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Hakon Hakonarson, MD, PhD

Center for Applied Genomics

The Joseph Stokes Jr. Research Institute, Room 1216E
The Children's Hospital of Philadelphia
3615 Civic Center Blvd.
Philadelphia, PA 19104

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My research interest focuses on human genetics. I am working to identify genetic variants that underlie autism spectrum and other complex medical disorders. Gaining a better understanding of these genetic variabilities can help identify the causes and presence of these disorders as early as possible and to provide more focused treatment.

With over ten years of experience in pioneering genomic research and genome-wide mapping and association studies, I have an intimate knowledge of the complexities of large-scale genomics projects, and I have developed the necessary infrastructure and workflow processes to unravel these complexities in my role as the director of the Center for Applied Genomics (CAG) at Children's Hospital.

Recently CAG contributed an immense genotype dataset to the Autism Genetic Resource Exchange (AGRE). This large genetic dataset is now accessible to autism researchers worldwide. Within this large-scale project, CAG analyzed DNA blood samples of 4,500 individuals and compiled 550,000 genetic markers for each person. Studying patterns of variation in those genotypes will help researchers to discover and investigate multiple genes that may contribute to autism.

Sample of Significant Publications

Grant SFA, Li M, Bradfield JP, Kim CE, Annaiah K, Santa E, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Imielinski M, Eckert AW, Chiavacci RM, Berkowitz RI, Hakonarson H. Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP. PLoS One. 2008. 3(3): e1746.

Hakonarson H, Grant SFA, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu H, Polychronakos C. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature. 2007. 448: 591-594.

Hakonarson H, Qu H, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, Kirsch SE, Devoto M, Monos DS, Grant SFA, Polychronakos C. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes. 2008. 10(2337): db07-1305.

Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott R, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole K, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SFA, Li H, Hakonarson H. A genome-wide association study identifies a susceptibility locus to clinically aggressive neuroblastoma at 6p22. New England Journal of Medicine. 2008. 10(1056): NEJMoa0708698:358.

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