Broad Institute of MIT and Harvard

The health harms of excessive sedentary behavior are clearer, thanks to work by Ezim Ajufo , Patrick Ellinor, Shaan Khurshid, and colleagues. The researchers examined one week of activity-tracker data from nearly 90,000 UK Biobank participants and associated daily time spent sitting with future risk of atrial fibrillation, heart attack, heart failure, and death from cardiovascular causes. Sedentary behavior was associated with higher risk of all four conditions, and additional physical activity did not fully compensate for sedentary behavior’s cardiovascular impacts. The findings could help inform future public health efforts. Read more in JACC. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

Proteins in the blood and serum reflect both a person’s genetic makeup and their environmental exposures, and can therefore be potentially used to predict and modify disease risk. Art Schuermans, Ashley Pournamdari, M.D., Michael Honigberg, Pradeep Natarajan, and colleagues applied this approach to cardiovascular disease, analyzing the proteomes of about 45,000 UK Biobank participants and identifying 820 protein-disease associations. They then used Mendelian randomization to identify proteins that play a causal role in disease and could be therapeutics targets. Finally, they generated protein-based risk scores that improved cardiac disease prediction in the general population. Read more in Nature Cardiovascular Research. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

Retinitis pigmentosa is a genetic retinal disorder that leads to vision loss. Samuel Du, David R. Liu, Krzysztof Palczewski, and colleagues have developed an in vivo base-editing approach for a form of the disorder caused by an autosomal recessive E150K mutation in the rhodopsin gene. This mutation leads to the loss of rod photoreceptors in the retina. In PNAS, the team showed that subretinal injection of CRISPR-Cas9 adenine base editors corrected the mutation in a mouse model. Injection at postnatal day 15 (but not later) restored rhodopsin expression and partially rescued or preserved retinal function and structure. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

We are now accepting applications for the 2025 Broad Summer Scholars Program (BSSP), a six-week biomedical research experience for high school juniors in Massachusetts at the Broad Institute of MIT & Harvard. To access the application and review eligibility requirements, please visit: https://broad.io/bssp. Applications are due Janaury 22, 2025. #SummerPrograms #BroadInstitute #Science #STEM #STEMEd #STEMEducation

Collagens are fundamental structural elements of a wide variety of tissues and organs. They are generally heterotrimeric — consisting of two different procollagen peptides that assemble in threes — and the mechanisms controlling their proper assembly aren't fully understood. Kathryn Yammine, Rasia Li, Matthew Shoulders, and colleagues show both the critical C-Pro domain and amino acid sequences present at the C-terminal end of procollagens' triple-helical domain drive proper assembly. These C-terminal sequences help stabilize peptides as they come together, and help ensure that three of the same peptide are unable to associate with each other. Learn more in PNAS. https://lnkd.in/eqREaCjg #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

Congratulations to Kate Therapeutics co-founder Sharif Tabebordbar, a former Broad postdoc in Pardis Sabeti's lab!

One challenge in mining All of Us data for disease insights is accurately identifying affected individuals. Lukasz Szczerbinski MD, PhD, Ravi Mandla, Philip Schroeder, Josep M Mercader, Miriam Udler, MD, PhD, Alisa Manning, and colleagues developed new algorithms for identifying type 1 (T1D) and type 2 diabetes (T2D) cases and compared them to diabetes polygenic scores for individuals in the cohort. They validated their electronic health record (EHR)-based T1D algorithm, and showed that their EHR and survey data-based T2D algorithm improved upon the biobank’s existing definition of the disease. These freely available algorithms can help standardize diabetes research. Read more in Scientific Reports. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

We are thrilled to share news about a publication collection in Nature Portfolio and associated journals. The 40+ peer reviewed Human Cell Atlas papers cover human development, organ specific integrations, analytical methods, ethics and equity.? See the Nature collection Landing page: https://lnkd.in/eCNeb7-Y The collection marks significant progress in our understanding of the human body. They also provide a foundation towards the first draft Human Cell Atlas which is being created by 18 HCA Biological Networks. Draft Lung, Brain and Retina HCA Atlases have already been created, and are on the HCA Data Portal, with more to come. Link to HCA Data Portal: https://lnkd.in/eppKiQsZ The Atlas will have far-reaching implications for medicine and will equip healthcare professionals and drug developers with a high resolution view of a healthy human body and how it is impacted by disease. The Collection is a huge milestone and we could not have reached this point without the contributions of thousands of experts and the incredible support of funders. Learn more here https://lnkd.in/eycRBtX5? #HCA2024NatureCollection? #HumanCellAtlas

Congratulations to the universities and colleges that are creating the conditions needed for boundary-breaking science! The Interdisciplinary Science Ranking, released today by Times Higher Education and Schmidt Science Fellows, includes a surprising mix of institutions—old and new, Western and Eastern—that are prioritizing a new way to teach and conduct science. Eric Lander of Broad Institute of MIT and Harvard and I discuss the power of interdisciplinary science to address the challenges of the future—and what we can do today to prepare. https://lnkd.in/gERZA-72

Gliomas, the most common brain tumors, often transition from slow-growing, low-grade tumors to fast, aggressive, high-grade forms. But how does this happen? A new study from JINGYI WU, L. Nicolas Gonzalez Castro, Bradley Bernstein and colleagues sheds light on this deadly shift. They found that these tumors, often initiated by IDH mutations, gain additional cancer-driving mutations over time, leading to more aggressive growth. This process also involves a change in the tumor's cellular identity. These insights underscore the importance of early detection and points to promising directions for future therapies. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch #Cancer #CancerResearch