Egyptian Journal of Medical Human Genetics
Scope & Guideline
Bridging the gap between genetics and clinical practice.
Introduction
Aims and Scopes
- Genetic Epidemiology:
The journal investigates genetic factors associated with various diseases, employing epidemiological methods to explore the prevalence and risk factors related to genetic disorders. - Molecular Genetics:
Research articles examine the molecular mechanisms underlying genetic diseases, including mutation analysis, gene expression studies, and the role of genetic variants in disease susceptibility. - Clinical Genetics:
The journal provides insights into the clinical implications of genetic findings, including diagnostics, treatment strategies, and management of inherited conditions. - Bioinformatics and Computational Biology:
There is a strong emphasis on bioinformatics approaches to analyze genetic data, identify biomarkers, and explore molecular pathways associated with diseases. - Case Reports and Clinical Studies:
The journal publishes case reports that contribute to the understanding of rare genetic conditions, highlighting unique clinical presentations and genetic findings. - Public Health Genetics:
Research focusing on the implications of genetics on public health, including screening programs and genetic counseling, is a core area of interest.
Trending and Emerging
- Genomic Medicine and Personalized Treatment:
There is a growing emphasis on genomics in clinical settings, with research exploring how genetic information can guide personalized treatment strategies and improve patient outcomes. - Long Non-Coding RNAs (lncRNAs):
Research related to lncRNAs has surged, highlighting their roles in gene regulation and potential as biomarkers for various diseases, particularly in cancer. - Bioinformatics and Data Integration:
The integration of bioinformatics tools and data analytics in genetic research is trending, enabling complex analyses of genetic data and identification of novel biomarkers. - Ethical Considerations in Genetic Research:
With the rise of genomic technologies, there is an emerging focus on the ethical implications of genetic testing, data privacy, and the impact of genetic information on individuals and families. - Cancer Genomics:
Research on the genetic basis of cancer, including studies on tumor mutations and predictive biomarkers, has become increasingly prominent, reflecting the importance of genetics in oncology. - Neurogenetics:
Interest in neurogenetic disorders, particularly related to autism spectrum disorders and neurodegenerative diseases, is on the rise, showcasing the journal's focus on mental health implications of genetics.
Declining or Waning
- Traditional Genetic Testing:
As advancements in next-generation sequencing and whole-genome sequencing become more prevalent, traditional genetic testing methods appear to be less frequently reported in recent publications. - Single Gene Disorders:
Research articles focusing solely on single gene disorders have decreased, possibly due to a growing interest in complex genetic interactions and polygenic risk factors. - Basic Genetic Research:
There is a noticeable decline in publications centered around basic genetic research without direct clinical implications, as the journal shifts towards more applied genetic studies. - Static Genetic Counseling Practices:
The focus on traditional genetic counseling practices has waned in favor of more integrated and personalized approaches, reflecting changes in the field of genetics. - Population Genetics Studies:
While still relevant, the frequency of studies specifically focused on population genetics has decreased as the journal expands its focus to encompass more clinical and translational research.
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