autoimmune liver disease in which the immune system mistakenly attacks the small bile ducts in the liver, leading to bile duct destruction and...

How common: About 14.6 per 100,000 people worldwide in a 2021 pooled analysis of 47 population studies, highest in North America (21.8 per 100,000) and lowest in the Asia-Pacific region (9.8 per 100,000)

Pulmonary Arterial Hypertension

Pulmonary arterial hypertension is a rare disease characterized by abnormally high blood pressure in the pulmonary arteries, causing progressive heart and lung damage.

How common: About 26 to 52 per million people in a Scottish national study, with about 7 new cases per million people each year (Peacock et al., European Respiratory Journal, 2007)

RET Fusion Cancer

RET fusion cancers are a group of rare tumors driven by chromosomal rearrangements that fuse the RET gene with a partner gene, creating an abnormal protein that drives uncontrolled cell growth.

How common: RET fusions occur in 1-2% of non-small cell lung cancers (roughly 2,300-4,600 new cases per year in the U.S.), 7-12% of papillary thyroid cancers (higher in pediatric cases), and rarely in other tumor types

Sarcoidosis

Sarcoidosis is an inflammatory disease characterized by formation of granulomas (clusters of immune cells) in multiple organs, most commonly the lungs and lymph nodes.

How common: An estimated 150,000 to 200,000 people in the United States, about 60 per 100,000, with rates that vary by ethnicity and geography (NORD)

Short Bowel Syndrome

Short Bowel Syndrome is a rare condition resulting from surgical removal or congenital absence of a significant portion of the small intestine, leading to malabsorption, diarrhea, and nutritional...

How common: Estimated 40,000-50,000 people in the United States; incidence 3-5 cases per million per year

Sickle Cell Disease

Sickle cell disease is an inherited blood disorder where hemoglobin polymerizes under low oxygen, causing red blood cells to become rigid, sickle-shaped, and prone to hemolysis and vaso-occlusion.

How common: About 100,000 Americans with SCD; about 1 in 365 Black or African American births and 1 in 16,300 Hispanic American births

Sjögren's Syndrome

Sjögren's syndrome is a chronic autoimmune disorder in which the immune system attacks the moisture-producing exocrine glands, primarily the salivary and lacrimal (tear) glands.

How common: Estimated 1 to 4 million Americans (including undiagnosed); approximately 1 in 1,000 adults based on physician-diagnosed prevalence

Systemic Juvenile Idiopathic Arthritis

Systemic juvenile idiopathic arthritis is a severe autoinflammatory disease characterized by daily spiking fevers, a salmon-pink rash, and joint inflammation.

How common: Accounts for 10-20% of all juvenile idiopathic arthritis cases; estimated 1 in 32,000 children in the U.S

Systemic Sclerosis

Systemic sclerosis (scleroderma) is a rare autoimmune disease in which the immune system triggers scarring (fibrosis) of the skin and internal organs while also damaging small blood vessels.

How common: About 276 per million U.S. adults in a large Detroit-area study; about 19 new cases per million adults each year

Turner Syndrome

Turner syndrome results from complete or partial absence of an X chromosome in females, causing short stature, gonadal dysgenesis, cardiac and renal abnormalities.

How common: 1 in 2,000 to 3,000 live female births

Waldenström Macroglobulinemia

Waldenström Macroglobulinemia is a rare blood cancer in which malignant B-lymphocytes produce excessive amounts of a protein called macroglobulin (immunoglobulin M or IgM).

How common: Approximately 1,500 new cases per year in the United States; median age of diagnosis is 68 years