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Featured article: Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Lateral view of the peripheral nervous system of two zebrafish embryos​​​​​​​Spataro et al. present the genetic profile of two patients with juvenile-onset ALS. They performed whole-exome sequencing, identifying candidate pathogenic mutations, and found that only ATP13A2 was found to harbor recessive changes associated with juvenile-onset ALS. They then used a zebrafish model to confirm the role of this gene in central and peripheral nervous system maintenance, corroborating the damaging direction of effect of the change detected. This expands the phenotypic spectrum associated with variants of this gene, which is associated with other neurodegenerative disorders, to also include juvenile-onset ALS. Their findings highlight the importance of establishing a complete genetic profile in order to obtain an accurate clinical diagnosis.


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HGNC updates

Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.

Previous content

Human Genomics launched with BioMed Central in July 2012, transferring from its previous publisher Henry Stewart Publications. All back content is now available in the archive.

Aims and scope

Human Genomics is a peer-reviewed, open access journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.

Call for Papers: Public Health Genomics

Guest Editors: George P Patrinos, University of Patras, Greece; Hongyu Zhao, Yale University, USA

Papers are invited which address current issues in human public health genomics, such as genomic surveillance of disease, genetic risk prediction, individual genome interpretation, gene-environment interactions, genetic diversity of vector-borne disease, vaccination and vaccine-based approaches against pathogens data sharing, economic evaluation in genomic medicine, and the role of big data and artificial intelligence on the development of translational tools and services and the overall future of public health.

Submission Deadline: March 2020

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