Thursday, 27 December 2018

Human Genetics and Genetic Diseases



Human Genetics is the branch of genetics which involves the study of inheritance that occurs in humans. It includes various subfields such as classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, development genetics, clinical genetics, and genetic counseling. Study on human genetics, can explain the human nature, understand and development of effective treatment for diseases.

  • Genomics
  • Genetic Differences and Inheritance Patterns
  • Population Genetics
  • Evolutionary Genetics
  • Mitochondrial DNA
  • Genomics


Genetic Disorder may be caused as a result of new mutation or changes that occur in DNA. It is also a hereditary disease that is caused by parent gene. Mostly it caused due to the abnormalities in the genome. Genetic disorders are classified into different types depending upon single gene or multiple genes. Around 4000 disease are categorized as single gene defect. Some of the multifactorial disorders include heart diseases and diabetes. Some of the common diseases are asthma, Diabetes, Hypertension, and Obesity.

  • Diagnosis of the Genetic Disorder
  • Gene Therapy
  • Inborn Errors of Metabolism
  • Prognosis of the Genetic Disorder

Some of the Common Genetic Disorder:
  • Breast Cancer
  • ADA Immune Deficiency
  • Cystic Fibrosis
  • Down Syndrome
  • Alzheimer Disease
  • Duchenne Muscular Dystrophy
  • Ectrodacytly
  • Fragile X Syndrome
  • Hemophilia
  • Hunter Syndrome
  • Jackson-Weiss Syndrome
  • Melanoma
  • Muscular Dystrophies
  • Retinoblastoma
  • Neurofibromatosis
  • Gaucher Disease
  • Retinoblastoma
  • Inherited Arrhythmia Disorders
  • Severe Combined Immunodeficiency Disorder (SCID)
  • Werner Syndrome
  • Lysosomal Storage Disease
  • Sickle Cell Anaemia
  • Tay-Sachs
  • Thalassemia
  • Tunner Syndrome

Track 03 # : GENOMICS

Genomics is the field of genetics which deals with the study of structure, function, evolution, mapping, and editing of genomes. Genomics involves the sequencing and analysis of genomes using DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes.

Advancement in genomics made a transformation in discovery-based research and systems biology to understand complex biological systems such as the brain.

  • Functional Genomics
  • Epigenomics
  • Metagenomics
  • Applications of Genomics -  Genomic medicine, Conservation Genomics
  • Structural Genomics


Sickle-cell disease (SCD) is a group of blood disorders typically inherited from an individual's parents. Amongst all, the most type is known as sickle-cell anaemia (SCA). An abnormality in the oxygen-carrying protein haemoglobin (haemoglobin S) found in red blood cells is seen in SCD. This mainly leads to a rigid, sickle-like shape under certain circumstances. Sickle cell disease Problems typically begin around 5 to 6 months of age. Sickle-cell disease caused due to when inheritance two abnormal copies of the haemoglobin gene, one from each parent. This gene present in chromosome 11. Various subtypes exist, depending on the exact mutation in each haemoglobin gene. An attack can get started with temperature changes, stress, dehydration, and high altitude.

  • Genetics of Sickle Cell Anaemia
  • Signs and Symptoms
  • Pathophysiology of Sickle-Cell Disease
  • Diagnosis of Sickel Cell Diseases

Track 05 # : THALASSEMIA

Thalassemia is characterized as an abnormal hemoglobin producing condition. It is a type of inherited blood disorders. Symptoms are mild to severe anemia due to low red blood cells count. Anemia can make one feel tired and have pale skin. Bone problems, an enlarged spleen, yellowish skin, dark urine, among children slow growth are other related symptoms or Thalassemia.

There are two main types in Thalassemia, alpha Thalassemia, and Beta Thalassemia. Diagnosis is done by blood tests including a complete blood count, special haemoglobin tests, and genetic tests. Diagnosis can also be done before birth by prenatal testing.

  • Prevention
  • Management of Thalassemia
  • Signs and Symptoms
  • Pathophysiology


Medical Genetics is a branch of medicine that involve diagnosis and management of genetic disorders. Slightly medical genetics and human genetics differ in certain ways, where human genetics is a field of scientific research which may or may not apply to medicine but medical genetics depend on the applications of genetics to medical care.

