Aims & Scope
Journal of Hereditary Diseases (JHD) publishes peer-reviewed research on the genetic architecture, molecular mechanisms, clinical manifestations, and therapeutic interventions for inherited disorders across all organ systems and life stages.
Genetic Mutations
Inheritance Patterns
Gene Therapy
Genomic Medicine
Rare Diseases
We do NOT consider: Acquired diseases without genetic basis, purely environmental pathologies, non-heritable somatic mutations in non-cancer contexts, or general population health studies lacking genetic focus.
Core Research Domains
Molecular Genetics & Pathogenesis
- Gene mutations and chromosomal abnormalities (deletions, duplications, translocations)
- Mendelian inheritance patterns (autosomal dominant/recessive, X-linked, mitochondrial)
- Epigenetic regulation in hereditary disease expression
- Genotype-phenotype correlations and variable expressivity
- Molecular pathways in disease progression
- Genetic modifiers and penetrance factors
Typical fit: Identification of novel CFTR mutations in cystic fibrosis patients with atypical phenotypes, including functional characterization and correlation with clinical severity.
Clinical Manifestations & Diagnosis
- Phenotypic characterization of hereditary syndromes
- Natural history studies and disease progression
- Genetic testing methodologies (NGS, WES, WGS, chromosomal microarray)
- Biomarker discovery for early detection and monitoring
- Prenatal and preimplantation genetic diagnosis
- Newborn screening programs for genetic disorders
Typical fit: Longitudinal study of cardiac manifestations in Marfan syndrome patients, establishing age-specific risk stratification criteria for aortic dissection.
Therapeutic Strategies & Management
- Gene therapy and genome editing (CRISPR, base editing, prime editing)
- Pharmacogenomics and personalized treatment approaches
- Enzyme replacement and substrate reduction therapies
- Small molecule therapeutics targeting genetic pathways
- Clinical trial outcomes for hereditary disease interventions
- Multidisciplinary management protocols
Typical fit: Phase II clinical trial results of AAV-mediated gene therapy for Duchenne muscular dystrophy, including safety profile, dystrophin expression levels, and functional outcomes.
System-Specific Hereditary Disorders
- Neurogenetic disorders (muscular dystrophies, hereditary neuropathies, ataxias)
- Metabolic and mitochondrial diseases (lysosomal storage, organic acidemias)
- Cardiovascular genetics (cardiomyopathies, channelopathies, connective tissue disorders)
- Hemoglobinopathies and coagulation disorders (thalassemia, hemophilia, sickle cell disease)
- Hereditary cancer syndromes (BRCA, Lynch syndrome, Li-Fraumeni)
- Genetic immunodeficiencies and autoinflammatory syndromes
Typical fit: Comprehensive genetic and clinical analysis of a cohort with hereditary hemorrhagic telangiectasia, identifying novel ENG and ACVRL1 variants and their impact on vascular malformation patterns.
Secondary Focus Areas
Population & Epidemiological Genetics
Founder effects, genetic drift, consanguinity studies, carrier frequency analysis, and population-specific disease prevalence in hereditary conditions.
Genetic Counseling & Ethics
Risk assessment methodologies, family pedigree analysis, psychosocial impacts of genetic diagnosis, informed consent frameworks, and reproductive decision-making.
Bioinformatics & Computational Approaches
Variant interpretation algorithms, in silico pathogenicity prediction, structural modeling of mutant proteins, and AI-driven diagnostic tools for hereditary diseases.
Model Systems & Functional Studies
Animal models (mouse, zebrafish, Drosophila), patient-derived iPSCs, organoid systems, and CRISPR-engineered cell lines for mechanistic investigation.
Rare & Undiagnosed Diseases
Novel syndrome delineation, gene discovery through trio/family sequencing, phenotype expansion of known disorders, and diagnostic odyssey resolution.
Pharmacogenetics
Genetic determinants of drug metabolism, adverse reaction prediction, dose optimization based on genotype, and implementation of pharmacogenomic testing in hereditary disease management.
Emerging Research Frontiers
Explicit Exclusions
Out of Scope - Desk Rejection
- Acquired diseases without genetic predisposition Infectious diseases, traumatic injuries, purely environmental exposures (unless investigating genetic susceptibility factors)
- Somatic mutations in non-hereditary contexts Sporadic cancers without germline component, age-related clonal hematopoiesis, non-inherited mosaicism (except when relevant to hereditary syndrome diagnosis)
- General population genetics without disease focus Ancestry studies, evolutionary genetics, phylogenetics, or population structure analyses lacking direct hereditary disease relevance
- Complex multifactorial diseases Type 2 diabetes, essential hypertension, common psychiatric disorders (unless studying rare Mendelian subtypes or monogenic forms)
- Non-genetic developmental disorders Teratogen-induced malformations, birth injuries, or developmental delays without identified genetic etiology
Article Types & Editorial Priorities
Priority 1: Fast-Track Review
Target 21 days to first decision- Original Research Articles (novel gene discovery, functional studies, clinical trials)
- Systematic Reviews & Meta-Analyses (PRISMA-compliant)
- Methods & Resources (validated diagnostic protocols, novel assays)
Priority 2: Standard Review
Target 35 days to first decision- Short Communications (preliminary findings, technical notes)
- Clinical Case Series (minimum 5 patients with novel genotype-phenotype data)
- Perspectives & Commentaries (invited or commissioned)
- Data Notes (genomic datasets, variant databases)
Rarely Considered
High bar for acceptance- Single Case Reports (only if exceptionally novel syndrome or gene)
- Opinion Pieces (by invitation only)
- Letters to Editor (responses to published articles)
Editorial Standards & Requirements
Reporting Guidelines
- STROBE for observational studies
- CONSORT for clinical trials
- PRISMA for systematic reviews
- STREGA for genetic association studies
- ARRIVE for animal research
Data Sharing Policy
- Genetic variants: ClinVar/LOVD deposition required
- Sequencing data: dbGaP/EGA submission encouraged
- Clinical data: anonymized datasets upon reasonable request
- Code availability for computational methods
Ethics Requirements
- IRB/Ethics committee approval mandatory
- Informed consent documentation
- Patient privacy protection (HIPAA/GDPR compliance)
- Genetic counseling availability statement
- Incidental findings management protocol
Preprint & Prior Publication
- Preprints (bioRxiv, medRxiv) welcomed
- Conference abstracts permitted
- No duplicate publication
- Overlapping cohorts must be disclosed
Decision Metrics & Performance
28
Days to First Decision (median)
32%
Acceptance Rate
45
Days to Publication (post-acceptance)
Open
Access Model (APC applies)
Ready to Submit?
If your research advances understanding of hereditary disease genetics, mechanisms, diagnosis, or treatment, we want to hear from you.
Submit Your Manuscript
Questions about scope fit? Contact our editorial team at [email protected]
