Charcot Marie Tooth.

Image Specificity. Neurology: Neurology. Charcot – Marie – Tooth disease (CMT) is a peripheral nervous system's inherited motor and sensory neuropathy characterized by a gradual loss of muscle tissue and touch sensation in various parts of the body. A group of hereditary disorders in the arms and legs which harm the nerves. Charcot-Marie-Tooth is a degenerative nerve condition usually arising in puberty or early adulthood. Symptoms include muscle fatigue, reduced muscle strength, decreased sensitivity, hammer toes and high arches. Physiotherapy, and physical therapy are the primar... Read More

Angelman disorder.

Image Angelman syndrome (AS) is a genetic disease that affects the nervous system most of all. Symptoms include a small head with a distinctive facial appearance, serious intellectual disability, cognitive disability, speech difficulties, and difficulties with balance with movement, hallucinations, and issues with sleep. Children tend to have a happy personality and have a special interest in water. The symptoms are usually noticeable within a year. Angelman syndrome is caused by a lack of function of a part of the chromosome 15 inherited from a mother of a person. Most of the time, this is due t... Read More

Albinism is a congenital disorder.

Image Albinism is a congenital condition characterized by the complete or partial absence of pigment in the skin, hair, and eyes in humans. There are a variety of vision disorders associated with albinism, such as photophobia, nystagmus, and amblyopia. Lacking skin pigmentation makes sunburn and skin cancers more susceptible. Albinism can be associated with defects in the transport of melanin granules in rare cases such as the Chédiak – Higashi syndrome. This also affects important granules that are present in immune cells which lead to increased susceptibility to infection. Albinism... Read More

Congenital adrenal hyperplasia the genetic disease.

Image Congenital adrenal hyperplasia is one of many autosomal recessive diseases arising from gene mutations for enzymes mediating biochemical steps of mineralocorticoids, glucocorticoids or sex steroids formed by the adrenal glands (steroidogenesis) from cholesterol. Most of these conditions include excessive or defective sex steroid activity, and can alter the development of primary or secondary sex characteristics in some babies, children or adults affected. Each type of CAH has a particular defective gene associated with it. The most common form (90–95 per cent of cases) is the 21-hydro... Read More

Apert syndrome in newborns.

Image Apert syndrome is a type of acrocephalosyndacty, a congenital condition which is characterized by head, face, hands, and feet malformations. It is classified as a branchial arch syndrome which affects the first branchial (or pharyngeal) arch, the maxilla precursor, and mandible. Disturbances in the formation of the branchial arches produce permanent and widespread effects in fetal development. In embryology, the hands and feet have selective cells which die in a process called selective cell death, or apoptosis, which causes digit separation. Selective cell death does not occur in the case ... Read More

Poliosis circumscripta a genetic disorder.

Image : Poliosis is the decrease or absence of melanin (or color) in head hair, eyebrows, eyelashes, or any other hairy region. When it affects hair immediately above the forehead it is popularly known as white forelock. Single or less commonly, several white patches on the hair may cause this condition. Some mistake those white patches for simple marks of birth. In poliosis, the hair bulbs of infected hair follicles contain reduced or absent melanin; skin melanocytes are generally not infected. Poliosis occurs in various hereditary syndromes, including piebaldism, Waardenburg syndrome, type I ne... Read More

Waardenburg syndrome.

Image Waardenburg syndrome is a rare genetic disorder characterized by at least some degree of congenital hearing impairment and defects in pigmentation that can include bright blue eyes (or one blue eye and one brown eye), white forelock, or light skin patches. The syndrome is caused by mutations in some of several genes that influence neural crest cell division and migration during embryonic development (although some of the genes involved also influence the neural tube). Waardenburg's syndrome has several different forms with some symptom variations, and symptoms can vary among those of th... Read More

Gene therapy for correction of some genetic disorder.

Image Gene therapy (also known as human gene transfer) is a scientific area that focuses on using the medicinal injection of nucleic acid into the cells of a patient as a medication for treating disease. Solutions to medical challenges, such as the eradication of reservoirs of latent human immunodeficiency virus (HIV) and the correction of the mutation causing sickle cell disease, can soon become tangible .Not all of the medical treatments that change the genetic makeup of a patient can be called gene therapy. In general, bone marrow transplants and organ transplants have been found to introduce ... Read More

Hemophilia inheritance generation after generation.

