- Our latest research on genetics and neurodegeneration with Zac Gerring and Eske Derks of QIMR Berghofer is out.
- Welcome to this term’s rotation students: Abigail Rich and Wanying Zhu of the Interdisciplinary Graduate Program in the Biomedical Sciences (IGP) and Xavier Bledsoe of the Medical Scientist Training Program (MSTP) at Vanderbilt University.
- Welcome to this term’s rotation students: Blyte Hospelhorn and Taylor Nagai of the Interdisciplinary Graduate Program in the Biomedical Sciences (IGP) (rotation 3 of 2019-2020 academic year) at Vanderbilt University.
- Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies is out in Nature Medicine as a “Focus” article. The study identified a new Mendelian syndrome, uncovering a novel mechanism for rare and common diseases. With knowledge derived from animal models, human common disease biobanks, and rare Mendelian disorders, we seek to accelerate the discovery of disease mechanisms.
- Check out this Reuters Health story about a new JAMA Psychiatry study on shared genetic factors between major psychiatric disorders and BMI.
- We are excited to design and teach the following graduate courses (Spring 2020) at Vanderbilt University:
IGP 8002: Integrating Genomics and Phenomics: Characterizing Disease Mechanisms
EPID 8332: Advanced Methods For Epidemiology
- Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences is out in Nature Ecology & Evolution. Read editorial by Yan SM & McCoy RC. Selected for F1000. Here, we present an approach for identifying divergent gene regulation between archaic hominins, such as Neanderthals, and anatomically modern humans and for exploring phenotypic differences between archaic groups from genetic data.
- Dr Gamazon has received an inaugural Genomic Innovator Award from the NIH.
- We are super thrilled to be paired with students in a Senior Design group in Vanderbilt University’s Department of Biomedical Engineering for our project “Developing a Machine Learning Framework for Data Integration in Genomics and Precision Medicine” (PIs: Eric Gamazon and Sandra Zinkel).
- Our recent paper on genetic mechanisms underlying neuropsychiatric disease (Nature Genetics 55, 933 (2019)) received coverage in Science (14 June 2019).
- Congratulations to Andries Marees for successful defense of his PhD thesis! The ceremony was held at the Agnietenkapel, built in the 1400’s and considered the birthplace of the University of Amsterdam.
“Marees heeft onderzocht wat de genetische basis is van middelengebruik/verslaving. Hij wilde achterhalen welke genetische varianten een rol spelen in de kwetsbaarheid om verslaafd te raken.“
- Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits is out in Nature Genetics.
- On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations is out in American Journal of Human Genetics. Read AJHG Editors’ Corner.
- GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish is out in the American Journal of Human Genetics as a Featured Article. Read AJHG Editors’ Corner, “An Eye on Big Data.” We integrated a novel computational method (applied to a biobank linked to electronic health records) and extensive functional studies in model-system loss-of-function models (using CRISPR-Cas9 gene editing strategies and morpholino oligonucleotide-based protein knockdown) to elucidate a link between vascular biology and eye disease.
- Bid maintains mitochondrial cristae structure and protects against cardiac disease in an integrative genomics study is out in eLIFE and was showcased in eLife Digest. We identified a homeostatic role for Bid in the regulation of mitochondrial structure and function with implications for human cardiac disease, combining cell biology and human genetic studies and observations in a model system. Bid-/- mice hearts have increased fibrotic damage after acute stress, similar to post-myocardial-infarction damage observed in human patients. Proteomics studies suggest a possible defect in mitochondrial respiratory chain function. Through immunoprecipitation, Bid binds the matrix form of Mcl-1 (previously implicated in cristae stability), which can be altered with helix-6 mutant M148T (nonsynonymous variation in Bid’s membrane binding domain).
- Dr Gamazon is now a Life Member of Clare Hall, a graduate college devoted to advanced studies within the University of Cambridge. Life Member designation allows him to return to the college at any time to participate in its intellectual life, facilitating his extensive research collaborations within the university.
- Dr Pat Evans is presenting our research in a platform presentation at the American Society of Human Genetics 2018 meeting in San Diego, CA.
- On the July cover of Diabetes is a micrograph showing cross-section of mouse gastrocnemius muscle stained for CD36 protein (red). Image courtesy of Dmitri Samovski. Our paper with Dmitri, “Regulation of Insulin Receptor Pathway and Glucose Metabolism by CD36 Signaling,” appears in this issue.
- Genetic effects on gene expression across human tissues is out in Nature.
- Our abstract has been accepted for a platform presentation at the American Society of Human Genetics 2017 Meeting in Orlando, Florida (Session #60: Transcriptomics in Complex Neurological/Neuropsychiatric Disease).
- Consistency in large pharmacogenomic studies is out in Nature.
- The genetic architecture of type 2 diabetes is out in Nature.
- Super excited about teaching for Advanced Gene Mapping Course 2016 at Rockefeller University.
- A gene-based association method for mapping traits using reference transcriptome data came out in Nature Genetics.
- The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans from the GTEx Consortium, of which I am a member, is finally out in Science.
- Structural Architecture of SNP Effects on Complex Traits came out in the American Journal of Human Genetics. Read AJHG Editors’ Corner.
- Cross-Tissue and Tissue-Specific eQTLs: Partitioning the Heritability of a Complex Trait came out in the American Journal of Human Genetics. Read AJHG Editors’ Corner.