HUMAN MOLECULAR GENETICS
Scope & Guideline
Pioneering research for a healthier tomorrow.
Introduction
Aims and Scopes
- Genetic Epidemiology:
The journal emphasizes studies that explore the genetic factors contributing to various diseases, including complex traits and multifactorial conditions. This includes genome-wide association studies (GWAS) and analyses of population genetics. - Molecular Mechanisms of Disease:
Research that delves into the molecular pathways by which genetic variants influence disease processes is a core focus, including studies on gene expression, protein interactions, and cellular signaling. - Developmental Genetics:
The journal publishes research on how genetic factors affect development and contribute to congenital disorders, utilizing model organisms and human subjects. - Translational Research:
There is a strong emphasis on translating genetic findings into therapeutic strategies, including gene therapy, pharmacogenomics, and the development of novel treatments for genetic disorders. - Neurogenetics:
Given the prevalence of neurodevelopmental and neurodegenerative disorders in recent publications, the journal has a significant focus on understanding the genetic basis and molecular mechanisms underlying these conditions. - Cancer Genetics:
The journal features research on the genetic basis of cancer, including studies on tumor suppressor genes, oncogenes, and the role of genetic variants in cancer susceptibility and progression. - Epigenetics and Gene Regulation:
Research exploring how epigenetic modifications influence gene expression and contribute to disease phenotypes is a key area of interest, particularly in relation to environmental factors.
Trending and Emerging
- Multi-Omics Approaches:
There is a growing trend towards integrating genomic, transcriptomic, proteomic, and metabolomic data to gain a comprehensive understanding of complex diseases. - Functional Genomics and Gene Editing:
Research utilizing CRISPR and other gene editing technologies to explore gene function and develop therapeutic strategies is on the rise, reflecting advancements in genetic engineering. - Neurodevelopmental and Neurodegenerative Disorders:
An increased focus on understanding the genetic and molecular underpinnings of neurodevelopmental disorders and neurodegenerative diseases, with implications for treatment strategies. - Population Genetics and Ancestry Studies:
Emerging themes include the investigation of genetic diversity across populations and the implications for health disparities, particularly in relation to complex traits and diseases. - Environmental and Epigenetic Interactions:
Research exploring how environmental factors interact with genetic predispositions to influence disease outcomes is gaining traction, emphasizing the importance of epigenetics. - Personalized Medicine and Pharmacogenomics:
There is a growing emphasis on the application of genetic insights to tailor medical treatments to individual patients, particularly in cancer and chronic diseases.
Declining or Waning
- Traditional Mendelian Disorders:
Research on classical Mendelian disorders seems to be less prominent in recent publications, possibly overshadowed by the rise of studies focusing on complex traits and polygenic risk. - Basic Genetic Mapping Studies:
There is a noticeable decrease in studies that solely focus on basic genetic mapping without integrating functional analyses or mechanistic insights, as the field moves towards more complex, multifactorial approaches. - Single Gene Therapy Approaches:
While gene therapy remains a popular topic, there seems to be a shift away from single-gene therapies towards more comprehensive strategies that target multiple genes or pathways simultaneously.
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