Journal of Genetic Disorders

About Journal of Genetic Disorders

Journal of Genetic Disorders is an official Open Access, peer-reviewed, scholarly research journal which aims to share the latest and advance information, studies and researches related to causes, diagnosis and treatments of molecular and genetic disorders. It publish the most complete and reliable source of information in the mode of original articles, review articles, case reports, short communications, etc. covering all the aspects of Chromosomal Abnormalities, Genetic Brain Disorders, Molecular Genetics, Mutations, Chromosomes, Genes and DNA variations, Gene Therapy Genetic medicines etc.

This scholarly journal is using Editorial Manager® System for online manuscript submission, review and tracking. Editorial board members of 'Journal of Genetic Disorders' or outside experts review manuscripts; at least two independent reviewer’s approval followed by the editor is required for the acceptance of any citable manuscript.

Submit your manuscript online http://www.editorialmanager.com/imedpubjournals/default.aspx

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Whole Genome Sequencing

Whole genome sequencing reveals the complete DNA make-up of an organism, enabling us to better understand variations both within and between species.It is one of the major technique used to test genetic disorders.Due to some new or inherited genetic mutations, our genes can cause a disease or increase risk for disease.Whole genome sequencing helps in testing whether the person have a genetic disorder or not and identify unique variations in our genome. During whole genome sequencing, researchers collect a DNA sample and then determine the identity of the 3 billion nucleotide that compose the human genome.In the future, whole genome sequencing may enable everyone to develop a personalized treatment plan.

Rare Genetic Disorders

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome due to sudden change in gene sequences which results in several severe disease, especially a condition that is present from birth.Most genetic disorders are quite rare and affect one person in every several thousands or millions. Cystic Fibrosis is the most common genetic disorder. It occurs only when both parents are carriers.Genetic disorder may be heridatory or caused due to sudden change in DNA sequences. Some rare genetic disorders are: Huntington’s Disease,Down syndrome, Duchenne Muscular Dystrophy etc.

Clinical Manifestations of Genetic Disorders

A genetic disorder is a genetic problem caused by one or more abnormalities in the genomic structures or Gene arrangement especially a condition that is present from birth called congenital disease. activating mutations of LH receptor gene presents with precocious puberty in boys results in raised activity of the LH axis which is analogous to the presentation of LH secreting pituitary adenomas is an example of clinical manifestation of genetic disorder.Examples of multifactorial inheritance are Alzheimer's disease, heart disease,Obesity,Diabetes arthritis, Chromosomes, distinct structures made up of DNA and sequences of amino acids, chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. Abnormalities in chromosomes occurs due to a problem with cell division. Which causes due to chemical changes.or environmental changes.examples like uv radiations which results in insertion , duplication or deletion in DNA sequences. Examples are Down syndrome, Turner syndrome.

Chromosomal Aberrations

A chromosome abnormality, disorder, anomaly, aberration, or mutation is an absence, extra, or irregular portion of chromosomal DNA. The three major single chromosome mutations; deletion (1), duplication (2) and inversion The two major two chromosome mutations; insertion (1) and Translocation Chromosome abnormality mainly occurs at the time of cell division during the process of Mitosis and Meosis.

There are many types of Chromosomal abnormalities that are mainly catagorised in two basic catagories.

  1. Numerical abnormalities
  2. Structural abnormalities

Genetic Mutation

Genetic mutation simply means duplication of large sections of DNA by the process called genetic recombination.and they are the main cause of diversity among organism. If mutations occur in non-germline cells, then these changes can be categorized as somatic mutations. Somatic mutation only effects the particular body while in case of genetic mutation , Genetic variation is useful because it helps populations change over time. Variations that help an organism survive and reproduce are passed on to the next generation.

Effects of Mutation

If a mutation occurs in a non-coding region then it will have little or no effect. Even if it occurs in a coding region - for example a region that contains codes for amino acids used to build vital proteins - it might not have an adverse effect. For example, a substitution that turns CUU into CUA in RNA molecule will have no effect, since both are codes for the same amino acid (leucine).