  • Genetic Medicine - Gene Theraphy, Personalized Medicine and Predictive Medicine
  • Genetic Counselling
  • Subspecialities -  Clinical genetics, Metabolic/Biochemical genetics, Cytogenetics, Molecular Genetics, Mitochondrial Genetics
  • Diagnostic Evaluation - Chromosome Studies, Basic Metabolic Studies, Molecular Studies


Human evolutionary genetics explain how one human genome will differ from another human genome, from where the evolutionary past arrived that gave rise to it, and also its the current effects. This disparity between the genomes has anthropologival, historical, medical and forensic implication and applications. Genetic data can provide important insight into human evolution. It helps one to understand the differences in the human genome and learn about how evolution has affected the development of the genome and acquired diversity. 

  • FOXP2 and Human Evolution
  • Genetic Genealogy
  • Archaegenetics
  • Human Genetic Variation
  • Race and Genetics


It is a type of genetic engineering which involves addition, deletion, and insertion or modification of genome in an organism. The common thing in this research is to modify DNA sequence and observe the changes on the organism. This method is known as reverse genetics where it is vice versa to forward genetics in which the phenotype will be observed first and genetics of the organism will be studied later.

  • Gene Therapy
  • Site-Directed Mutagenesis
  • Role of CRISPR in Genome Editing
  • Eradicating Diseases


Cancer genetics studies about the heritable gene variants in humans and other animals that causes the change in risk of tumour or haematological malignancy. An Individual cancer risk varies and is influenced by familial and sporadic oncogene or tumour suppressor gene mutations as well as rare and common constitutional variants present in the population. For many years, cancer genetics has mainly focused on mutational events which hae their own primary effect within the cancer cell.

  • Molecular Diagnostics for Cancer
  • Next Generation Sequencing in Cancer
  • Cancer Pharmacogenetics
  • Cancer Epigenetics
  • Cancer Genome Sequencing
  • Cancer Genomics

Track 10 # : EPIGENETICS

Epigenetics is a biological mechanism exhibiting functionally relevant changes to the genome that does not involve changes in the DNA sequences. Epigenetics controls the gene expression through the action of repressor protein that attaches to silencer regions of the DNA, switching between turn on and off of a gene, leading to alteration in the chromosomal regions.

  • Epigenetic Modifications in Cardiovascular Disease
  • Epigenetic Therapy
  • Epigenetics of Neourodegenerative Diseases
  • Nutriepigenomics
  • Behavioral Epigenetics
  • Computational Epigenetics


Bioinformatics is an interdisciplinary subject that develops methods and software tools for the understanding concept of biological data. As an interdisciplinary field of science, bioinformatics is a combination of biology, computer science, mathematics and statistics to analyze and interpret the biological data. Using mathematical and statistical techniques, in silico analyses of biological queries is carried out in Bioinformatics.

  • Cancer Computational Biology
  • Comparative Genomics
  • Novel Bioinformatics/Computational Tools and Methods
  • Computational Epigenetics
  • Computational Evolutionary Biology
  • Computational Phylogenetics
  • Comparative Genomics


DNA sequencing is the process of determining the actual order of nucleotide (Adenine, Guanine, Cytosine, and thymine) within a DNA molecule. THis technique is used in various fields such as medical diagnosis, biotechnology, forensic biology, virology, and biological systematics and anthropology.

  • Basic methods - Maxam - Gilbert Sequencing, Chain-Termination Methods
  • Advanced Methods and De Novo Sequencing -
  1. Bridge PCR
  2. Shotgun Sequencing
  • High - Throughput Methods -
  1. Massively Parallel Signature Sequencing (MPSS)
  2. Polony Sequencing
  3. 454 Pyrosequencing
  4. Ilumina (Solexa) Sequencing
  5. Solid Sequencing
  6. Ion Torrent Semiconductor Sequencing, DNA Nanoball Sequencing
  7. Heliscope Single Molecule Sequencing
  8. Single Molecule Real Time (SMRT) Sequencing
  9. Nanopore DNA Sequencing
  • Methods in Development-
  1. Tunnelling Currents DNA Sequencing
  2. Sequencing by Hybridization
  3. Microfluidic Sanger Sequencing
  4. RNAP Sequencing
  5. In Vitro Virus High-Throughput Sequencing
  • Cancer Genome Sequencing
  1. Microscopy-Based Techniques
  2. Sequencing with Mass Spectrometry


Immunogenetics is under a division of medical genetics that exploits the relationship between the genetics and the immune system. Type 1 diabetes is an Autoimmune disease, it has complex genetic traits which result due to defects in the immune system. New target genes for therapeutic approaches are identified by identification of genes defining the immune defects. Alternatively, by making use of genetic variation the immunological pathway leading to disease is defined. It highlights the emerging technical and various conceptual breakthrough that pitch for mechanisms of anti-donor responses.

