International Conference on Clinical and Medical Genetics September 21-22, 2017 Toronto, Canada

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance ofgenetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

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. Genetic disorders include

This is the analysis of chromosomes, proteins, and metabolites. Genetic testing for diseases can provide important information for diagnosing, treating and preventing illness. Genetic testing identifies the changes in chromosomes, genes, or proteins. These are performed on a sample of blood, hair, skin, amniotic fluid, or other tissue.

Genetic linkage analysis is a statistical method that is used to associate functionality of genes to their location on chromosomes. Neighboring genes on the chromosome have a tendency to stick together when passed on to offsprings. Therefore, if some disease is often passed to offsprings along with specific marker-genes , then it can be concluded that the gene(s) which are responsible for the disease are located close on the chromosome to these markers.

Genetic Probes is a fragment of DNA or RNA of variable length (usually 100-1000 bases long) which is radioactively labelled used in DNA or RNA samples to detect the presence of nucleotide sequences (the DNA target) that are complementary to the sequence in the probe. The probe thereby hybridizes to single-stranded nucleic acid (DNA or RNA) whose base sequence allows probe-target base pairing due to complementarity between the probe and target.

Genetic medicine is the integration and application of genomic technologies allows biomedical researchers and clinicians to collect data from large study population and to understand disease and genetic bases of drug response. It includes genome structure, functional genomics, epigenomics, genome scale population genomics, systems analysis, pharmacogenomics and proteomics. The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease.

Related Journals of Genetic Medicine                                                                                     

Cellular & Molecular Medicine, Translational Biomedicine, Biochemistry & Molecular Biology Journal, Cellular & Molecular Medicine , Electronic Journal of Biology, Molecular Enzymology and Drug Targets, Journal of Applied Genetics, Journal of Medical Genetics, Genetics in Medicine, Journal of Anti-Aging Medicine, Reproductive Medicine and Biology, Romanian journal of internal medicine

For thousands of years there were lot of questions about genetics and people followed different processes to produce hybrids of different plants and animals. But most of their trails failed as the actual mechanism behind it was unknown. Thereafter Mendel was the first to explain the concept of heredity after experimenting on pea plant (Pisum sativum) through his laws. He proposed Law of Segregation where only one allele pass from parent to offspring as the allele of parents gets separated Law of independent Assortment where different pairs of allele passes from parents independently, Law of Dominance where some alleles are dominant the remaining are recessive. Based on this, several hypotheses were proposed later.

Currently there are vast advancements in the field of genetics where researches are focusing on the different diseases caused by variations in genes and many institutions are investing in the research. For example, US government, along with NIH funded Human Genome project based on DNA sequencing technologies. Due to the development of new techniques in Bioinformatics there is a huge decrease in the price of genome sequencing, from $100 million to $1000. The involvement of genetics in heart diseases, cancer and other implications remained “far from clear”. There are possibilities of practicing human cloning, eugenics apart from these genetic advancements.

Right from the zygote to a developed individual every process is regulated by genes. Developmental genetics is concerned with the process in which genes regulate the development. It is the study of cell fate, cell determination and embryonic development. There are many theories proposed and among them differential gene expression is the most accepted one. The ability to produce an organism from cells is called totipotent, unipotent stem cells produce a family of related cells. Pluripotent and multipoint produce only few organs or tissues, but all these cells forms, a cell lineage whose differentiation can be done by a master control gene. Likewise immune cells are produced from bone marrow; B-cells are responsible for antibody production. By Invivo production of B-cells, antibody diversity can be achieved as process follows differential gene expression. The prenatal and newborn genetic testing market were $1.12 billion in 2012 and expected to grow $8.37 billion in 2019 at a CAGR of 26.9% from 2013 to 2019 globally.

Lipids are the major components of biological membranes as well as the metabolites of organisms. Lipids play crucial role in biology. Imbalance in the lipid molecules leads to numerous diseases like atherosclerosis, obesity, diabetes, and Alzheimer's disease. Lipidomics is a system-based study of all lipids, which aims at the analysis of lipids in the biological system. Lipidomics is the main tool for potential biomarker discovery, diagnosis the disease and to understand disease pathology mainly in the fields of neurodegeneration, psychiatry, oncology, metabolic diseases, and infectious diseases. The global biomarkers market was $29.3 billion in 2013 and is expected to grow $53.6 billion in 2018 at a CAGR of 12.8%.

Clinical metabolomics is the major and the most powerful tool to screen metabolites in the biological samples. These provide predictive and prognostic biomarkers which are useful to monitor disease states and to improve therapeutic levels. Discovery of biomarkers to differentiate diseases at molecular levels is a difficult task as the metabolite profile is related to the phenotype of an organism; metabolomics provide a better understanding of systemic diseases. Metabolomics is also practiced in crop breeding, toxicology, plant biotechnology. The market value for metabolomics was $712 million in 2012 and is expected to reach nearly $1.4 billion in 2017 at a CAGR of 14.2% globally.

Next Generation Sequencing is a novel method for sequencing DNA and RNA more rapidly, which has made the study of genomics easy. It is the most versatile tool for medical and biological research. The techniques involved are Illumina sequencing, Roche 454 sequencing, Ion torrent: proton sequencing, Solid sequencing. Illumina sequencing is based on DNA colonies or clusters that involves in the clonal amplification of DNA on a surface.454 pyro sequencing amplifies DNA in side water droplets in an oily solution. Ion torrent sequencing is based on using sequencing chemistry with semiconductor based detection system. It is based on detection of hydrogen ions used during polymerisation of DNA whereas solid sequencing involves sequencing by ligation. The NGS market reached $231.7 million in 2012 and $510.7 million in 2013 and is expected to reach $7.6 billion by 2018 with a CAGR of 71.6% globally.

