The novel study showcases a cancer-like paradigm in cerebral cavernous malformations (CCMs), a poorly understood, yet aggressive disease
SOUTH SAN FRANCISCO, Calif., May 18, 2021 — Mission Bio, the life sciences company delivering single-cell resolution multi-omics tools to accelerate discoveries and improve time-to-market for new therapeutics, announced today a new peer-reviewed study published in Nature that demonstrates how its Tapestri Platform was used to help uncover the molecular mechanism of fast-growing cerebral cavernous malformations (CCMs). The study is a milestone for the disease area, demonstrating a cancer-like paradigm where multiple somatic mutations accumulate in the same cells. This study, led by teams from the University of Pennsylvania and Duke University School of Medicine, is also the first peer-reviewed paper to utilize the Tapestri Platform for single-nuclei analysis of solid tissue samples.
CCMs, also known as cavernous angiomas, best known as the disease that may have caused the death of track star Florence Griffith Joyner in 1998, is defined by clusters of large and irregular blood vessels that arise in the central nervous system. While nearly 25 percent of CCM patients never experience symptoms, many others develop strokes or seizures, creating a need to understand aggressive CCM pathogenesis — including whether targeted therapies could be used to treat CCM proactively ahead of aggressive symptoms.
The authors of the paper utilized Tapestri on flash-frozen CCM lesion tissue from the human brain to sequence the nuclei of each cell. Using single-nuclei sequencing, they determined that three key mutations (two in CCM genes and one in the PIK3CA gene, a gene commonly implicated in multiple types of cancer) co-occurred in the same cells. This finding suggests that aggressive CCM develops through a mechanism akin to cancer, where loss-of-function of the CCM genes and gain-of-function of PIK3CA synergize to drive excessive vascular growth.
“Single-nuclei DNA sequencing using Tapestri was central to our research, giving us a definitive view that the combination of these mutations occurring in the same cells drives aggressive CCM,” said senior author Douglas Marchuk, PhD, Professor of Molecular Genetics and Microbiology at Duke University. “Our findings give unprecedented insight into the pathogenesis of CCM and the potential for targeted therapies, analogous to the mechanisms and treatment paradigms in cancer. We are excited to apply the Tapestri Platform to other rare diseases and archived tissue and to use it to elucidate other genomic aberrations, like loss of heterozygosity.”
While Tapestri has been used in a number of published papers researching hematological cancers, this breakthrough discovery marks a new use case, demonstrating the utility of its single-cell sequencing solution for use on nuclei of solid tissue.
“As the Tapestri Platform is more widely adopted in life science research, we’re continually impressed by the way researchers are using it in innovative ways to unlock unknown biology,” said Yan Zhang, CEO of Mission Bio. “The findings of this Nature study help validate our belief that enabling DNA analysis at the single-nuclei level out of solid tissue is critical to the understanding of many diseases beyond cancer.”
To learn more about Mission Bio and how their Tapestri Platform is helping enhance cancer and rare disease research and unlock pathways to new treatments, visit missionbio.com.
About Mission Bio
Mission Bio is a life sciences company that accelerates discoveries and cures in oncology by equipping researchers with the tools they need to improve how we measure and predict our resistance and response to cancer therapies. Mission Bio’s multi-omics approach improves time-to-market for new therapeutics, including innovative cell and gene therapies that provide new pathways to health. Founded in 2014, Mission Bio has secured investment from Novo Growth, Cota Capital, Agilent Technologies, Mayfield Fund, and others.
The company’s Tapestri Platform gives researchers around the globe the power to interrogate every molecule in a cell together, providing a comprehensive understanding of activity from a single sample. Tapestri is the only commercialized multi-omics platform capable of analyzing DNA and protein simultaneously, from the same sample at single-cell resolution. The Tapestri Platform is being utilized by customers at leading research centers, pharmaceutical, and diagnostics companies around the world to develop treatments and eventually cures for cancer and other rare diseases. To learn more, visit missionbio.com.
Consort Partners for Mission Bio