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Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification

A series of editorials and policy reports examining advances made in human genomic science are presented in this week's Science. In the first piece, Genentech's Jennifer Rood and Aviv Regev discuss the legacy of the Human Genome Project, how it has shaped scientific and clinical research and questions that it has left unanswered. Next, a team from the University of Maryland Carey School of Law describe a recently passed law in Maryland that regulates the use of consumer genetic data by law enforcement and how it may provide a roadmap for similar legislation in other states. Lastly, researchers in the US and abroad present four reviews looking at genomics in human health and history. The first examines efforts to characterize the molecular and cellular effects of genetic variants; the second discusses how scientists are understanding the role of polygenicity in common disease; the third covers initiatives to map the genomic and epigenomic factors involved in cancer; and the last focuses on how sequencing of ancient DNA is changing views of humans' evolutionary past.

A technique for the high-throughput single-cell quantification of hundreds of proteins using standard flow cytometry instrumentation is reported in Science Advances. Developed by a team led by Fred Hutchinson Cancer Research Center investigators, the method — called Infinity Flow — combines hundreds of overlapping flow cytometry panels with machine learning to enable the simultaneous analysis of the co-expression patterns of hundreds of surface-expressed proteins across millions of individual cells. "Infinity Flow enables broad phenotypic characterization of many cell subsets at the level of a whole organ" and represents "a highly scalable, low-cost, and accessible solution to single-cell proteomics in complex tissues," they write.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.