There are millions of microorganisms that have a rapid impact on our health. They play a vital role in maintaining the health as well as in the onset of diseases. Genomics applies DNA sequencing methods and Bioinformatics to analyze the structure and function of genomes. It started from bacteriophage but was overtaken by bacterial genomics. Its applications were included in the fields of medicine, biotechnology and social sciences. Proteomics is the study of the structure and functions of proteins as they are the essential components of the various metabolic pathways of cells. It is more complicated when compared to genomic studies as it varies from cell to cell. Mass spectroscopy and microarray techniques are mostly used to study proteins presently.

The global market for DNA sequencing products and services in 2012 was $3.5 billion and $4.5 billion in 2013. It is expected to reach $11.7 billion by 2018 with a CAGR of 21.2%.

Regenerative biology involves the restoration or renewal of damaged genes, cells, tissues, organisms or ecosystem that is produced by some natural fluctuations. Regeneration is mediated by gene regulation and it may be complete (same as old tissue) or incomplete (fibrosis). The market value for tissue engineering and regeneration products was $55.9 billion in 2010 and $59.8 billion in 2011, and is expected to reach $89.7 billion by 2016 at a CAGR of 8.4% globally. According to the reports, the market value of regenerative medicine was about $2.5 billion in the US.

Stem cells are undifferentiated biological cells that undergo mitosis to produce more cells, which are found in multicellular organisms. They are of two types, embryonic and adult stem cells. The stem cell treatment was found to be a lifesaving treatment for the patients with solid tumors and blood disorders. Stem cells can be obtained from the umbilical cord after baby’s birth. Possibly they can also be obtained from peripheral blood and bone marrow. According to the reports, in US the availability of stem cell therapy was $15.2 million in 2007 and $16.5 million in 2008 and it is estimated to reach $11 billion by 2020.

Clinical epigenetics uses the techniques involved in molecular biology to detect the alterations in DNA methylation or histone modification to diagnose disorders produced by heritable defects in the gene expression. DNA methylation involves in the addition of methyl groups to adenine and guanine bases. DNA is useful for cell development and when methylation occurs on CpG dinucleotide where cytosine precedes guanine suppresses the gene regulation. The nucleosome consists of historians where the tails of histone protrude from nucleosome and therefore they can be modified. The chemical groups attract activating or suppressing complexes to chromatin, which affects its shape, making it more or less available for gene expression. Epigenetic enzyme marketing consists of DNA-modifying, RNA-modifying, Protein is modifying Enzymes which is expected to reach a high rate by 2019. Bisulfite conversion kits; ChIP- seq kits; RNA sequencing kits; whole genome amplification kits are some of the epigenetic kits among which ChIP-seq kits segment had the biggest share in 2014.The market value of epigenetics was $413.24 million in 2014, it is expected to reach a CAGR of 13.64% from 2014 to 2019 and it is estimated to grow $783.17 million by 2019 globally.

Oncogenomics is the study of the relationship between cancer and the genome of an individual. Its goal is to identify oncogenes for the diagnosis and treatment of cancer. Cancer is a genetic disease as it is caused by genetic variation in DNA.NIH offers about $7.4 billion on research related to genetics and about $5.8 on cancer related research. The various techniques used are DNA sequencing, microarray, digital karyotyping, bacterial artificial chromosome.

The American Cancer Society reported that among 1.5 million cases half a million die from the disease mostly of breast cancer, lung cancer, bladder cancer, leukemia. The expenditure on cancer care in 2010 was $125 billion and is estimated to reach $156 billion by 2020 in US.US occupies seventh place in breast cancer worldwide.

Clinical genomics is the use of genomic sequencing in clinical basis like for diagnosis, treatment of disease caused in patients. It is a new and rapidly changing field. The diseases like cystic fibrosis and sickle cell anaemia, which are caused by a single base pair change to DNA sequencing, these mutations can be corrected by CRISPR/ Cas technology.

Cas technology is based on genome editing which is proposed by Editas Medicine with an investment of about $43million. Researchers adopted this technique as most of the microbes use protein and RNA’s against invading viruses. The technique involves the editing of stretches in DNA and also to edit single base pairs of the human genome. It was also believed to cure untreatable diseases possibly.

While the evidence base is still growing, genetic services industry leaders strongly believe that emerging testing capabilities will have significant clinical impact in the future. Many expressed opinions that genetic services will make significant contributions to prediction, detection, and care selection, leading to better quality care and increased affordability. Available genetic tests and genomic applications, can be categorized according to their clinical method of use across prediction, detection, and care selection. The prenatal and newborn genetic testing market were $1.12 billion in 2012 and expected to grow $8.37 billion in 2019 at a CAGR of 26.9% from 2013 to 2019 globally.

Over the past 2 decades, investigators in the field of cardiac genetics have evolved a complex understanding of the pathophysiological basis of inherited cardiac diseases, which predispose individuals to sudden cardiac death. In this Review, we describe the current status of gene discovery and the associations between phenotype and genotype in the cardiac channelopathies and cardiomyopathies. The various indications for genetic testing and its utility in the clinic are assessed in relation to diagnosis, cascade testing, guiding management, and prognosis. Some common problems exist across all phenotypes: the variable penetrance and expressivity of genetic disease, and the difficulty of assessing the functional and clinical effects of novel mutations.