GeneTherapy

Gene therapy is a method of curing the disease at genetic level.It is very helpful in treating some genetic disorders.Cells, tissue, or even whole individuals (when germ-line cell therapy becomes available) modified by gene therapy are considered to be transgenic or genetically modified. Gene therapy is the introduction of genes into existing cells to prevent or cure a wide range of diseases.It is very important method or way to cure diseases at genetic level.Cystic fibrosis is a best disease to cure by the help of gene therapy-based treatment.

Gene Editing Technology

Gene editing or Genome editing is a type of genetic engineering technology in which particular DNA is inserted, duplicated or replaced in the genome of living organism with the help of molecular scissors called engineered nucleases .Four different types of nucleases are used : meganucleases, zinc finger nucleases (ZFNs), transcription activator-like effector-based nucleases interspaced short palindromic repeats (CRISPR)-Cas system. genome editing through cell line engineering in human cancer cells and IPSCs, and also in mammalian model organisms such as knockout mice and rats is done in in vitro conditions. site-directed mutagenesis, recombination based methods DNA sequence of the target organism is modified by reverse genetic analysis technique.

Genetic Screening

Genetic screening is the testing of chromosomal DNA,amino acids, proteins to detect the genetic or gene level disease related genotypes, mutations, phenotypes, or karyotypes , for any clinical purpose .It is very helpful in diagonising a persons future health condition. Genetic testing, also known as DNA testing, allows the determination of the genetic diagnosis of vulnerabilities to inherited diseases. .It can provide information about a person genomic structure and their whole genome sequences. In humans, genetic testing can be used to determine a child's parentage (genetic mother and father) or in general a person's ancestry or biological relationship between other people.

Polygenic Diseases

Genetic disorder which results from the combined action of alleles of more than one gene (e.g., heart disease, diabetes, and some cancers). Although such disorders are inherited, they depend on the simultaneous presence of several alleles; thus the hereditary patterns usually are more complex than those of single-gene disorders. diabetes-a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst Other Examples of polygenic diseases are:Heart disease, Hypertension, Autoimmune disease, Asthma, Osteoporosis,Obesity,Cancer,Schizophrenia etc.

Depurination is a chemical reaction of deoxy purine molucules in which the β-N-glycosidic bond is cleaved hydrolytically releasing a nucleic base, adenine or guanine,. The second product of depurination of deoxyribonucleosides and ribonucleosides is sugar, 2’-deoxyribose and ribose, respectively. More complex compounds containing nucleoside residues, nucleotides and nucleic acids, also suffer from depurination. Depurination can produce transversion mutations.

Mechanisms which causes DNA Damage which results in depurination:

1. Hydrolysis (Deamination and Depurination) 2. Alkylation 3. Oxidation 4. Radiation Ractions like ultraviolet rays etc 5. Base analogue and intercalating agents.

DNA Depurination

Depurination is a chemical reaction of deoxy purine molucules in which the β-N-glycosidic bond is cleaved hydrolytically releasing a nucleic base, adenine or guanine,. The second product of depurination of deoxyribonucleosides and ribonucleosides is sugar, 2’-deoxyribose and ribose, respectively. More complex compounds containing nucleoside residues, nucleotides and nucleic acids, also suffer from depurination. Depurination can produce transversion mutations.

Mechanisms which causes DNA Damage which results in depurination:

1. Hydrolysis (Deamination and Depurination) 2. Alkylation 3. Oxidation 4. Radiation Ractions like ultraviolet rays etc 5. Base analogue and intercalating agents.

Prognosis

The coarse or duration of a medical condition of a patient is called Prognosis. A complete prognosis includes the expected duration, function, and description of the course of the disease, such as progressive decline, intermittent crisis, or sudden, unpredictable crisis. Prognosis is a prediction of the chance of recovery or survival from a disease. Most medicos give a prognosis based on criteria of how a disease acts in studies on the general population. Prognosis can vary with lung cancer which depends on several factors, such as the stage of disease diagnosis, type of cancer, and even gender, duration etc.

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