Examples of active/available projects

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Genetics/computational biology/metabolomics

• Integrate large (N>5 million), ancestrally diverse GWAS of BMI and height, sequence data, and other data sets to prioritize likely causal genes and variants

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

• Explore what modifies the impact of “pathogenic” variants in apparently ”healthy” individuals in biobanks

• Test the potential clinical utility of polygenic variation in the diagnosis of short stature 

• Study the genetics of hypermobile Ehlers-Danlos syndrome (1000 whole genome sequences)

• Perform a large GWAS in adults and/or children of known metabolites and unknown signals from metabolomic data

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

• Identify metabolomic signatures of dietary patterns, including unknown signals

• Use data from multiple metabolomic platforms as a "Rosetta Stone" to match metabolites and unknown signals across platforms

 

Functional genomics/wet lab​

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

• Collaborate to generate or analyze data from neuronal or adipocyte models to prioritize and decipher mechanism for obesity genes

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Selected recent lab publications and preprints

(additional selected publications are here)

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Angelidi AM, Bartell E, Huang Y, Zeleznik OA, Estanyol-Torres N, Mi MY, Bhupathiraju SN, Kelly RS, Wittenbecher C, Lasky-Su J, Clish CB, Ludwig DS, Ebbeling CB, Hirschhorn JN. Weight-independent effects of dietary carbohydrate-to-fat ratio on metabolomic profiles: secondary outcomes of a 5-month randomized controlled feeding trial. Nat Commun. 2026;17:1662.  PMC12909889 (P) 

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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. Am J Hum Genet. 2026;133:794-808. PMC13087470 (S)

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Cole JB, Dahlström EH, Fermin D, Gupta Y, Hill C, Smyth LJ, Liu H, Kreienkamp RJ, Pezzolesi MG, Cao JJ, Valo E, Chen WM, Onengut-Gumuscu S, Rich SS, Brennan EP, Andrews D, Kennedy C, Gu HF, Stechemesser L, Weitgasser R, Sokolovska J, Radzeviciene L, Verkauskiene R, Panduru NM, Rossing P, Ahluwalia TS, Zerbini G, Marre M, Hadjadj S, Costacou T, Miller RG, Klein BE, Lee KE, Snell-Bergeon JK, Caramori ML, Mauer M, Brismar K, Bjornstad P, McKnight AJ, McKay G, Nair V, Salem RM, Groop PH, Godson C, Susztak K, Kretzler M, Maxwell AP, Krolewski A, Paterson A, Sandholm-Lafferre N, Florez JC, Hirschhorn JN. J Am Soc Nephrol. 2025;36:1939-1953. PMC12499614 (P)

 

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;109:380-388. PMC10795915 (P)

 

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;3:100299. 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;609:151-158. PMC9433319

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+,* contributed equally

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(S) = Current or former student in the lab as first or co-first author

(P) = Current of former postdoctoral fellow in the lab as first or co-first author

(A) = Current or former analyst in the lab as first or co-first author