JHG Young Scientist Award

The JHG Young Scientist Award recognizes articles that have made a significant contribution to the Journal of Human Genetics, thanks to their scientific excellence and impact in the field of human genetics.

Winners of the 2019 JHG Young Scientist Award

Ana S.A. Cohen

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

EED-associated overgrowth in a second male patient, J. Hum. Genet. 61, 831–834 (2016), doi:10.1038/jhg.2016.51.

Mariko Okubo

Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations, J. Hum. Genet. 61, 483–489 (2016), doi.10.1038/jhg.2016.7.

Winners of the 2018 JHG Young Scientist Award

Lasse Pihlstrøm

Department of Neurology, Oslo University Hospital, Oslo, Norway.

Fine mapping and resequencing of the PARK16 locus in Parkinson’s disease, J. Hum. Genet. 60, 357–362 (2015); doi:10.1038/jhg.2015.34

Ichiro Fukumoto

Department of Otorhinolaryngology, Tokyo Women’s Medical University Medical Center East.

Tumor-suppressive microRNAs (miR-26a/bmiR-29a/b/c and miR-218) concertedly suppressed metastasis-promoting LOXL2 in head and neck squamous cell carcinoma, J. Hum. Genet. 61, 109–118 (2016); doi:10.1038/jhg.2015.120









Winners of the 2017 JHG Young Scientist Award
Sara Mascheretti

Mohammad Arif Hossain

Sara Mascheretti, Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy. 

KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia, J. Hum. Genet. 59, 189–197 (2014); doi:10.1038/jhg.2013.141


Mohammad Arif Hossain, Researcher, Advanced Clinical Research Center, Southern Tohoku Research Institute for Neuroscience, Shin Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan.

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations, J. Hum. Genet. 60, 539–545 (2015); doi:10.1038/jhg.2015.61


Hiroko Mataki, Department of Pulmonary Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.

Downregulation of the microRNA-1/133a cluster enhances cancer cell migration and invasion in lung-squamous cell carcinoma via regulation of Coronin1CJ. Hum. Genet. 60, 53–61 (2015); doi:10.1038/jhg.2014.111

Winners of the 2016 JHG Young Scientist Award

Masaki Nishioka

Maiko Miyagawa

Meryanne K. Tumonggor

Masaki Nishioka, Division for Counseling and Support, The University of Tokyo, Tokyo, Japan.  

Comprehensive DNA methylation analysis of peripheral blood cells derived from patients with first-episode schizophrenia, J Hum Genet 58, 91–97 (2013); doi:10.1038/jhg.2012.140



Maiko Miyagawa, Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.  

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study, J Hum Genet 59, 262–268 (2014); doi:10.1038/jhg.2014.12

Meryanne K. Tumonggor, School of Anthropology, University of Arizona, Tucson, AZ, USA; Eijkman Institute for Molecular Biology, Jakarta, Indonesia

The Indonesian archipelago: an ancient genetic highway linking Asia and the Pacific, J Hum Genet 58, 165–173 (2013); doi:10.1038/jhg.2012.154