Select one of our areas of focus below to learn more
Genomically defined cancers
Cancer is a disease caused by alterations in genes that control the way cells function, especially how they grow and divide. These genetic alterations can cause cells to evade normal growth controls and become cancer. Often, cancer-causing alterations occur in genes that encode kinases, which are enzymes that regulate the biological function of other proteins via phosphorylation. Blueprint Medicines identifies these genes so we can work to develop drugs to target them.
Examples of targetable tumor gene alterations include:
small changes, deletions or insertions in a gene’s sequence that can change the function of a protein
parts of two genes that fuse together to form a hybrid gene that functions inappropriately
increases in the number of copies of a gene, resulting in overexpression of the gene’s encoded protein
Acquired Resistance Mutations
genetic alterations that emerge during treatment, causing the cancer to become resistant to therapy
KIT and PDGFRA
KIT and PDGFRA are homologous tyrosine kinase receptors. In patients with gastrointestinal stromal tumors (GIST) and certain other malignancies, a spectrum of clinically relevant mutations force the KIT or PDGFRA protein kinase into an increasingly active state, resulting in tumor formation and growth. Additionally, in patients with KIT-driven GIST who are heavily pretreated, resistance mutations accumulate more frequently.
Learn more about a KIT and PDGFRA inhibitor in clinical development
Across a range of cancers, including non-small cell lung cancer, medullary thyroid cancer and papillary thyroid cancer, oncogenic alterations in RET, a tyrosine kinase receptor, cause ligand-independent kinase activation, driving tumor formation and growth. The two primary mechanisms of oncogenic RET activation are fusions and activating mutations. In addition, acquired RET resistance mutations have been observed with currently approved multi-kinase inhibitors.Learn more about a RET inhibitor in clinical development
FGFR4 is a tyrosine kinase receptor that promotes the proliferation of liver cells and regulates bile acid homeostasis in the liver, activated by FGF19, a tightly controlled hormone. In approximately 30% of patients with hepatocellular carcinoma (the most common form of liver cancer), the FGF19 gene is altered to abnormally overexpress the FGF19 hormone, driving aberrantly activated FGFR4 signaling and thus tumor cell growth.Learn more about an FGFR4 inhibitor in clinical development
In the United States, a rare disease is defined as a condition that affects less than 200,000 people. Scientists believe there are more than 7,000 rare diseases, and most have few or no effective treatments. Rare diseases are often caused by genetic alterations, which may either occur randomly or be hereditary. Certain rare diseases are caused by changes in genes that encode kinases, enzymes that regulate the biological function of other proteins.
KIT is a mast/stem cell growth factor receptor. Approximately 90-95% of patients with systemic mastocytosis have the KIT D816V mutation, leading to increased proliferation and survival of mast cells. Accumulation of mast cells in the body causes often severe constitutional symptoms and, in advanced cases, organ damage leading to reduced survival.Learn more about a KIT inhibitor in clinical development
ALK2 is a tyrosine kinase receptor encoded by the ACVR1 gene and is implicated in fibrodysplasia ossificans progressiva (FOP), a rare genetic bone disease. In healthy people, ALK2 is believed to play an important role in the bone morphogenic protein pathway during prenatal development. In patients with FOP, mutations in the ACVR1 gene cause the ALK2 receptor to be continually activated, leading to overgrowth of bone and fusion of joints.
In October 2019, we entered into an exclusive, worldwide license agreement with Clementia Pharmaceuticals, a subsidiary of Ipsen, to develop and commercialize BLU-782.Learn more about an ALK2 inhibitor in clinical development
Cancer immunotherapy is a field of medicine that seeks to harness the body’s immune system to fight cancer. Currently available cancer immunotherapies have demonstrated important improvements, yet most patients still do not sufficiently benefit from treatment. Immunokinases are intracellular kinases that regulate various aspects of immune response. Targeting immunokinases with orally administered small-molecule inhibitors represents a new approach to cancer immunotherapy.
Cancer immunotherapy collaboration with Roche
In March 2016, we initiated a strategic collaboration with Roche for the discovery, development and commercialization of small-molecule therapies targeting kinases believed to be important in cancer immunotherapy.Learn more about our cancer immunotherapy collaboration with Roche