Human Genetics and Genetic Diseases

Yoga practice is increasingly recognized for its impact beyond physical fitness, extending to significant molecular and genetic changes in the body. Recent research highlights that yoga not only promotes physical and mental well-being but also influences gene expression through epigenetic mechanisms.

Key Aspects:
Molecular-Level Changes in Genes
Mental Health Development

Genetic counselling is a professional service that provides individuals and families with information and guidance about genetic diseases and their implications. Through genetic counselling, patients can better understand their personal and family health history, assess the risk of genetic disorders, and make informed decisions about their health.

Key Components:
Risk Assessment
Genetic Testing Guidance
Pregnancy Support Services

Genetic medicine is a specialized field within healthcare focused on the diagnosis, treatment, and management of genetic disorders. It applies principles from medical genetics to address hereditary conditions and utilizes genetic information to guide patient care and therapeutic strategies.

Key Areas of Focus:
Diagnosis of Genetic Disorders
Treatment and Management
Genetic Counselling
Clinical Applications
Personalized Medicine
Preventive Care
Gene Therapy
Distinctions from Human Genetics
Human Genetics
Medical Genetics
Benefits and Impact
Enhanced Diagnosis
Customized Treatment Plans
Family and Patient Support

Biochemical genetics is an interdisciplinary field that integrates principles from genetics and biochemistry to explore the relationship between genes and the biochemical processes they influence. This field focuses on understanding how genetic variations affect the structure, function, and metabolism of cellular components, including proteins, carbohydrates, lipids, nucleic acids, and other biomolecules.

Key Areas of Focus:
Biochemical Pathways
Molecular Functions
Disease Mechanisms
Clinical Applications
Biochemical Testing
Genetic Interpretation

Population genetics is the branch of genetics focused on understanding genetic variation within and between populations and the evolutionary processes driving these variations. It explores how genetic diversity is distributed and maintained over time, relying on the Hardy-Weinberg equilibrium as a foundational principle. This equilibrium assumes a large population size, random mating, and negligible mutation, selection, and migration to predict genetic frequencies.

Key Objectives:
Genetic Diversity Analysis
Evolutionary Processes
Equilibrium Assessments
Popular Tools and Software for Population Genetics Analysis
Ne estimator
Bottleneck
Lamarc

Inherited cardiac conditions (ICCs) also known as genetic cardiac conditions, encompass a range of relatively rare heart diseases caused by mutations in one or more genes. These genetic abnormalities can lead to various heart issues, including:
Structural Heart Changes: Genetic mutations that affect the structure of the heart muscle, potentially leading to symptoms of heart failure.
Electrical System Disruptions: Abnormalities in genes that impact the heart’s electrical system, which can result in irregular cardiac rhythms.

Pharmacogenomics is also known as pharmacogenetics or drug-gene testing which is the study of how an individual’s genetic makeup affects their response to medications. This field aims to personalize drug therapy to optimize treatment outcomes and minimize adverse effects, ultimately enhancing the efficacy and safety of pharmaceuticals.

Key Objectives:
Personalized Medicine
Reducing Adverse Drug Reactions
Improving Healthcare Efficiency

Neurogenetics examines the influence of genetic factors on the development and function of the nervous system, highlighting how hereditary variations impact neurological traits and disorders. This interdisciplinary field integrates insights from both genetics and neurology, focusing on how genetic variations can manifest in neural features and affect an individual's neurological health, behaviour, and personality. By studying these genetic influences, neurogenetics aims to enhance our understanding of both typical and atypical nervous system function, contributing to the comprehension of genetic foundations underlying neurological conditions.

Research Methods in Neurogenetics:
Clinical Exome Sequencing
Transgenic RNAi

Gene therapy is an innovative medical approach aimed at treating or preventing diseases by addressing their underlying genetic causes. Unlike conventional treatments that rely on drugs or surgery, gene therapy directly alters a patient's genetic material to correct or compensate for faulty genes. This method holds the potential to offer long-term or even permanent solutions to various genetic disorders.

Key Subtypes of Gene Therapy:
Ex Vivo Gene Therapy
In Vivo Gene Therapy
In Situ Gene Therapy
 

Types of Gene Therapy:
Germline Therapy
Somatic Gene Therapy

Applications and Benefits:
Targeted Treatment
Personalized Medicine
Potential for Long-Term Solutions

Cancer genetics is a scientific field dedicated to uncovering the genes and metabolic processes that drive cancer development. This area of study explores:

Cancer-Related Genes
Metabolic Pathways
Tumour Networks and Pathways
Gene Interactions

Classical genetics focuses primarily on the observable traits resulting from genetic inheritance. The field is rooted in the experiments conducted by Gregor Mendel, whose work established the foundational principles of heredity. Classical genetics remains significant for its role in understanding and applying the fundamental mechanisms of inheritance.

