5^th World Congress on HUMAN GENETICS September 14-15, 2018 Berlin, Germany

Gene therapy is an experimental technique that uses genes or simply nucleic acid polymers to treat or prevent disease into a patient's cell as a drug for disease treatment.  In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery.Gene therapy is a way to fix a genetic problem at its core or source. The polymers are either translated into proteins which interfere with the target gene expression or else they could possibly correct genetic mutations.

The most common form of gene delivery is in the form of DNA that encodes the functional therapeutic gene to replace the target mutated gene. the polymer molecules are packaged inside a vector which  carries the molecules inside and helps in their integration. Gene therapy is a very effective but debatable form of treatment of genetic disorders depending upon their extent of viability and social and ethical acceptance.

Genetic counseling is the process by whixch an individual or individuals at risk of any inherited disorders are advised and made aware of the consequences and nature of the disorder , as well as te probability of developing or transmitting it.

Stem cells are undifferentiated mass of cells which have the potential to differentiate into specialized cells and can didvide via mitosis to produce more stem cells. Stem cells are normally found in multicellular organisms. There are different kinds of stem cells which ge nerate at different points of life and growth and at different places. These include embryonic stem cells which are generated only at the earliest stages of development, and a swell as some tissue specific stem cells which are generated at the time of fetal development.

Stem cell therapy is the way of using stem cells for treating as well as preventing any disease or disorder. Bone marrow transplantation is the most widely used stem cell therapy, but some stem cell treatment using umbilical cord blood are also in practice.  

Genomic Medicine is a branch of genomics which allows the next generation genomic techniques to be used by the clinicians, biomedical researchers and the heathcare institutions to deliver healthcare with modern human genetics and genomics to the people. The  genomic medicine reasearch  branches out to cover many disciplines of biology including oncology, cardiology, pediatrics, endocrinology and respiratory medicine.

The delivery of proper modernized healthcare is insured by the field of molecular diagnostics, which makes use of a collection of techniques used to analyze biological markers in the genome and proteome- the individual's genetic code and how their cells express their genes as proteins by applying molecular biology methods to medical testing.

Cancer is a genetic disorder in which the normal control of cell growth is lost. Oncogenomics or cancer genetics is now one of the fastest expanding medical specialties. At the molecular level, cancer is caused by mutation(s) in DNA, which result in aberrant cell proliferation. Most of these mutations are acquired and occur in somatic cells. However, some people inherit mutation(s) in the germ line. The mutation(s) occur in two classes of cellular genes: oncogenes and tumor suppressor genes.

Under normal conditions, tumor suppressor genesregulate cellular differentiation and suppression of proliferation. Mutations in these genes result in unchecked cellular proliferation resulting in tumors with abnormal cell cycles and tumor proliferation. The tumor suppressor genes contribute to cancer by the inactivating of loss of function mutation.

The ability to precisely and accurately change almost any part of any genome, even in complex species such as humans, may soon become a reality through genome editing. But with great power comes great responsibility – and few subjects elicit such heated debates about moral rights and wrongs. Genome editing offers a greater degree of control and precision in how specific DNA sequences are changed. It could be used in basic science, for human health, or improvements to crops. There are a variety of techniques but clustered regularly inter-spaced short palindromic repeats, or CRISPR, is perhaps the foremost.

Ethical concerns over genetic modification are not new, particularly when it comes to humans. First there is no clear consensus whether genome editing is just an incremental step towards improving the qualit6y of genes or if it has nay desruptive effect on the genome.Second, there are significant ethical concerns over the potential scope and scale of genome editing modifications. As more researchers use CRISPR to achieve more genome changes, the implications shift. The consideration of a technology that is rarely used and then only in specific cases will differ from one that is widely used and put to all sorts of uses. Germ-line alternations pose much greater ethical concerns. A mistake could harm future individuals by placing that mistake in every cell. Hence as this technology is well permoising and has opened new doors towars human wellbeing, on the other hand it also makes us question the legitimacy of the entire idea. 

Molecular Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes. It includes routine analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH). Chromosomes were first observed in plant cells by Karl Wilhelm von Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, von Waldeyer in 1888.

The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (the karyotype) was the carrier of the genes. Levitsky seems to have been the first to define the karyotype as the phenotypic appearance of the somatic chromosomes, in contrast to their genic contents. Investigation into the human karyotype took many years to settle the most basic question: how many chromosomes does a normal diploid human cell contain? In 1912, Hans von Winiwarter reported 47 chromosomes in spermatogonia and 48 in oogonia, concluding an XX/XO sex determination mechanism.  Painter in 1922 was not certain whether the diploid number of man was 46 or 48, at first favoring 46. He revised his opinion later from 46 to 48, and he correctly insisted on man having an XX/XY system. Considering their techniques, these results were quite remarkable.

Congenital Disorder, also known as congenital disease, birth defect or anomaly  is a condition existing at or before birth regardless of cause. Of these diseases, those characterized by structural deformities are termed "congenital anomalies" and involve defects in a developing fetus. Birth defects vary widely in cause and symptoms. Any substance that causes birth defects is known as a teratogen. Some disorders can be detected before birth through prenatal diagnosis (screening).

Birth defects are present in about 3% of newborns in USA. Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990. The type with the greatest numbers of deaths are congenital heart disease (323,000), followed by neural tube defects (69,000).

Neurodevelopmental Disorders are impairments of the growth and development of the brain or central nervous system. A narrower use of the term refers to a disorder of brain function that affects emotion, learning ability, self-control and memory and that unfolds as the individual grows. The term is sometimes erroneously used as an exclusive synonym for autism and autism spectrum disorders. The development of the brain is orchestrated, tightly regulated, and genetically encoded process with clear influence from the environment. This suggests that any deviation from this program early in life can result in neurodevelopmental disorders and, depending on specific timing, might lead to distinct pathology later in life. Because of that, there are many causes of neurodevelopmental disorder, which can range from deprivation, genetic and metabolic diseases, immune disorders, infectious diseases, nutritional factors, physical trauma, and toxic and environmental factors. Some neurodevelopmental disorders—such as autism and other pervasive developmental disorders—are considered multifactorial syndromes (with many causes but more specific neurodevelopmental manifestation).

Clinical epigenetics is the application of molecular biology techniques detecting alterations in DNA methylation or histone modification to diagnose or study disorders characterized by heritable defects in the expression of a gene or genome. Applications include Rett syndrome, disorders of imprinting, uniparental inheritance of chromosomes and chromose segments, and somatic epigenetic anomalies in cancers.