Image A medical disorder in which the blood's capacity to clot is greatly impaired, causing the patient to bleed excessively from only a minor injury. Usually the disorder is caused by an inherited lack of a coagulation factor, most often factor VIII. It is a condition where blood usually doesn't clot. After any injury or damage, excessive bleeding (external and internal) happens when blood can't clot properly. Symptoms include several large or deep bruises in the urine or stool, joint pain and swelling, unexplained bleeding and blood. Treatment requires doses of plasma or a clotting ... Read More

Down syndrome the extra genetic material.

Image Down's syndrome is a genetic condition caused when chromosome 21 triggers irregular cell division to produce extra genetic material. Down's syndrome causes distinct facial appearance, mental disability, and delays in growth. This can contribute to thyroid or heart disease. There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism. Early intervention services are effective in treating Down's syndrome, through a team of clinicians and special educators who can handle the particular condition of each child. Share your comments on topic Email u... Read More

Phenylketonuria in babies and adults

Image Phenylketonuria (PKU) is a genetic disease inherited from the parents of a person. This is due to mutations in the PAH gene resulting in low levels of the phenylalanine hydroxylase enzyme. This results in dietary phenylalanine rising to potentially harmful levels. It is autosomal recessive, indicating that for the disease to evolve, both copies of the gene have to be mutated. There are two main forms, classic PKU and variant PKU, depending on whether any enzyme activity remains. Those with one copy of the mutated gene usually have no symptoms. Babies should have a special formula with a sma... Read More

Bone marrow transplantation.

Image Spongy tissue between some of your bones, such as the hip and thigh bones is the bone marrow. It has stem cells. The stem cells will grow into the red blood cells that carry oxygen through your body, white blood cells that battle infections, and blood clotting platelets that help. A bone marrow transplant is a medical procedure performed to replace bone marrow that has been damaged or destroyed by disease, infection, or chemotherapy. The process involves transplanting stem cells from the blood, which migrate to the bone marrow where new blood cells are formed and new marrow development enco... Read More

Amyotrophic lateral sclerosis

Image ALS causes a slow weakening of the motor neurons, and then death. Motor nerves spread through the entire body from the brain to the spinal cord to muscles. They stop sending signals to the muscles when motor neurons are impaired, so that the muscles can't function. In 5% to 10% of citizens ALS is hereditary. ALS is the most common degenerative disease of motor neuron system. While ALS is incurable and fatal, care may prolong the duration and positive quality of life for patients, with median survival of 3 years. Drugs and therapy can slow down ALS and minimize pain, but there is no cure... Read More

Application of single cell epigenomics to cancer research and emerging techniques in the field.

Image Epigenomics encompasses studies of the chemical modifications of genomic DNA and associated histones, interactions between genomic DNA sequences and proteins, the dynamics of the chromosomal conformation, the functional relationships between these epigenetic events, and the regulatory impacts of these epigenetic events on gene expression in cells. In comparison to current techniques that are only capable of characterizing average epigenomics features across bulk cell ensembles, singlecell epigenomics methodologies are emerging as powerful new techniques to study cellular plasticity and hete... Read More

STUDY OF DNA Probe

Image DNA probes and sample DNAs or RNAs are capable of hybridizing each other through the complementary base-pairing and result in double-stranded hybrid formation. The strength of DNA probe hybridization to sample molecules is determined by the stability of the hybrid duplex formed. The other parts of each sample molecule, which is usually longer than DNA probe, remains on either side of the hybrid duplex and does not affect the hybridization strength since they have no interactions with the probe. The formed hybrid duplexes may be melted into single-stranded random coils by elevating temperatu... Read More

Electroblotting

Image Blotting is a technique for the electrophoretic transfer of DNA, RNA or protein to a suitable membrane. The method most commonly used for the electrotransfer of proteins to nitrocellulose is that reported by Towbin et al. (1979). This technique was patented in 1989 by William J. Littlehales under the title "Electroblotting technique for transferring specimens from a polyacrylamide electrophoresis or like gel onto a membrane." Transfer of the proteins can be carried out using several methods such as vacuum, capillary or electric field. Electroblotting is by far the most wide-spread... Read More

Molecular Cloning

Image Molecular cloning is an essential technique to create DNA-based experimental tools for expression in bacterial or mammalian cells. Examples of such DNA constructs include a promoter element fused to a reporter gene or a cDNA sequence under the control of a ubiquitous promoter. Molecular cloning entails the preparation of the vector and insert DNAs, ligation of the insert into the vector, transformation of competent E. coli, and identification of positive clones Traditionally, molecular cloning is defined as the isolation and amplification of a specific DNA fragment. Most of these fragments ... Read More

