Krienen et al. used single-nucleus RNA sequencing to profile RNA expression in 188,776 individual interneurons across homologous brain regions from three primates (human, macaque and marmoset), a rodent (mouse) and a weasel (ferret). They found that an interneuron type that was previously associated with the mouse hippocampus—the ‘ivy cell’, which […]
Loh et al. found 52 inherited, rare, large-effect coding or splice variants in 7 genes that were associated with greatly increased vulnerability to clonal hematopoiesis. Clonally expanded blood cells that contain somatic mutations (clonal hematopoiesis) are commonly acquired with age and increase the risk of blood cancer. These inherited variants led to specific, acquired mutations that set the stage for cancer. This work was published by Nature and covered by HMS news and the Broad Institute.
Using Sperm-seq, Bell et al. sequenced the genomes of 31,228 gametes from 20 sperm donors, identifying 813,122 crossovers, 787 aneuploid chromosomes, and unexpected genomic anomalies. Avery’s results can be incorporated with earlier studies into a unified model in which the variable physical compaction of meiotic chromosomes generates interindividual and cell-to-cell variation in meiotic phenotypes such as crossover frequency and placement. Her work was published by Nature and covered by HMS news and Genomeweb.
Our Arpiar Saunders has published his atlas of the mouse brain. Using single-cell sequencing, our lab unmasked the unique genetic signatures of more than 560 cell populations across nine brain regions. Here’s an article about the trials and tribulations of creating the study, as well as its implications for scientific research.
Giulio Genovese has published a follow-up article to his initial discovery of a common precancerous condition. In 2014, we described a common pre-cancerous state, involving the clonal amplification of blood cells with somatic mutations, that is readily detected by DNA sequencing, is increasingly common as people age, and is associated with increased risk of blood cancer later in life. Now, we describe the inherited and acquired mutations that drive this precancerous condition. For more information, please check out: An HMS News article; A New York Times article on heart disease; A feature in Science; A Boston Globe article
Christina Usher was interviewed by the BBC for an upcoming special, “The Truth About Carbs”. The interview covered what we currently know about the amylase gene and its impact on metabolism. See Christina’s paper in Nature Genetics on amylase, from her Ph.D. work in the lab.
An article on the Science website describes Fenna’s research to map the brain – first cataloging long-range synaptic connections in the human brain (in Randy Buckner’s lab) and now analyzing the conservation of neuronal types and subtypes across species (in our lab).
The work of our Aswin Sekar et al. implicate excessive complement activity in the development of schizophrenia and may help explain the reduced numbers of synapses in the brains of individuals with schizophrenia. For more information, check out: An article in Harvard Magazine, featuring an image of C4 protein at synapses, which was taken by our Heather de Rivera; An article in the New Yorker; An article in the New York Times
Steve’s keynote talk at the 22nd Music Festival for Brain Health, on the human genome’s impact on brain health and illness.
Steve interviewed on the PBS News Hour on C4 and schizophrenia.
Our Evan Macosko has published his work on Drop-seq, a technology we developed to enable massively parallel analysis of RNA expression in thousands of individual cells. For additional information, please check out: A Cell video abstract; An article in the Atlantic; An article by NIH Director Francis Collins; An article by NIMH Director Tom Insel; An article Professor Samantha Morris
Amnon Koren has published three papers centered around his work on DNA replication timing. He described a new way to study DNA replication by using increasingly abundant whole genome sequence data, which he found contained signatures of DNA replication processes that were active in cells at the moment DNA was extracted from them. For more information, please check out: Amnon Koren’s papers (1 2 3); News and Views article by Jay Shendure in Cell; HMS video describing the discovery