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3rd World Congress on Human Genetics & Genetic Disorders, will be organized around the theme “Novel Approaches to Unraveling the Human Genome and Genetic Disorders”

Human Genetics congress 2017 is comprised of keynote and speakers sessions on latest cutting edge research designed to offer comprehensive global discussions that address current issues in Human Genetics congress 2017

Submit your abstract to any of the mentioned tracks.

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Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including:  classicalgenetics,  cytogenetic,  molecular geneticsbiochemical geneticsgenomicspopulation geneticsdevelopmental geneticsclinical 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.

  • Track 1-1Human Genome sequencing
  • Track 1-2Human Genome mapping

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. Individuals identified through childhood or pregnancy screening programmed also requires genetic services. In the future, as the genetic contributions to common later-onset disorders such as diabetes and coronary heart disease are identified, genetic services may be required for those at high risk. Testing for genetic factors that affect drug prescribing will also increasingly become an important activity.

  • Track 2-1Chromosomal disorders
  • Track 2-2Contiguous gene/microdeletion disorders
  • Track 2-3Multiple congenital anomaly disorders
  • Track 2-4Single gene/mendelian disorder
  • Track 2-5Utilization of clinical testing/screening

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.

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. he term immunogenetics is based on the two words immunology and genetics, and is defined as “a sub-category of genetics focussing on the genetic basis of the immune reaction” according to MeSH. Genetics (based on Greek γενεά geneá "descent" and γένεσις génesis "origin") is the science researching the transfer of characteristics from one generation to the next. The genes of an organism (strands of DNA) and the transfer of genes from the parent to the child generation of an organism in the scope of possible variations are the basis of genetics.

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.

  • Track 5-1Linkage disequilibrium/recombination
  • Track 5-2Population isolates and founder mutations
  • Track 5-3Mutation and polymorphism
  • Track 5-4Natural selection and adaptation
  • Track 5-5Admixture and ancestry analysis

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). 

  • Track 6-1Chromosome structure
  • Track 6-2Copy number/structural genomic variation
  • Track 6-3 Cytogenetic studies
  • Track 6-4Molecular cytogenetic technologies (eg, FISH, microarrays, etc.)

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.

  • Track 7-1DNA methylation
  • Track 7-2Histone modification
  • Track 7-3Imprinting
  • Track 7-4 X-inactivation

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.

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.

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.

  • Track 10-1Candidate genes/regions and fine mapping
  • Track 10-2Functional studies of associated variants or loci
  • Track 10-3Genome-wide association studies
  • Track 10-4Implementation of individualized medicine
  • Track 10-5Sequencing studies/rare variants
Most genetic disorders, unfortunately, cannot be cured. The available treatments help manage the diseases caused by abnormal genes, while the treatment itself and its efficacy vary from one type of disorder to another. Genetic researchers, however, are very optimistic about gene therapy which has shown promising results in clinical trials. However, it remains unavailable to the wider population and at the moment of writing, gene therapy is used only for clinical trials.
Gene therapy is hoped to cure or improve treatment of genetic disorders by replacing the mutated or malfunctioned gene, manipulating or turning off the gene causing the disease or stimulate other bodily functions to fight the disease. The most common method is replacement of a malfunctioned or sometimes a missed gene with a healthy one. However, gene therapy poses a risk of potentially serious complications, in the first place due to the method that is used to insert the “new“ genes – the use of viruses. These have the ability to identify certain cells as well as to transmit the genetic material into the cells containing malfunctioned or missed gene. For that reason modified viruses are used as vectors or carriers of the healthy genes. This method of insertion of healthy genes may not seem problematic at a first glance but it can cause cause potentially serious complications as already mentioned earlier.
  • Track 11-1Drug treatments
  • Track 11-2Enzyme replacement therapy
  • Track 11-3Gene therapy
  • Track 11-4RNAi therapies

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. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the genome. In contrast, the investigation of the roles and functions of single genes is a primary focus of molecular biology or genetics and is a common topic of modern medical and biological research. Research of single genes does not fall into the definition of genomics unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.

  • Track 12-1Molecular basis of an inborn error

Genetic disorder is a genetic problem which is associated with the abnormalities in the genome; it may or may not be heritable. For example, cancer can be caused by some inherited genes or by new mutations or it may be environmental cause in some patients. There are many genetic disorders among them Single-gene disorder is the one which is the resultant of a single mutated gene. It includes diseases like Cystic fibrosis, Sickle-cell-anemia, Polycystic kidney disease, Hemophilia-A, Albinism. Multifactorial diseases include diabetes and heart diseases. Most of the genetic disorders can be identified at birth or in childhood like Huntington’s disease. Treatment for these genetic disorders is still a battle where around 1800 clinical trials have been completed. Presently Gene therapy is followed in which a new gene is introduced to a patient which is very complicated. The market value of products to treat genetic disorders was $12.8 billion in 2009 and $17.3 in 2014 globally.

  • Track 13-1Biochemical basis of disease
  • Track 13-2Characterization of new disorders
  • Track 13-3Natural history of known disorders
  • Track 13-4Newborn screening

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).

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.

  • Track 16-1Novel bioinformatics/computational tools and methods
  • Track 16-2Improvements on existing bioinformatics/computational tools or updated versions
  • Track 16-3Improvements on existing bioinformatics/computational tools or updated versions
  • Track 16-4Improvements on existing bioinformatics/computational tools or updated versions
  • Track 16-5Use of existing bioinformatic methods for novel discovery
  • Track 16-6Methods/tools for variant calling in human genomes
  • Track 16-7Genome sequencing and assembly
  • Track 16-8Methods for data integration