MOLECULAR GENETICS AND METABOLISM
Scope & Guideline
Connecting Genetics with Metabolic Pathways for Tomorrow's Discoveries
Introduction
Aims and Scopes
- Genetic and Molecular Basis of Inherited Disorders:
Research exploring the genetic mutations and molecular mechanisms underlying various inherited metabolic disorders, providing insights into their pathophysiology. - Clinical Applications and Treatment Strategies:
Studies that evaluate the efficacy of current treatments, including enzyme replacement therapies and novel pharmacological approaches, aimed at improving patient outcomes. - Biochemical and Metabolic Profiling:
Investigations into the metabolic profiles associated with specific genetic disorders to identify biomarkers for diagnosis and treatment monitoring. - Patient-Centric Research:
Research that emphasizes patient experiences, quality of life, and caregiver perspectives, contributing to a holistic understanding of the impact of metabolic diseases. - Innovative Therapeutic Approaches:
Development and evaluation of innovative therapies, including gene therapy, substrate reduction therapy, and pharmacological chaperones, to address metabolic disorders.
Trending and Emerging
- Gene Therapy and Genome Editing:
An increasing number of studies focus on gene therapy techniques, including CRISPR and AAV-mediated gene delivery, highlighting their potential in treating metabolic disorders. - Patient-Reported Outcomes and Quality of Life:
Research emphasizing the importance of patient-reported outcomes and the psychosocial impact of metabolic diseases is gaining prominence, reflecting a shift towards patient-centered care. - Multi-Omics Approaches:
There is a growing trend towards integrating genomics, proteomics, and metabolomics to provide a more comprehensive understanding of metabolic disorders and their treatment. - Telemedicine and Remote Monitoring:
The COVID-19 pandemic has accelerated research into telemedicine and remote monitoring strategies, showcasing their effectiveness in managing patient care during public health crises. - Personalized Medicine:
Emerging themes in personalized medicine highlight the need for tailored treatment approaches based on individual genetic profiles, enhancing therapeutic efficacy.
Declining or Waning
- Traditional Diagnostic Methods:
There has been a noticeable decrease in publications focused on conventional diagnostic methods, as newer genomic and metabolomic techniques gain traction. - General Population Studies:
Research involving broad population studies without a specific focus on genetic or metabolic disorders has diminished, as more targeted studies are preferred. - Basic Biochemistry without Clinical Relevance:
Papers that explore basic biochemical pathways without direct clinical applications or implications for patient care are becoming less frequent. - Animal Models with Limited Translational Relevance:
Research utilizing animal models that do not effectively translate to human conditions or lack clear therapeutic implications is less commonly published.
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