Topics Covered in 4th World Congress on Human Genetics and Genetic Diseases

Molecular Genetics
Molecular genetics is the sector of biology that research the structure and characteristic of genes at a molecular stage and hence employs strategies of each molecular biology and genetics. The study of chromosomes and gene expression of an organism can give insight into heredity, genetic variant, and mutations. This is useful in the observe of Developmental Biology and in expertise and treating genetic illnesses.

Bioinformatics
Bioinformatics is both an umbrella term for the body of biological studies that use computer programming as part of their methodology, as well as a reference to specific analysis "pipelines" that are repeatedly used, particularly in the field of genomics. Common uses of bioinformatics include the identification of candidate genes and single nucleotide polymorphisms. Often, such identification is made with the aim of better understanding the genetic disease, unique adaptations, and desirable properties in agricultural species, or differences between populations. In a less formal way, bioinformatics also tries to understand the organizational principles within nucleic acid and protein sequences, called proteomics.

Molecular Modeling
Molecular modeling encompasses all methods, theoretical and computational, used to model or mimic the behavior of molecules. The methods are used in the fields of computational chemistry, drug design, computational biology and materials science to study molecular systems ranging from small chemical systems to large biological molecules and material assemblies. The simplest calculations can be performed by hand, but inevitably computers are required to perform molecular modeling of any reasonably sized system. The common feature of molecular modeling methods is the atomistic level description of the molecular systems.

Gene Sequencing
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. It includes any method or technology that is used to determine the order of the four bases is: adenine, guanine, cytosine, and thymine, in a strand of DNA. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery. Knowledge of DNA sequences has become indispensable for basic biological research, and in numerous applied fields such as medical diagnosis, biotechnology, forensic biology, virology and Primate systematics. The rapid speed of sequencing attained with modern DNA sequencing technology has been instrumental in the sequencing of complete DNA sequences, or genomes of numerous types and species of life, including the human genome and other complete DNA sequences of many animal, plants, and microbial species.


Pharmacogenetics
Pharmacogenetics is the study of germ line mutations, the single-nucleotide polymorphisms affecting genes coding for liver enzymes responsible for drug deposition and pharmacokinetics, whereas pharmacogenomics refers to somatic mutations in tumoral DNA leading to alteration in drug response KRAS mutations in patients treated with anti-Her1 biologics. Pharmacogenetics is an inherited genetic difference in drug metabolic pathways which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects. The term Pharmacogenetics is often used interchangeably with the term pharmacogenomics which also investigates the role of acquired and inherited genetic differences in relation to drug response and drug behavior through a systematic examination of genes, gene products, and inter- and intra-individual variation in gene expression and function

Immunogenetics
Immunogenetics is the branch of medical research that explores the relationship between the immune system and genetics. Autoimmune diseases, such as type 1 diabetes, are complex genetic traits which result from defects in the immune system. Identification of genes defining the immune defects may identify new target genes for therapeutic approaches. Alternatively, genetic variations can also help to define the immunological pathway leading to disease.

Translational Medicine
Translational medicine is a rapidly growing discipline in biomedical research and aims to expedite the discovery of new diagnostic tools and treatments by using a multi-disciplinary, highly collaborative; "bench-to-bedside" approach. Within public health, translational medicine is focused on ensuring that proven strategies for disease treatment and prevention are actually implemented within the community. One prevalent description of translational medicine, first introduced by the Institute of Medicine's Clinical Research Roundtable, highlights two roadblocks that is distinct areas in need of improvement the first translational block (T1) prevents basic research findings from being tested in a clinical setting; the second translational block (T2) prevents proven interventions from becoming standard practice. The National Center for Advancing Translational Science (NCATS) was established within the NIH to "transform the translational science process so that new treatments and cures for disease can be delivered to patients faster.

Epigenetics
Epigenetics are stable heritable traits that cannot be explained by changes in DNA sequence. Epigenetics often refers to changes in a chromosome that affect gene activity and expression, but can also be used to describe any heritable phenotypic change that does not derive from a modification of the genome, such as prions. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors, or be part of normal developmental program. Gene expression can be controlled through the action of repressor proteins that attach to silencer regions of the DNA. These epigenetic changes may last through cell divisions for the duration of the cell's life, and may also last for multiple generations even though they do not involve changes in the underlying DNA sequence of the organism; instead, non-genetic factors cause the organism's genes to behave or "express themselves" differently.

Stem cell Transplantation

Hematopoietic stem cell transplantation is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood. It may be autologous the patient's own stem cells are used, allogeneic the stem cells come from a donor or syngeneic from an identical twin. It is a medical procedure in the field of hematology, most often performed for patients with certain cancers of the blood or bone marrow, such as multiple myeloma or leukemia. In these cases, the recipient's immune system is usually destroyed with radiation or chemotherapy before the transplantation. Infection and graft-versus-host disease are major complications of allogeneic .
Hematopoietic stem cell transplantation remains a dangerous procedure with many possible complications; it is reserved for patients with life-threatening diseases. As survival following the procedure has increased, its use has expanded beyond cancer, such as autoimmune diseases and hereditary skeletal dysplasia’s notably malignant infantile osteoporosis and mucopolysaccharidosis.