Feb. 27, 2017 ISB researchers and colleagues from several institutes published a new study today in Human Molecular Genetics. The key points of the study “High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington’s disease CAG knock-in mice across multiple genetic backgrounds” are: A multi-institute collaboration mapped in high resolution the earliest effects of the Huntington’s disease mutation in mice. The study included four different genetic…
Congratulations to Lena Joesch-Cohen (pictured above), who was one of ISB’s 2016 summer undergrad interns, just published a paper on the project she completed with Gustavo Glusman (Principal Scientist, Hood Lab). “Differences between the genomes of lymphoblastoid cell lines and blood-derived samples” was published on Feb. 23, 2017, in Dove Press. In a recommendation letter that Gustavo wrote to support Lena, he said this: “Lena is an outstanding scholar. Despite…
Chemical & Engineering News highlighted ISB’s recent publication (Identifying Organ-Specific Blood Biomarkers for Acute Liver Injury) in the Journal of Proteome Research. “For many years, clinicians have relied on assays for two enzymes, alanine aminotransferase (ALT) and aspartate aminotransferase (AST), to detect liver injury. These biomarkers have limitations, says Leroy Hood of the Institute for Systems Biology, such as a short half-life and a tendency to underreport damage in certain…
3 Bullets: ISB researchers and their collaborators studied a group of supercentenarians (110 years or older) to explore the genetics of ‘extreme longevity.’ The group performed whole-genome sequencing on 17 supercentenarians in order to look for any rare protein-altering variants associated with extreme longevity. While the researchers did not find a single cause for extreme longevity within this sample size, the genomic data is now available for future studies. By…
3 Bullets: Adams-Oliver syndrome (AOS) is a rare congenital disease characterized by scalp lesions and limb defects. Additional vascular abnormalities and heart defects can lead to early death in some patients. By analyzing twelve families affected with the disease, we identified causal mutations in a new disease gene, NOTCH1, in five families. NOTCH1 is likely to be the major cause of AOS. NOTCH1 codes for a transcription factor that governs…
In the Feb. 26, 2014, issue of Science Translational Medicine, Dr. Lee Hood and Dr. Nathan Price, of Institute for Systems Biology, deliver an editorial stating the vision of the 100K Wellness Project. The project will track health-related data types for 100K individuals longitudinally over the course of 20-30 or more years. "Unsustainable cost increases threaten the global health care system, and further progress is stymied more by societal than…
