Call for Papers: Journal of Hereditary Diseases
JHD welcomes high impact studies that improve understanding, diagnosis, and management of inherited disorders.
Research Priorities in Hereditary Medicine
We publish scientifically rigorous work that advances hereditary disease prevention, diagnosis, and treatment.
JHD invites submissions from clinical genetics, molecular diagnostics, genomics, rare disease epidemiology, translational medicine, bioinformatics, and health policy related to inherited disorders. We prioritize studies that connect laboratory evidence with clinical decision pathways and measurable patient impact.
Strong manuscripts define a clear hereditary mechanism, describe robust methods, and explain how findings improve disease classification, variant interpretation, counseling, or therapeutic strategy. Interdisciplinary projects linking genetic data to phenotype, natural history, and treatment outcomes are particularly encouraged.
Authors should position their work in the context of clinical utility and reproducibility. Studies with transparent datasets, validated workflows, and explicit limitations move through review more effectively and provide stronger value to readers.
Topics We Are Actively Seeking
The journal is currently prioritizing submissions in high-need hereditary research areas.
Genomic Diagnostics
Variant discovery, interpretation frameworks, and sequencing strategies for inherited conditions.
Rare Disease Mechanisms
Pathophysiology studies that clarify disease pathways and genotype-phenotype links.
Targeted Therapies
Gene therapy, precision medicine, and response biomarkers in hereditary disorders.
Population Genetics
Carrier screening, founder effects, and hereditary risk mapping across populations.
Formats Accepted by JHD
Select the format that best matches your scientific contribution and evidence depth.
JHD considers original research, systematic reviews, meta analyses, case series, short communications, methodological reports, and invited perspectives. For diagnostic manuscripts, include sensitivity and specificity where relevant, along with validation context and reference standards.
Case reports and small cohorts should clearly state novelty and clinical implications for inherited disease practice. Reviews should define inclusion criteria and methodological quality assessment. Methods papers should provide implementation details that allow replication in independent settings.
What Editors and Reviewers Evaluate
Scientific reliability and translational relevance drive editorial decisions.
Initial Editorial Check
Scope fit, ethical compliance, and manuscript completeness are verified.
Expert Peer Review
Domain specialists evaluate methodology, interpretation quality, and evidence strength.
Decision and Revision
Authors receive targeted feedback to strengthen clarity and robustness.
Publication and Indexing
Accepted manuscripts are prepared for global discovery and citation.
JHD values concise, evidence-based writing and transparent reporting of uncertainty. If your findings challenge existing interpretation frameworks, explain assumptions and provide supporting analyses. This improves review efficiency and reduces revision cycles.
Two Ways to Submit
Choose the workflow that fits your team and timeline.
ManuscriptZone
Best for full tracking, reviewer communication, and revision workflow management.
Simple Submission Form
Best for direct upload when you need a streamlined entry path.
Pre-Submission Query
Send an abstract to [email protected] for quick scope guidance.
Compliance Ready
Both routes support required declarations for ethics, data, and conflicts.
Translational Focus We Prioritize
Papers with practical diagnostic or management implications receive strong editorial interest.
We welcome manuscripts that move from gene discovery to practice, including validated testing pathways, interpretation frameworks, cascade screening models, and family counseling outcomes. Submissions should explain how findings can be adopted in clinical workflows, laboratory protocols, or policy decision environments.
Work that combines robust analytics with implementation realism performs best in review. If resource limitations affect deployment, discuss adaptation strategies clearly so readers can interpret feasibility across different care settings.
Additional Priority Areas
We actively encourage submissions in evolving hereditary disease domains.
AI in Variant Triage
Evaluations of machine-assisted interpretation pipelines with transparent validation.
Newborn Genomic Screening
Evidence on clinical utility, ethics, and long-term follow-up outcomes.
Family-Based Analytics
Pedigree-informed inference and inheritance pattern modeling at scale.
Rare Disease Pathways
Natural history data and care-model studies with actionable conclusions.
Before You Submit
A short internal checklist can reduce revision cycles.
Confirm that the manuscript includes a complete data availability statement, ethics details, clear limitations, and consistent terminology across text, tables, and supplementary files. A concise cover letter describing novelty and clinical relevance helps editors assign reviewers faster.
What Strengthens Early Editorial Decisions
Well-positioned manuscripts move through screening faster.
Clear Question
State the hereditary mechanism or diagnostic gap addressed by the study.
Validated Methods
Provide analytical quality details and reference standards for interpretation.
Clinical Link
Explain how findings inform diagnosis, counseling, or treatment direction.
Transparent Limits
Document uncertainty and known limitations to support responsible use.
Submissions that combine technical rigor with implementation relevance are prioritized for efficient peer review routing.
Framing High-Impact Hereditary Studies
Strong framing helps editors identify priority contributions quickly.
State the unmet hereditary diagnosis or management problem, define the evidentiary contribution, and explain expected clinical impact. This positioning improves scope confidence and speeds reviewer selection.
Contribute to Hereditary Disease Science
Submit your manuscript and help shape future standards in inherited disease research.
For support: [email protected]
