7^th International Conference on
Human Genetics and Genetic Disorders

Human genetics deals with the examination of the inheritance that occurs in human beings. Recent research in human genetics is aimed at untangling the roots of lung cancer. The genomic and host factors that drive the progression of pre-invasive lesions in non-small cell lung cancer. As a result of whole-exome sequencing of pre-invasive lesions and LUADs, the mutation burden increases as lesions in the airway progress from AAH to invasive disease.

• Molecular biology
• Stem cells
• Genome
• Karyotypes

Molecular Genetics deals with the evaluation of the structure and function of genes at a molecular level. It engages with the mechanisms of both molecular biology and genetics. The recent development is based on DNA as a biological lens. It's a new study in cells that describes the technique of DNA microscopy, which uses DNA sequencing to generate images of the spatial distribution of cell biomolecules without direct visualization.

• Developmental biology
• Gene expression
• Chromosomal studies
• Basic metabolic studies
• Bioscience

Research that is carried under medical genetics is based on the evolution that made humans ‘fat’. In this research, human fat is collected and compared with other primitives and analysed for good or bad fat. As medical genetics implies on the diagnosis and treatment of hereditary disorders, Genetic medicine consolidates in spheres such as gene therapy, personalised medicine, and predictive medicine.

• Immunogenetics
• Pharmacogenetics
• Biochemistry
• Percision Medicine
• Biostatistics

A part of evolutionary biology and a subdivision of genetics, which is concerned with the genetic variations among the population, the latest research is finding the genetic relationships of European, Mediterranean, and South-West Asian populations. In population genetics, a large number of populations have been studied and are applied to new population samples. The existing reference database of population samples allows the relationship of new samples to be inferred on a global level.

• Describing the pitch of genetic variation
• Perceiving selection
• Demographic interference
• Evolution of genetic systems

Clinical genetics deals with the proper treatment of rare disorders. A customary formula is required for clinical genetics. They are like clinical history taking, physical examination, genetic testing, genetic counselling, performing skin biopsies, taking clinical snapshots, using computerised databases. The trending news is the discovery and validation of methylated-differentially expressed genes in Helicobacter pylori that are induced by gastric cancer and a new genetic cause for infertility in males. Several diagnostic tests were performed on a few males and their parents to compare parental DNA with that of the offspring in order to identify the novo mutation.

• Diagnostic testing
• Presymptomatic and predictive testing
• Carrier testing
• Pharmacogenetics.
• Prenatal testing

The scientific field concerned with the statistical method for the purpose of drawing inferences from genetic data is Statistical genetics is a developing field commonly used in the context of human genetics. The recent development in statistical genetics is the exploration of gene modules in single cell RNA-seq data by the tool MTGO-SC, which is the key step in the identification of the functional modules in gene interaction networks for understanding biological processes.

• Population Genetics
• Genetic Epidemology
• Quantitative Genetics
• Bioinformatics

Heredity is built on the foundation of genes. They are passed on from one generation to the next. They contain DNA, which contains the instructions for producing proteins. In cells, proteins do most of the work. They transport molecules from one location to another, build structures, break down toxins, and perform a variety of other maintenance tasks. Single-gene disorders, in which a mutation affects only one gene, are one of three forms of genetic disorders. One example is sickle cell anaemia. Chromosomal disorders are conditions in which chromosomes (or portions of chromosomes) are absent or altered. The structures that house our genes are known as chromosomes. Down syndrome is a chromosomal disorder. Complex disorders, where there are mutations in two or more genes, Often, your lifestyle and environment also play a role. Colon cancer is an example.

• Asthma and Allergy
• Heart disease
• Hypertension
• Infertility
• Diabetes
• Obesity
• Cancer

Genomics is the associative sphere of biology which spotlights the structure, function, evolution, mapping, and editing of genomes. Genomic has emerged with new innovations like the sequencing of human genomes with nanopore technology. Nanopore technology has been extensively used for sequencing bacterial and viral genomes. Nano pore human genome sequencing achieves high accuracy in identifying structural variations in patient samples.

• Proteomics
• Bioinformatics
• Pharmacogenomics
• Metagenomics
• Computational biology

Mutation is the modification of the nucleotide sequence of the genome of an organism, virus or extra chromosomal DNA. The researchers have identified the trending immunodeficiency diseases caused by genetic mutation. The researchers investigated that the infants were suffering from inflammatory bowel disease. The mutation meant in this disease is that the natural killer cells were incapable of maturing properly and caused a decrease in immune cells.

• Harmful mutation.
• Beneficial mutation.
• Prion mutation
• Somatic mutation
• Amorphic mutation

Gene mapping identifies the location of the gene and the distance between the genes. The genetic map can be built by the development of genetic markers and a mapping population. The recent research is based on reconstructing recent population history while mapping rare variants using haplotypes. The haplotype-based method is to characterise the observed rare variants and map disease that is associated with alleles. Recently, by using inflammatory bowel disease mapping, two rare IBD haplotypes enriched with asthma patients have been identified.

• Molecular marker
• Genome sequencing
• Electrophoresis
• Restriction enzymes

DNA is a double helix structure that is coiled around each other and is composed of two chains of molecules to carry genetic instruction for the development and growth of organisms. But recently, a new DNA structure inside the human cell known as "i-motif" has been found by scientists. It resembles a knot of DNA. The researchers are going on to identify the function of the new DNA. They suspect it would be used for reading DNA sequences.

