World Congress on Human Genetics November 07- 08, 2016 Barcelona, Spain

Genetic 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). 

Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetic, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.

Genes can be the common factor of the qualities of most human-inherited traits. Study of human genetics can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. This article describes only basic features of human genetics

The study of genetics at the level of the basic building blocks of cells and at the DNA level. Cells are as complex as they are tiny and much is still unknown about the inner workings of these building blocks of life. If you'd like to log hours in a lab and use advanced equipment to help advance the understanding of how cells work, studies in cellular and molecular biology could be for you. Biology is the study of living things, and cellular or molecular biology studies living things on the smallest possible scale. To prepare for a career in cellular or molecular biology, individuals must have a strong understanding of chemistry, statistics and physics. The research of cellular and molecular biologists is integral to things like the development of new medications, the protection of aquatic ecosystems and the improvement of agricultural products. 

The goal of our previous discussions in this class has been to understand the inheritance of a single trait, a trait that may be controlled by one, a few, or many genes. The goal of population genetics is different. Rather than studying the inheritance of a trait, population genetics attempts to describe how the frequency of the alleles which control the trait change over time. To study frequency changes, we analyze populations rather than individuals. Furthermore, because changes in gene frequencies are at the heart of evolution and speciation, population and evolutionary genetics are often studied together.

The goal of our previous discussions in this class has been to understand the inheritance of a single trait, a trait that may be controlled by one, a few, or many genes. The goal of population genetics is different. Rather than studying the inheritance of a trait, population genetics attempts to describe how the frequency of the alleles which control the trait change over time. To study frequency changes, we analyze populations rather than individuals. Furthermore, because changes in gene frequencies are at the heart of evolution and speciation, population and evolutionary genetics are often studied together.

Clinical Genetics is the medical specialty which provides a diagnostic service and "genetic counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. The aim of Genetic Services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. In addition a large number of individuals with birth defects and/or learning disabilities are referred and investigated for genetic factors. 

Genomics is a discipline in genetics that applies recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyze the function and structure of genomes (the complete set of DNA within a single cell of an organism).Advances in genomics have triggered a revolution in discovery-based research to understand even the most complex biological systems such as the brain. The field includes efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping. 

Cancer is a genetic disorder in which the normal control of cell growth is lost. 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 genes regulate cellular differentiation and suppression of proliferation. 

The term epigenetics refers to heritable changes in gene expression (active versus inactive genes) that does not involve changes to the underlying DNA sequence; a change in phenotype without a change in genotype. This in turn affects how cells read the genes. Epigenetic change is a regular and natural occurrence but can also be influenced by several factors including age, the environment/lifestyle, and disease state. Epigenetic modifications can manifest as commonly as the manner in which cells terminally differentiate to end up as skin cells, liver cells, brain cells, etc. Or, epigenetic change can have more damaging effects that can result in diseases like cancer. At least three systems including DNA methylation, histone modification and non-coding RNA associated gene silencing are currently considered to initiate and sustain epigenetic change. New and ongoing research is continuously uncovering the role of epigenetics in a variety of human disorders and fatal diseases.The term epigenetics refers to heritable changes in gene expression (active versus inactive genes) that does not involve changes to the underlying DNA sequence; a change in phenotype without a change in genotype. This in turn affects how cells read the genes. Epigenetic change is a regular and natural occurrence but can also be influenced by several factors including age, the environment/lifestyle, and disease state. Epigenetic modifications can manifest as commonly as the manner in which cells terminally differentiate to end up as skin cells, liver cells, brain cells, etc. Or, epigenetic change can have more damaging effects that can result in diseases like cancer. At least three systems including DNA methylation, histone modification and non-coding RNA associated gene silencing are currently considered to initiate and sustain epigenetic change. New and ongoing research is continuously uncovering the role of epigenetics in a variety of human disorders and fatal diseases.

Molecular biology is a branch of science concerning biological activity at the molecular level.The field of molecular biology overlaps with biology and chemistry and in particular, genetics and biochemistry. A key area of molecular biology concerns understanding how various cellular systems interact in terms of the way DNA, RNA and protein synthesis function.The specific techniques used in molecular biology are native to the field but may also be combined with methods and concepts concerning genetics and biochemistry, so there is no big distinction made between these disciplines.

Immunogenetics or immungenetics 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.

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.

Transplantation is the transfer (engraftment) of human cells, tissues or organs from a donor to a recipient with the aim of restoring function(s) in the body. When transplantation is performed between different species, e.g. animal to human, it is named xenotransplantation. Development of the field of organ and tissue transplantation has accelerated remarkably since the human major histocompatibility complex (MHC) was discovered in 1967. Matching of donor and recipient for MHC antigens has been shown to have a significant positive effect on graft acceptance. The roles of the different components of the immune system involved in the tolerance or rejection of grafts and in graft-versus-host disease have been clarified. These components include: antibodies, antigen presenting cells, helper and cytotoxic T cell subsets, immune cell surface molecules, signaling mechanisms and cytokines that they release. 

Many of the stem cells being studied are referred to as pluripotent, meaning they can give rise to any of the cell types in the body but they cannot give rise on their own to an entirely new body. (Only the earliest embryonic cells, which occur just after fertilization, can give rise to a whole other organism by themselves.) Other stem cells, such as the ones found in the adult body, are multipotent, meaning they can develop into a limited number of different tissue types. One of the most common stem cell treatments being studied is a procedure that extracts a few stem cells from a person's body and grows them in large quantities in the laboratory—what scientists refer to as expanding the number of stem cells. 

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

Pharmacogenetics is the study of inherited genetic differences 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.

Recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the growing role of hospital information technology (IT) systems and electronic health records, amass ever-increasing amounts of data before human genetics scientists and clinicians. However, they have ever-improving tools to analyze those data for research and clinical care. Correspondingly, the field of bioinformatics is turning to research questions in the field of human genetics, and the field of human genetics is making greater use of bioinformatic algorithms and tools. The choice of "Bioinformatics and Human Genetics" as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in human genetics. Experts from among the attendees of the Paris 2010 Human Variome Project symposium provide a survey of some of the "hot" computational topics over the next decade. These experts identify the promise-what human geneticists who are not themselves bioinformaticians stand to gain-as well as the challenges and unmet needs that are likely to represent fruitful areas of research

Anthropology is the study of humanity.Its main subdivisions are social and cultural anthropology, which describes the workings of societies around the world, linguistic anthropology, which investigates the influence of language in social life, andbiological or physical anthropology.

Driven by chemistry but increasingly guided by pharmacology and the clinical sciences, drug research has contributed more to the progress of medicine during the past century than any other scientific factor. Improving the science of drug development and regulation is important in fulfilling the public health. The advent of molecular biology and, in particular, of genomic sciences is having a deep impact on drug discovery. Emphasis is placed on the contrast between the academic and industrial research operating environments, which can influence the effectiveness of research collaboration between the two constituencies, but which plays such an important role in drug innovation. The strategic challenges that research directors face are also emphasized

The UK is officially the 'fattest' country in Europe, with approximately 1 in 5 adults overweight and one in every 15 obese. Over the next 20 years, the number of obese adults in the country is forecast to soar by a staggering 73% to 26 million people. According to health experts, such a rise would result in more than a million extra cases of type 2 diabetes,heart disease and cancer. Obesity is also no longer a condition that just affects older people, although the likelihood does increase with age, and increasing numbers of young people have been diagnosed with obesity.