The drive to take discovery further
Our research focuses on distinct areas where we believe we can significantly advance medicine and improve patient outcomes. Across these areas, we combine a rich universe of kinase targets with profound scientific, clinical and commercial expertise.
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:
Point Mutations:
small changes, deletions or insertions in a gene’s sequence that can change the function of a protein
Gene Fusions:
parts of two genes that fuse together to form a hybrid gene that functions inappropriately
Gene Amplifications:
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
Our focus
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
RET
Oncogenic alterations in RET – a tyrosine kinase receptor – cause ligand-independent kinase activation, driving tumor formation and growth. RET alterations are implicated across a range of tumor types, including non-small cell lung cancer and thyroid cancer.
Learn more about a RET inhibitor in clinical development
EGFR
Among patients with non-small cell lung cancer, it is estimated that the EGFR mutation is present in approximately 22% of cases in the U.S., about 15% in Europe and about 40-50% in Asia. There is a significant need for new treatment options that address a spectrum of activating and on-target resistance mutations, and enable development of combination regimens, with the goal of prolonging patient benefit.
LEARN MORE ABOUT EGFR INHIBITORS IN CLINICAL DEVELOPMENT
CDK2
CDK2 and cyclin E (CCNE1) are central to regulating the cell cycle, which is involved in the process of cell growth and division. CDK2 is believed to play an important role in tumor proliferation for patients with hormone-receptor-positive, HER2-negative breast cancer. In subsets of patients with ovarian cancer and other tumor types, CCNE1 hyperactivates CDK2, resulting in cell cycle dysregulation and tumor growth.
Learn more about a CDK2 inhibitor in clinical developmentKinome illustrations reproduced courtesy of Cell Signaling Technology, Inc..
Rare diseases
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.
Our focus
KIT
KIT is a mast/stem cell growth factor receptor. Systemic mastocytosis is a rare disease driven in almost all cases by the KIT D816V mutation, leading to uncontrolled proliferation and activation of mast cells. As a result, patients experience chronic, severe and often unpredictable symptoms and in advanced cases, organ damage leading to poor survival.
Learn more about a KIT inhibitor in clinical development
ALK2
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 developmentKinome illustrations reproduced courtesy of Cell Signaling Technology, Inc..
Cancer immunotherapy
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.
Our focus
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 how we collaborate with RocheKinome illustrations reproduced courtesy of Cell Signaling Technology, Inc..