Examples of active/available projects

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Genetics/computational biology/metabolomics

• Large (N>5 million), ancestrally diverse GWAS of BMI and height

• Expand studies of BMI and height to lower frequency variants and sequence data

• Prioritize genes from GWAS using genetic, computational, wet-lab methods

• Explore different models of gene-gene interaction in height and BMI

• Impact of “pathogenic” variants in ”healthy” individuals

• Genetics of hypermobile Ehlers-Danlos syndrome (1000 whole genome sequences)

• Genetics of diabetic kidney disease (large, ancestrally diverse GWAS)

• Use causal inference to identify causal metabolites and unknown signals for BMI and cardiometabolic traits

• Identify metabolomic signatures of dietary patterns

 

Functional genomics/wet lab

• Use in vitro and in vivo models & scRNA data to identify mechanistic targets/sites of action of topiramate (with Mary Frances Lopez)

• Use models of chondrocyte differentiation to prioritize and decipher mechanism for skeletal growth genes (with Nora Renthal)

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Selected recent lab publications and preprints

(additional selected publications are here)

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Bartell E, Lin K, Tsuo K, Gan W, Vedantam S, Cole JB, Baronas JM, Yengo L, Marouli E, Amariuta T, Chen Z, Li L; GIANT consortium; China Kadoorie Biobank Collaborative Group; Renthal NE, Jacobsen CM, Salem RM, Walters RG, Hirschhorn JN. Genetics of skeletal proportions in two different populations. bioRxiv. 2023. PMC10245876 (S)

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Baronas JM, Bartell E, Eliasen A, Doench JG, Yengo L, Vedantam S, Marouli E; GIANT Consortium; Kronenberg HM, Hirschhorn JN, Renthal NE. Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci. Cell Genom. 2023;3(5):100299. PMC10203046 (A)

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Yengo L+, Vedantam S+, Marouli E+, … (many additional authors), Okada Y*, Wood AR*, Visscher PM*, Hirschhorn JN*. A Saturated Map of Common Genetic Variants Associated with Human Height. Nature 2022;610:704-712. PMC9881884 (A)

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Wang Q, Li H, Tajima K, Verkerke ARP, Taxin ZH, Hou Z, Cole JB, Li F, Wong J, Abe I, Pradhan RN, Yamamuro T, Yoneshiro T, Hirschhorn JN, Kajimura S. Post-translational control of beige fat biogenesis by PRDM16 stabilization. Nature 2022;609(7925):151-158. PMC9433319

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Zhu J, Eliasen AU, Aris IM, Stinson SE, Holm JC, Hansen T, Hivert MF, Bønnelykke K, Salem RM, Hirschhorn JN, Chan YM. Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2024;109(2):380-388. PMC10795915 (P)

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+,* contributed equally

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(S) = Student in the lab as first or co-first author

(P) = Postdoctoral fellow in the lab as first or co-first author

(A) = Analyst in the lab as first or co-first author