• Genetic engineering
• DNA profiling
• DNA enzymes
• DNA nanotechnology

Gene therapy is the curative conveyance of nucleic acid into a patient’s cells to treat disorders. Bone marrow transplantation and organ transplantation in general have been inaugurated to introduce foreign DNA into patients. The researchers came up with success in gene therapy through small clinical trials, which showed that it can safely correct the immune systems of infants diagnosed with rare life-threatening disorders. The children affected by X-linked severe combined immunodeficiency that affects them received experimental gene therapy, which shows that there is improvement in the immune system and they were growing normally up to 2 years.

• Somatic cell type
• Germ line cell type
• Gene expression

Helping couples, families, and individuals to understand their inherited genetic condition to make health decisions is proposed by a genetic counsellor. A new genetic defect that causes intellectual disability has been discovered. The genetic mutation that causes X-linked syndrome intellectual disability is carried and passed on to offspring by unaffected females, but an interesting note is that the symptoms are observed in males such as behavioural issues, small average brains, and testes.

• Cardiovascular genetics
• Hereditary cancer genetics
• Neuro genetics
• Paediatric genetics

The field of genetic epidemiology is characterised by an amalgam of strategies earned from customary studies of disease transmission; population and family-based studies of disease transmission; measurements; and critically, bioinformatics. Together, explicit parts of these controls are applied to the investigation of quality and condition, and of quality and condition cooperation. Both quantitative and subjective qualities might be of intrigue. The study of disease transmission utilises novel case-control, family, and populace-based plans and genotyping from different sources.

• Molecular Epidemiology
• Statistical Genetics
• Behaviour genetics
• Bioinformatics

The recent reviews are focused only on cancer in the way that renal carcinoma occurs due to chromosomal aberration, in which the translocation of chromosomes occurs frequently, where the part of one chromosome can be found joined to another. Chromosome abnormalities can be of two types, which include numerical abnormalities and structural abnormalities. The numerical abnormality is because of the alteration in one of the chromosomes or more than one chromosome. The structural abnormality is the alteration in the structure of the chromosomes.

• Numerical disorders
• Structural disorders
• Replication of DNA

As known, cytogenetics deals with chromosomal structure, location of genes on chromosomes and chromosomal behaviour in cell division. On-going chromosomal instability and karyotype evolution in human colorectal cancer organoids and evaluation of DNA interaction, genotoxicity, and oxidative stress induced by iron oxide nanoparticles both in vitro and in vivo, since iron particles are known to induce cytotoxicity in various cancer cell lines through the generation of reactive oxygen species.

• Mitosis
• Meiosis
• Fluorescent in situ hybridization
• Comparative genomic hybridization

Genetics and nervous system science are concentrated on together in a part of science called neurogenetics, which concerns the turn of events and capacity of the sensory system as well as the pretended qualities in its turn of events. In hereditary qualities, the expression "aggregate" alludes to the actual traits or attributes of a living being, and the expression "genotype" alludes to a creature's hereditary cosmetics. With regards to the sensory system, "aggregate" may allude to the distinctions in brain attributes between people of similar species, while "genotype" alludes to the hereditary make-up that decides the various characteristics communicated by individual organic entities. For example, a large number of the circumstances that fall under the umbrella of neurogenetics, for example, Alzheimer's, Huntington's, and epilepsy, are as yet key subjects of examination today, and a lot is currently perceived about the hereditary premise of these and numerous different circumstances.

Because of the incomplete knowledge of the gene, genetic diagnosis remains unattainable for many individuals with rare diseases. Gene testing is a diagnosis method that involves the detection of alleles, mutations, genotypes, and karyotypes that are associated with heritable traits. The latest innovation in gene testing is about the characterization of the X-linked developmental disorder called Craniofrontonasal syndrome, which occurs due to EFNB1 mutations, and it illustrates the absence of correlation between the mutation type, severity, and expression of symptoms.

• Down syndrome
• Muscular dystrophy
• Huntington’s disease

Recently, research is under way to find a solution for curing genetic disorders. In that way, a new study involving integrative genomic and transcriptomic analysis of dual hepatocellular-intrahepatic cholangiocarcinoma tumours has been identified that display different clinical and molecular features that would be used to guide therapeutic decisions. The struggle for a cure for genetic disorders is an on-going struggle with a large number of clinical trials having been completed. Despite that, some of the therapeutic options revolve around nursing the symptoms of the disorders to enhance the quality of life.

• Bone marrow transplantation
• Palliative care
• Stem cell treatment
• Drug intervention

Many ethical, legal, and social concerns (ELSI) related to genetic testing and research have been posed in the last decade. These problems should be addressed with patients so that they are aware of the dangers and advantages of genetic testing so that it can be used safely and properly. This chapter gives a quick rundown of some of the most pressing ELSI questions about genetic testing. Concerns have been raised about the use and possible exploitation of genetic data. The unease stems from a variety of concerns, ranging from a genetic test's analytical and clinical validity, to the perceived stigma of having a genetic variation, to the responsibility of revealing genetic information to potentially affected individuals.

• Communicating test results
• Direct-to-consumer tests
• Duty to disclose
• Genetic discrimination
• Psychosocial impact
• Reproductive issues