The project will merge human genomic, microbiome, and social network data to examine important relationships among our own genes, the organisms living in our bodies, and our social connections to one another. In addition, conducting this study within an existing research project will enable further inquiry into how these phenomena are related to the socioeconomic and health data of thousands of people within a social network in rural Honduras.
Coding variants in the triggering receptor expressed on myeloid cells 2 (TREM2) are associated with late-onset Alzheimer’s disease (AD). We demonstrate that amyloid plaque seeding is increased in the absence of functional Trem2. Increased seeding is accompanied by decreased microglial clustering around newly seeded plaques and reduced plaque-associated apolipoprotein E (ApoE). Reduced ApoE deposition in plaques is also observed in brains of AD patients carrying TREM2 coding variants. Proteomic analyses and microglia depletion experiments revealed microglia as one origin of plaque-associated ApoE. Longitudinal amyloid small animal positron emission tomography demonstrates accelerated amyloidogenesis in Trem2 loss-of-function mutants at early stages, which progressed at a lower rate with aging. These findings suggest that in the absence of functional Trem2, early amyloidogenesis is accelerated due to reduced phagocytic clearance of amyloid seeds despite reduced plaque-associated ApoE.
Blood from young adults is being trialled as a treatment for Parkinson’s disease by a firm that wants to use the therapy to target neurodegenerative conditions.
Alkahest, a firm co-founded by Tony Wyss-Coray of Stanford University, California, has already tested blood-based treatments in people with Alzheimer’s disease. In the latest trial, 90 people with Parkinson’s – mostly in their 70s and 80s – will receive injections five days in a row, and then again three months later.
2018 was a banner year for discoveries about our species’s evolution and extinct relatives like the Neanderthals. Here are the biggest finds, sorted according to how they fit into our evolutionary story.
The Little Foot skeleton may be an unrecognised species
Little Foot is a near-complete skeleton of an Australopithecus, a kind of hominin that lived in Africa between 2 and 4 million years ago. Ronald Clarke of the University of the Witwatersrand in Johannesburg, South Africa found the skeleton in Sterkfontein cave in the 1990s and has spent 20 years meticulously excavating it. The first detailed analyses finally came out in late November. Little Foot was an elderly female who seems to have sustained an arm injury in her youth. She ate an almost entirely vegetarian diet.
Doctors have long observed that biological age and chronological age are not always one and the same. A 55-year-old may exhibit many signs of old age and have numerous age-related diseases, whereas an 80-year-old may be healthy and robust. While diet, physical activity and other factors play a role, there are many contributors as to why and how some people age better than others. Those contributors remain poorly understood.
For a study published December 19, 2018 in Genome Biology, a collaborative team at the Salk Institute analyzed skin cells ranging from the very young to the very old and looked for molecular signatures that can be predictive of age. Developing a better understanding of the biological processes of aging could eventually help to address health conditions that are more common in old age, such as heart disease and dementia.
“This experiment was designed to determine whether there are molecular signatures of aging across the entire range of the human life span,” says co-senior author Saket Navlakha, an assistant professor in Salk’s Integrative Biology Laboratory. “We want to develop algorithms that can predict healthy aging and nonhealthy aging, and try to find the differences.”
“The study provides a foundation for quantitatively addressing unresolved questions in human aging, such as the rate of aging during times of stress,” says Professor Martin Hetzer, co-senior author, as well as Salk’s vice president and chief science officer.
In China, the first genetically modified babies are said to have seen the light of day. This once-taboo act shows how far genetic engineering can revolutionize life on the planet. Swiss radio and television company SRF’s Wolfram Eilenberger interviewed NOMIS awardee and paleogeneticist Svante Pääbo and bioethicist Effy Vayena in the Sternstunde Philosophie (Great moments in philosophy) program “Tatort Genom: Vom Neandertaler zum Übermenschen?” (“Genome crime scene: from Neandertal to superhumans?”).
No field of knowledge has achieved greater progress in recent decades than human genetics. The questions involved are at the heart of our way of life: Which genes are specific to humans? How much Neandertal is still in us? Which forms of diagnosis and healing promise new techniques and intervention options? Are we on the cusp of a new, genetically optimized superhuman? Together with Vayena and Pääbo, Eilenberger discusses the limits, dangers and utopian possibilities of human genetics. The program is presented in German.
Pääbo is director of the Department of Evolutionary Genetics at the Max Planck Institute in Leipzig, Germany and recipient of the 2017 NOMIS Distinguished Scientist Award. He is one of the founders of paleogenetics and became best known for his pioneering research on the Neandertal genome. Pääbo is investigating the genetic differences and functional consequences that occurred at the split between the modern human and their archaic human ancestors about half a million years ago.