  • The immunogenetics of Neurological Disease
  • Bone Involvement in Monogenic Autoinflammatory Syndromes
  • Immune-Suppressive Effects of Interleukin-6
  • Mechanisms behind TB, HBV, and HIV Chronic Infections
  • Immunoglobulin Genotypes and Cognitive Functions


Pharmacogenomics is the study dealing with the response of an individual with respect to their genome to the administered drugs. As the name suggests it is the combination of two different fields that is pharmacology and genomics. Pharmacogenomics is often used interchangeably with pharmacogenetics. Adverse drug reactions are a significant cause of hospitalizations and deaths in many countries.

  • Chemogenomics
  • Personalized Medicine
  • Toxicogenomics
  • Clinical Pharmacogenetics
  • Pharmacogenetics in Cardiovascular Medicine

Track 15 # : GENE MUTATION

A gene mutation happens due to permanent alteration in the DNA sequence that makes up a gene, in a way that the sequence differs from what is found in most of the normal individual. Mutations range in size, they can affect anywhere from a single DNA base pair to a large segment of a chromosome, one including multiple genes. It can be classified in two major ways that is hereditary mutations and acquired mutations.

  • Induced Mutations
  • Next generation Panel Sequencing
  • Site-Directed Mutagenesis
  • Autoinflammatory Disease Genes in Gene Mutation


Behavioural genetics is the branch of genetics which deals with the study of behaviour of an organism. It also differentiates behaviour of different organism depending upon the genetics. Behavioural genetic studies have extensively impacted cutting-edge know-how the role of genetic and environmental impacts on behaviour. Different methodology involved are Animal studies, Twin and family studies, Quasi-experimental designs.

  • Quantitative Genetics
  • Evolutionary Psychology
  • Genes, Brain and Behaviour
  • Human Behaviour Genetics
  • Psychiatric Genetics


Use of Stem cells for the treatment and prevention of diseased condition is categorized under stem cell therapy. Bone marrow transplant is found to be most widely used among various stem-cell therapies. Some stem cell therapies were acquired by using umbilical cord blood. Stem-cell therapy has turned into a controversial trailing to the developments where scientists are able to isolate and culture embryonic stem cells, to create stem cells using somatic cell nuclear transfer and their use of techniques to create induced pluripotent stem cells. These controversies often comprehend abortion politics and to human cloning. Stem cell therapy has been exploited for treatments of neuorodegenerative diseases and conditions such as diabetes and heart disease.

  • Role of Stem Cells in Cancer
  • Drug Discovery and Biomedical Research
  • Hematopoietic Stem Cell Transplantation
  • Regenerative Treatment Models


Neurogenetics is the branch of genetics which studies the development and function of nervous system. Many neurological disorders like Alzheimer's and Parkinson's diseases can be related to neurogenetics and the research of genetics on neurological disorder are still on going.

  • Current Research
  • Gene Sequencing
  • Neurological Disorders- Alzheimer's Disease and Parkinson's Disease
  • Methods of Research
  • Behavioral Neurogenetics


Genetic counseling is the technique by which the patients or family liable to an inherited disease are counselled of the results and nature of the sickness, the possibility of growing or transmitting it, and the options open to them in management and family planning. This complicated procedure may be separated into diagnostic (the real estimation of threat) and supportive factors.

  • Reprogenetics
  • Genomic Counceling
  • Whole Genome Sequencing
  • Genetic Counsellors


Nutrigenomics is a department of nutritional genomics and is the study of the consequences of ingredients and food parts on gene expression. It is a area or research focusing on figuring out and knowledge molecular-level interaction between vitamins and different nutritional bioactives with the genome.

  • Anti-Aging
  • Public Health Genomics
  • Background and Preventive Health


Regenerative medication is the department of translational studies which involves the method of replacing, engineering or regenerating human cells, tissues or organs to restore or set up regular function. This area holds the promise of engineering broken tissues and organs via stimulating the frame's very own restore mechanisms to functionally heal formerly irreparable tissues or organs

  • Biomedicine
  • Regeneration in Humans
  • Anti-Aging medicine
  • Stem Cell Treatments

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@ Jackie San

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