Key Concepts:
Allele
Phenotype
Genomics
Linkage Maps
Mutation

Lethal genetic diseases are caused by mutations in essential genes that can lead to the death of the affected organism. These mutations often disrupt critical processes required for development or growth. Lethal alleles can be classified as recessive, dominant, or conditional, depending on their genetic behaviour. They may cause death either before or shortly after birth, but typically manifest early in development.

Key Examples of Lethal Genetic Diseases:
Cystic Fibrosis
Sickle-Cell Anaemia
Achondroplasia

Genetic diseases, prevalent across diverse populations worldwide, often arise from specific genetic mutations or chromosomal abnormalities. Despite varying geographical locations and cultural backgrounds, certain genetic disorders are notably common due to their underlying genetic causes. Ongoing research and advances continue to enhance our understanding and management of these conditions.

Common Genetic Diseases:

Down Syndrome (Trisomy 21)
Fragile X Syndrome
Klinefelter Syndrome
Triple-X Syndrome
Turner Syndrome
Trisomy 18 (Edwards Syndrome)
Trisomy 13 (Patau Syndrome)

Genetic Epidemiology is a specialized field that merges concepts and methods from epidemiology with insights from population and quantitative genetics. It seeks to elucidate how genetic and environmental factors interact to influence disease occurrence and progression within populations. As a relatively recent area of study, genetic epidemiology focuses on understanding the complex interplay between genes and environment in the aetiology of diseases.

Key Objectives:
Interaction Analysis
Population-Level Insights
Risk Assessment

The Genome Integrity Unit is dedicated to studying the mechanisms that maintain the health and stability of DNA, with a particular emphasis on cancer and early development. This unit investigates how cells preserve genomic integrity through sophisticated DNA repair processes in response to damage.

Key Areas of Focus
DNA Repair Mechanisms
Cancer Research
Early Development

Gene Function Prediction and Genome Annotation are critical components of genomics that involve identifying and characterizing genes and their functions within a genome. These processes are essential for understanding biological systems, disease mechanisms, and evolutionary relationships.

Key Tools for Gene Function Prediction and Genome Annotation:
Geneid
Jigsaw
Augustus
EuGene

Clinical genetics provides genetic counselling and diagnostic services for individuals or families affected by or at risk of genetic disorders. These conditions can impact any body system and manifest at any age. The primary objective of clinical genetics is to support individuals with genetic disorders or those at risk, helping them live healthy lives and make informed decisions about their reproductive options.

Key Aspects of Clinical Genetics:
Genetic Counselling
Genetic Diagnosis
Personalized Management Plans
Reproductive Planning
Cross-Disciplinary Collaboration

Comparative genomics involves the direct comparison of the complete genetic makeup of different organisms to gain insights into how species have evolved and to uncover the functions of genes and noncoding regions within genomes. By analysing and comparing genome sequences across various species, comparative genomics enhances our understanding of genome evolution and the impact of natural selection on DNA sequence changes.

Key software tools commonly used in comparative genomics include:
Easyfig
Ensembl
Kegg (Kyoto Encyclopaedia of Genes and Genomes)

Phylogenetic is a powerful approach used to trace the evolutionary history and relationships among modern species. By analysing phylogenetic trees, scientists can uncover the similarities and differences between species and gain insights into their evolutionary development. This method is widely applied across various fields, including:

Forensic Science
Conservation Biology
Epidemiology
Drug Discovery and Design
Protein Structure and Function Prediction
Gene Function Prediction

Immunogenetics examines the complex relationship between genetics and the immune system, encompassing both medical genetics and immunology. It is crucial for understanding genetic predispositions to autoimmune diseases, such as Type 1 diabetes, which arise from immune system dysfunctions. This area of study focuses on several key aspects, including:

Intraspecific Heterogeneity
Tissue Receptor Inheritance
Host-Microbe Interactions
Tissue Incompatibility
Major Histocompatibility Complex (MHC)
Human Leukocyte Antigen (HLA)
Vaccine Efficacy
Mono-specific Antibody