Introduction to the Molecular Recognition and Self-Assembly Special Feature

Image Molecular recognition is a mature branch of chemical science, and why shouldn't it be? Decades of studies in physical organic chemistry have defined and evaluated the weak intermolecular forces involved when 2 molecules encounter each other. Every bimolecular reaction, whether it occurs in the gas phase, dilute solution, or an enzyme's interior, begins with a recognition event. It is an apt time to explore recognition in a larger context, that of multicomponent assemblies, and this special issue of 14 contributions is a beginning Molecules can be made to self-assemble spontaneously ... Read More

Food Microbiology

Image Microorganisms are of great significance to foods for the following reasons: (1) microorganisms can cause spoilage of foods, (2) microorganisms are used to manufacture a wide variety of food products, and (3) microbial diseases can be transmitted by foods. Foods can be considered as a medium for microbial growth. Considering the vast array of sources, substances, and methods with which food is produced, practically every kind of microbe is a potential contaminant. Given a chance to grow, microbes will produce changes in appearance, flavour, odour, and other qualities of the food. ... Read More

Are bacteria potential sources of fish environmental DNA

Image The environmental DNA (eDNA) method is being increasingly applied in various environments. Although eDNA undergoes rapid degradation in aqueous environments, it has been detected in streams up to 10 km downstream from its source. As environmental bacteria can uptake free DNA, transfer their genetic traits, and amplify, there is a potential risk that they, rather than a target aquatic species, could become a source of measured eDNA. This study examined whether bacteria with incorporated fish DNA could be such a source by investigating the detectability of fish DNA generated by bacteria inhabiti... Read More

The effect of storage conditions on microbial communities in stool

Image Microbiome research has experienced a surge of interest in recent years due to the advances and reduced cost of next-generation sequencing technology. The production of high quality and comparable data is dependent on proper sample collection and storage and should be standardized as far as possible. However, this becomes challenging when samples are collected in the field, especially in resource-limited settings. We investigated the impact of different stool storage methods common to the TB-CHAMP clinical trial on the microbial communities in stool. Ten stool samples were subjected to DNA ... Read More

Evaluation of mitochondrial DNA copy number estimation techniques

Image Mitochondrial dysfunction has long been known to play an important role in the underlying etiology of several aging-related diseases, including cardiovascular disease (CVD), neurodegenerative disorders and cancer. As an easily measurable and accessible proxy for mitochondrial function, mitochondrial DNA copy number (mtDNA-CN) is increasingly used to assess the role of mitochondria in disease. Several population-based studies have shown higher levels of mtDNA-CN to be associated with decreased incidence for CVD and its component parts: coronary artery disease (CAD) and stroke,  neurodeg... Read More

Recurrent Hydatidiform Mole in women due to NLRP7 gene Mutation.

Image Familial Recurrent Hydatidiform Moles is a rare condition where patients have an inherited predisposition to have molar pregnancies. Molar pregnancy is an abnormal form of pregnancy in which a non-viable fertilized egg implants in the uterus and fail to survive. A molar pregnancy is a gestational trophoblastic disease growing into a mass in the uterus that swollen chorionic villi. Here a case of a young woman present with a recessive intron 7 mutation of the NLRP7 gene this led her to have two hydatidiform moles. Due to the future reproductive implications this condition has, an appropriate... Read More

Phenylketonuria and Genetics

Image Journal of Genetics Disorder & Genetic Reports is a peer reviewed journal strives to publish high quality articles on emerging developments and supports current research in the field of genetic disease and genomes. As our journal has completed 10 years we are celebrating 10th anniversary we have announced almost 50 percent discount on article processing charge to commemorate its 10th Anniversary so we are inviting eminent researches, fellow-mans, science... Read More

Genetic Analysis of Common Variants of MMPs and their Involvement in Rheumatoid Arthritis

Image Rheumatoid arthritis is a chronic inflammatory disorder that can affect more than just your joints. In some people, the condition can damage a wide variety of body systems, including the skin, eyes, lungs, heart and blood vessels. Rheumatoid arthritis (RA) affects around 1% of population and causes irreversible synovial joint damage and bone erosion. Matrix metallo proteinases (MMPs) play a role in pathologic processes; however their involvement in RA is not clear. This study investigated the association of MMP2, MMP7 and MMP9 with RA.... Read More

Parental Consanguinity and Birth Defects in Lebanon

Image Parental Consanguinity and Birth Defects in Lebanon Consanguinity ("blood relation", from the Latin consanguinitas) is the property of being from the same kinship as another person. In that aspect, consanguinity is the quality of being descended from the same ancestor as another person. The risk for birth defects in the offspring of first-cousin matings has been estimated to increase sharply compared to non-consanguineous... Read More

