Open access
Peer reviewed
CC BY 4.0

Journal of Hereditary Diseases

A peer-reviewed, open-access journal for research on the causes, diagnosis, prevention and treatment of inherited disorders, from the gene variant to the family and the clinic.

Submit a manuscript Read the aims and scope

Or use the simple submission form. Authors must use only one submission route for the same manuscript.

Scope

What the journal publishes

JHD publishes research on inherited disorders and diseases, including their causes, diagnosis, prevention and treatment. Topics include:

Genetic disorders and hereditary diseases
Clinical and molecular description of inherited conditions, rare and common.
Molecular and human genetics
Genes, variants and mechanisms that underlie inherited disease.
Genetic markers
Markers and variants used to trace, predict or confirm inherited conditions.
Genetic testing, screening and counseling
Testing strategies, screening programs and the counseling of patients and families.
Genomic medicine and gene therapy
Genomic approaches to diagnosis and therapies that target inherited disease.
Pediatric genetics
Early detection and care of inherited conditions in infants and children.

The list is illustrative. Read the full aims and scope

Authors

Article types and how review works

Each article type is assessed by its own standards. Studies of patients and families report informed consent and ethics approval where these apply.

Article types

Original ResearchClinical, laboratory and genetic studies
ReviewEvidence synthesis on hereditary disorders
Systematic Review and Meta-AnalysisProtocol-based pooled analysis
Case Report or Case SeriesIncluding family studies of new variants
Brief CommunicationConcise genetic or diagnostic findings
Editorial or CommentaryPerspectives on research, practice or policy
Letter to the EditorResponses to published work

From submission to publication

Submit
Through ManuscriptZone or the simple submission form. Questions go to [email protected].
Peer review
Single-blind by default; double-blind review is available on request. Manuscripts that proceed to external peer review are normally evaluated by at least two independent subject-matter experts.
Publish
Accepted articles are published open access under the CC BY 4.0 license. The article processing charge applies only after acceptance; see Article Processing Charges.

Instructions for Authors

Editors

Editorial leadership

The Editor-in-Chief and Editorial Board oversee peer review and editorial decisions.

Editor-in-Chief

Yonghui Li

Director, Shenzhen University General Hospital, Shenzhen, Guangdong Province, China

Jaishree Paul

Jawaharlal Nehru University, India
Minoo Rassoulzadegan

University of Nice Sophia Antipolis, Genetic Laboratory of Normal and Pathological Development (Center of Biochemistry U616 INSERM) Nice., France
Rajinder Kaur

Assistant Professor , Baba Farid College, Bathinda, Punjab, India
Saeed ElAshram

Associate professor (Distinguished researcher)., China
Wenlin Zhang

Vision Science Postdoctoral Research Fellow, Cornea Genetics Laboratory, Jules Stein Eye Institute, UCLA, United States

View the full Editorial Board

Read the journal

All articles are free to read and download.

Publishing terms

Publisher: Open Access Pub
Open access: Free to read and reuse under the CC BY 4.0 license
Peer review: Single-blind by default; double-blind review is available on request
Fees: Article processing charge after acceptance only. Withdrawal after submission is subject to the journal's withdrawal policy. See the charges
Indexing: Access and metadata services are described on the Indexing page.
Contact: [email protected]