The Genetics of Common and Rare Diseases section is committed to publishing research focused on understanding the genetic basis of various human diseases and traits.

Led by Dr. Erica Davis from Stanley Manne Children’s Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, and Dr. Jordi Pérez-Tur from Institute of Biomedicine of Valencia, Spanish National Research Council (CSIC), this section welcomes submissions that explore the diverse aspects of genetics, aiming to uncover the underlying mechanisms and therapeutic avenues for both common and rare diseases.

Topics considered within the scope of this section include:

genetic and genomic studies identifying causal or contributory loci with mechanistic follow-up using in vitro or in vivo model systems
human genetic studies of disorders and disease-relevant traits
novel computational approaches for dissecting human genetic diseases
translational studies, including novel diagnostics, therapeutic target identification, and preclinical studies

Submissions should provide comprehensive and in-depth knowledge about the genetic basis of diseases, their underlying mechanisms, and potential therapeutic approaches.

The Genetics of Common and Rare Diseases section welcome manuscripts fulfilling the following criteria:

Mendelian traits:

New causal gene explaining a phenotype or disorder in one or more families. Findings should be accompanied by adequate support for causality, especially when the gene discovery is reported in a single family. For discoveries in single families, support for causality must include experimental models (in vivo and/or in vitro) and should also be supported by population genetics and in silico modelling.
New mechanistic insights about a known gene or variant. These findings need to be supported by experimental data and not just in silico predictions. Transcriptomic, proteomic, or novel model organism studies are welcomed and encouraged.
Mutational analysis of a known gene in a novel disease cohort and reporting of allelic contribution whether it be novel or known alleles. A review of new results in the context of existing cohorts is especially important to compare what is currently known about the disorder.
New case reports are welcomed as long as they conform to the article type definition which can be found here. In any case, reporting known or new variants in well stablished disease-causing genes will not be accepted unless they are related to a significantly new phenotype or a different disorder.
New diagnostic approach (known or novel gene set). If the approach focuses on a known gene set, a comparison against existing strategies to highlight strengths and limitations is required.
New digenic or oligogenic phenomena. Studies with multiple families are preferred, but if reported in one family, strong genetics and functional support are required for further consideration.

Complex traits:

Study design and power. A study should have adequate sample size to have sufficient power to allow detection of the effect sizes we now expect given current understanding of the genetic architecture of complex traits. The power of the study should be explicitly stated.
Statistical significance. Unless testing a locus with very strong prior evidence (i.e. already robustly associated with a particular trait at stringent significance thresholds, normally p<5x10-8) in a new setting, any claims for novel association should minimally meet Bonferroni multiple testing corrected p-value thresholds. If claiming a completely novel association this would normally be p<5x10-8, findings not meeting this stringent threshold should be carefully placed as ""suggestive"" or meriting additional follow-up.
Studies replicating previously established associations in new population ancestries/ new interesting cohorts are welcome. Replication of a well-established locus in a population of similar ancestry and phenotype would not normally be considered unless there is considerable new biological insight gained from the study. This could take the form of description of a new variant likely to be causal, new mechanistic insight, link with a new phenotype (including molecular phenotypes such as other ""omics"" data).
Studies of well replicated loci but with the addition of new functional data or clinical insights are welcome.
Provided the study design is adequate, the study has been well conducted and is scientifically sound, ""negative"" findings are acceptable. Interpretation of what the ""negative"" results imply is however necessary, i.e., explain power limitations.

Other examples (as applied to Mendelian or complex traits):

New therapeutic approach applied to cells or animals on an established disease model.
Known therapeutic approach applied to a new disease model.
Bioinformatic analysis of existing datasets are acceptable as far as they include new methodological developments, compared with previously existing ones, or/and functional validation of the results obtained in the bioinformatic analysis or public dataset. The mere application of bioinformatic tools to public datasets are not accepted.

In particular, the section welcomes submissions which support and advance the understanding of genetic diseases, their underlying mechanisms, and potential therapeutic approaches, contributing to SDG 3: Good Health and Well-being.

This multidisciplinary section is at the forefront of disseminating and communicating cutting-edge scientific knowledge and impactful discoveries in the field of Genetics of Common and Rare Diseases to researchers, industry, policymakers, and the public worldwide.

Fragile X Mental Retardation Gene (FMR1): Genetic Complexity and Phenotype Variation