Journal of Genetic Disorders & Genetic Reports

Image   Journal of Genetics Disorder & Genetic Reports is a peer reviewed journal strives to publish high quality articles on emerging developments and supports current research in the field of genetic disease and genomes. As our journal has completed 10 years we are celebrating 10th anniversary we have announced almost 50 percent discount on article processing charge to commemorate its 10th Anniversary so we are inviting eminent researches, fel... Read More

Whole Exome Sequencing found a Novel Truncating Mutation within “CNTNAP2 Gene”

Image Whole Exome Sequencing found a Novel Truncating Mutation within “CNTNAP2 Gene”   On behalf of the Journal of Genetic Disorders & Genetic Reports, as Editor-in-Chief, it is my distinct honor and privilege to inform you that, it’s been four long years we have started the Journal, now we are celebrating the 09th Anniversary and we are privileged to welcome Analytical Society to our journal. A... Read More

PCR

Image                                                                   PCR Polymerase chain reaction (PCR) is a method widely used in molecular biology to make several copies of a spec... Read More

TUMOR PROTEIN

Image                                                                   TUMOR PROTEIN Tumor  protein  p53,  also  known  as  “the Guardian of the Genome”  because  of  i... Read More

Central Dogma of Life

Image                               Central Dogma of Life The flow of genetic information from DNA to RNA and from RNA to Proteins is called Central dogma of life. The polymerization of RNA complementary to the antisense strand of DNA is called Transcription. In some viruses DNA is formed from the RNA which is called as Reverse Transcription. The genetic information (In the form of nucleotide sequence) from the DNA is carried ... Read More

RFLP

Image                                                                                                                  RFLP  Restriction fragment length polymorphism (RFLP) is a technique that exploits variations in homologou... Read More

Non-Viral Vectors for Cystic Fibrosis Therapy: Recent Advances

Image Gene therapy, which is the transfer of genetic materials into the cells for therapeutic purposes, holds a huge promise in treating various hereditary diseases. Gene therapy tools are currently being used for wide range of monogenic and multi-genic disorders including but not limited to cystic fibrosis. Cystic fibrosis is caused due to mutations in a cystic fibrosis trans-membrane conductance regulat... Read More

Journal of Genetic Disorders & Genetic Reports Celebrating Most Exciting Research

Image Journal of Genetic Disorders and Genetic Reports is a peer-reviewed scholarly journal with ISSN number: 2327-5790 and Journal Impact Factor: 0.41*. Journal of Genetic Disorders and Genetic Reports is a peer reviewed online open access journal seeking to publish articles that includes a wide range of topics in this field and creates a platform for the authors to make their contribution towards the journal. ... Read More

Atypical Hypotonia-Cystinuria a New Case: Genotype-Phenotype, Description

Image Atypical Hypotonia-Cystinuria a New Case: Genotype-Phenotype, Description Hypotonia-Cystinuria syndrome (HCS; OMIM 606407) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Hypotonia-cystinuria syndrome is the presence of cystinuria type I (disruption on the SLC3A1 locus at chromosome 2p21), recessive deletions in contiguous genes in the same chromosome result in variable phenotypes depending on the different ... Read More

Journal of Genetic Disorders & Genetic Reports marks its Seven Long years journey annunciating discounts on article processing charges

Image A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth. It is a disease that is caused by a change or mutation, in an individual's DNA sequence. However, modern medicine has produced methods of identifying the potential health outcomes of genetic disorders, as evidenced by medical research from educated, advanced-degreed nurse practitioners and practicing physicians. By collecting the following evidence-based statistical observations, these professionals h... Read More

MALDI-TOF

Image In mass spectrometry, matrix-assisted laser desorption/ionization (MALDI) is an ionization technique that uses a laser energy absorbing matrix to create ions from large molecules with minimal fragmentation.   It has been applied to the analysis of biomolecules (biopolymers such as DNA, proteins, peptides and sugars) MALDI methodology is a three-step process. First, the sample is mixed with a suitable matrix material and applied to a metal plate. Second, a pulsed laser ... Read More

Journal of Applied Bioinformatics & Computational Biology shows the Gratitude towards their Editorial Board Members for the Continuous Support

Image Journal of Applied Bioinformatics & Computational Biology celebrates its eighth anniversary in the field of scientific community with the extensive support of researchers, scholars and many. Our journal is very glad to have the eminent researchers and professors, deans and directors as the Editorial b... Read More