Department of Medical Genetics

Aims and Scope

The Department of Medical Genetics of The Gazette of Medical Sciences (The GMS) publishes peer-reviewed, open-access scholarly work advancing knowledge of human genetics, genomics and their applications to medicine and public health. The Department provides an international platform for clinical geneticists, genomic scientists, clinicians, laboratory specialists, genetic counselors and allied researchers to communicate developments in the genetic basis, diagnosis, prevention and management of human disease.

The Department welcomes original experimental and clinical research, prospective and retrospective studies, systematic and narrative reviews, case reports, case series, short communications, methodological studies, opinions, editorials, letters and scholarly perspectives. Contributions may address inherited and acquired genetic variation, chromosomal abnormalities, genome rearrangements, epigenetic regulation, genotype–phenotype relationships and the molecular mechanisms underlying genetic and genomic disorders.

Particular interest is given to clinical genetics, rare and inherited diseases, complex and multifactorial disorders, cancer genetics, neurogenetics, reproductive genetics, prenatal and pediatric genetics, pharmacogenomics and genetic counseling. The Department encourages studies involving genomic screening, molecular diagnostics, variant interpretation, hereditary disease risk assessment and the integration of genomic information into clinical decision-making.

The scope also encompasses genome-wide association studies, whole-genome and whole-exome sequencing, functional genomics, transcriptomics, computational genetics, bioinformatics, population genetics and genomic epidemiology. Studies exploring gene therapy, genome editing, molecular treatments, personalized medicine and emerging technologies for diagnosing or managing genetic diseases are welcomed.

The Department recognizes the ethical, legal, psychological, behavioral and social dimensions of medical genetics. Research on informed consent, genetic privacy, genomic data sharing, equitable access to genetic services, reproductive decision-making and the responsible clinical use of genomic technologies is encouraged. The Department also welcomes interdisciplinary contributions connecting genetics with neurology, oncology, pediatrics, cardiology, endocrinology, psychiatry, reproductive medicine and public health.

Areas of Interest

Genetic Variations

Genome Rearrangements

Epigenetics

Genotypes and Genotype–Phenotype Relationships

Genetics of Complex Disease

Management of Genetic Diseases

Genetic Disease Therapies

Clinical Genetics

Cancer Genetics

Genome-Wide Analyses

Genetic Bases of Human Disease

Bioinformatics and Computational Genetics

Ethical, Legal and Social Implications of Genetics

Psychological and Behavioral Aspects of Genetic Disease

Human Genomics

Medical Genomics

Molecular Genetics

Chromosomal Disorders

Cytogenetics and Molecular Cytogenetics

Rare Genetic Diseases

Mendelian Disorders

Multifactorial and Polygenic Disorders

Hereditary Cancer Syndromes

Cancer Genomics

Neurogenetics

Cardiovascular Genetics

Metabolic and Mitochondrial Disorders

Reproductive Genetics

Prenatal Genetics

Preimplantation Genetic Testing

Newborn Genetic Screening

Pediatric Genetics

Developmental Genetics

Genetic Counseling

Family History and Genetic Risk Assessment

Carrier Screening

Genomic Screening and Diagnostic Testing

Variant Classification and Interpretation

Whole-Genome Sequencing

Whole-Exome Sequencing

Next-Generation Sequencing

Genome-Wide Association Studies

Functional Genomics

Transcriptomics and Gene Expression

Gene Regulation

Copy Number Variations

Structural Genomic Variations

Population Genetics

Genomic Epidemiology

Pharmacogenetics and Pharmacogenomics

Precision and Personalized Medicine

Gene Therapy

Genome Editing and CRISPR Technologies

RNA-Based Genetic Therapeutics

Genetic Biomarkers

Computational Genomics

Genomic Databases and Data Interpretation

Artificial Intelligence in Genomic Medicine

Genomic Medicine Implementation

Genetic Privacy and Data Protection

Informed Consent in Genomic Research

Equity and Access in Genetic Healthcare

Public Health Genetics

Translational Medical Genetics

The Department supports responsible scientific publishing, research integrity and ethical reporting. Submissions undergo editorial assessment and peer review in accordance with the journal's applicable editorial and publication policies.

Review Article

The role of mutations on gene SLITRK1, in Tourette’s Syndrome

This review examines the clinical characteristics and genetic factors associated with Tourette syndrome, a neurodevelopmental condition characterized by motor and vocal tics. Particular attention is given to the SLITRK1 gene, its proposed role in neuronal development and the possible relationship between genetic variation and tic disorders. The article also discusses clinical manifestations, diagnosis, management and associated neurobehavioral conditions, while acknowledging that the contribution of SLITRK1 mutations to Tourette syndrome remains uncertain.

DOI: https://www.doi.org/10.46766/thegms.medgen.20100501

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Department of Medical Genetics

Aims and Scope

Areas of Interest

Published Articles

The role of mutations on gene SLITRK1, in Tourette’s Syndrome

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