Single-cell DNA analysis identifies “battle of clones” in pediatric MDS patients whose cells may self-correct, in landmark international Nature Medicine study
SOUTH SAN FRANCISCO, October 7, 2021 — Mission Bio, the pioneer in high-throughput single-cell DNA and multi-omics analysis, today announced the publication of a study conducted via an international research collaboration, using its Tapestri Platform to explore the phenomenon of somatic genetic rescue (SGR) in pediatric patients with myelodysplastic syndromes (MDS). The study, published in the journal Nature Medicine, was led by Marcin Wlodarski, MD, Ph.D., at St. Jude Children’s Research Hospital and involved academics from dozens of institutions through the European Working Group of MDS in Childhood.
SGR is a rare spontaneous event in which a somatic mutation occurs in a given cell, sometimes offsetting the effect of a pathogenic germline mutation. Dr. Wlodarski and his collaborators investigated the role of SGR in children with MDS, a type of blood cancer in which the bone marrow fails to make sufficient healthy blood cells. Unlike adults who develop the disease, children may be prone to MDS if they are born with specific germline mutations in SAMD9 and SAMD9L. The reason for this vulnerability, however, was not well understood. With the use of bulk sequencing and single-cell analysis techniques, the researchers revealed that two-thirds of children with SAMD9/L mutations develop SGR events that keep the mutant genes from being expressed, including some that restore normal blood development. Importantly, these data reveal that pediatric patients carrying germline SAMD9/9L mutations can potentially self-correct without the need for an invasive bone marrow transplant.
“These latest findings reinforce the power of single-cell studies, enabled by Tapestri, to not just study diseases like MDS, but potentially change the course of treatment,” said Yan Zhang, CEO of Mission Bio. “It’s appropriate that this research was published on the heels of National Childhood Cancer Awareness month. We are excited that Tapestri is helping researchers unravel complex biology around childhood cancers and many other diseases, with clear examples of how the platform can impact patient outcomes.”
“Single-cell analysis made it possible to identify multiple rescue clones co-occurring in patients, including somatic genetic events that functioned as a form of natural gene therapy, revealing the full genetic complexity of these events,” says Sushree Sahoo, Ph.D., a postdoctoral researcher at St. Jude Children’s Research Hospital and first author on the paper. “It turns out that MDS patients with SAMD9 and SAMD9L mutations had a battleground of clones: different genetic events resulting in benign or high-risk leukemic alterations were competing for dominance in the blood system. If clinicians identify these clones in patients, they may choose to either postpone or delay bone marrow transplant, to see if the natural gene therapy wins out.”
To find out how single-cell analysis can unravel the mechanisms that drive disease correction and disease progression, visit missionbio.com.
About Mission Bio
Mission Bio is a life sciences company that accelerates discoveries and cures for a wide range of diseases by equipping researchers with the tools they need to better measure and predict our resistance and response to new 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 worldwide to develop treatments and eventually cures for cancer. To learn more, visit missionbio.com.
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