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ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy

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Marek Malecki

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Sergei Zolotukhin
University of Florida

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Arun Srivastava
University of Florida

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About the Journal

Genetic Syndromes & Gene Therapy is an official peer-reviewed journal for the rapid publication of innovative research covering all aspects of Gene Mapping and Gene Therapy. Genetic Syndromes, Gene Mapping & Gene Therapy with highest impact factor offers Open Access option to meet the needs of authors and maximize article visibility. Journal of Genetic Syndromes & Gene Therapy encompasses the continuous coverage of all biological and medical aspects of potential gene therapies for the birth defects along with genetic disorders which include treatments for cancers, arthritis, infectious diseases, inherited diseases like cystic fibrosis and Huntington’s disease, and also genetic abnormalities or deficiencies treated by incorporating specific engineered genes into the infected cells of patient’s body. The Journal of Genetic Syndromes & Gene Therapy provides reliable information updating online viewers with the modified methods and latest advancements in the field of gene therapy for diverse genetic disorders.

Causes of Down Syndrome

Down syndrome is one of the most common genetic disorder that affects both physical and mental ability. It is caused by a gene problem before birth.Generally a normal person posses 46 chromosomes but a person with Down Syndrome has 47 chromosomes.There are three different types of Down syndrome: trisomy, translocation, and mosaicism. Symptoms include short head,short neck,poor muscle tone, excessive flexibility etc.

Down Syndrome results when each cell in the body possess three copies of chromosome 21 instead of two copies. Extra copies of genes on chromosome 21 results in the disruption of normal function and development of the body which increases the risk of health problems. Down Syndrome occurs when part of chromosome gets attached to another chromosome during the formation of reproductive cells or embryo. Affected people possess two normal copies of chromosome 21 and one extra chromosome that is attatched to other.

 Related Journals of Down Syndrome

Journal of Down Syndrome & Chromosome Abnormalities, Genetic Engineering, Stem Cell, American Journal of Medical Genetics, Down Syndrome Research and Practice,International Journal of Down Syndrome, International Medical Review on Down Syndrome, Down Syndrome Victoria, Journal of Intellectual Disability Research, Down syndrome Journals, Faseb Journal, Fetal Diagnosis and Therapy

Genetic Mutations in Humans

Genetic mutation is a permanent change in the DNA.Mutations may or may not produce changes in the organism.Hereditary mutations and Somatic mutations are the two types of Gene mutations.Former type is inherited from the parents and are present in every cell of the human body whereas latter type may occur at some point of life time due to environmental factors.

Certain enzymes repair gene mutations that could cause a genetic disorder. These enzymes identify and repair mistakes in DNA before the gene is expressed and an altered protein is produced. When a mutation alters a protein, it can disrupt normal development. Mutation may occur from a single DNA to a large segment of chromosome that involves multiple genes.

Related Journals of Genetic Mutations

Genetic Medicine, Genetic EngineeringJournal of Genetic Mutation Disorders, Mutation Research/Genetic Toxicology and Environmental Mutagenesis, European Journal of Human Genetics, Genetics in Medicine, Human Mutation, Human Molecular Genetics, Genetic mutations Journals, Journal of Genetic Counseling

Sickel Cell Anemia

Sickel cell anemia is a blood disorder caused by an abnormality in haemoglobin molecule in red blood cells.Person inherited by Sickle-cell disease has two abnormal copies of haemoglobin gene.Normal red blood cells are round and flexible whereas sickled red blood cells appear in sickle-shape.Abnormal haemoglobin forms strands that change red blood cells to that form and hence they accumulate at the branches of the veins and blocks the flow of blood.As haemoglobin is responsible for carrying of oxygen throught out the body,there may be chronic attacks due to lack of oxygen supply.

Mutations in HBB gene results in Sickle Cell disease. Haemoglobin consists of four subunits.Two subunits are Alpha-globin and other two are Beta-globin. HBB gene is responsible for making instructions in the production of Beta-globin. Hence mutations in HBB gene results in different abnormal versions of beta-globin.These abnormal versions may distort red blood cells into sickle shape.

Related Journals of Sickel Cell Anemia

Genetic Medicine, Genetic Engineering, Blood, American Journal of Epidemiology, American Society of Hematology, Journal of Clinical Pathology, Human Molecular Genetics, New England Journal of Medicine Science, Sickel cell anemia Journals

Muscular Dystrophy

It is a type of disease that causes progressive weakness and loss of muscle mass. Here the process of mutation get involved in the production of proteins that are required to build a healthy muscle.Some types of Muscular dystrophy are Myotonic, Facioscapulohumeral , Congenital, Limb-girdle. It occurs when one of the genes responsible for production of proteins is defective.But some of them occur in the early stage of embryo and is passed to the next generation.

Duchenne Muscular Dystrophy is the most common form and mostly affect boys. It is caused due to the absence of dystrophin,a protein involved in maintining the integrity of muscle. Facioscapulohumeral Muscular Dystrophy generally begins at the teenage age and causes progressive weakness in muscles of face, arms, legs, shoulders and chest. Myotonic Muscular Dystrophy is the most common form and causes cataracts, cardiac abnormalities and endocrine substances.


Related Journals of Muscular Dystrophy

Carcinogenesis, Genetic Engineering, Journal of Medical Genetics, Molecular Therapy, Human Molecular Genetics, Human Genetics, American Journal of Human Genetics, PLOS Currents: Muscular Dystrophy, Muscular dystrophy Journals

Cystic Fibrosis

Cystic fibrosis is a disorder caused by the presence of mutations in both the copies of the gene which is responsible for the protein cystic fibrosis transmembrane conductance regulator.It affects the cells that produce mucus, sweat and digestive juices.These fluids are thin and slippery but a defective gene causes these secretions to become thick ,thus blocking the passages in the lungs and pancreas.

Mutations in CFTR gene results in Cystic fibrosis. CFTR gene enables instructions for transportation of chloride ions into and out of the cells. Mutations in the CFTR gene disrupts the function of chloride channels that prevents the flow of chloride ions and water across cell membranes. As a result organs produce mucus that is thick and sticky which clogs the airways and ducts resulting isevere chronic attacks.

Related Journals of Cystic Fibrosis

Carcinogenesis, Genetic EngineeringJournal of Cystic Fibrosis, American Journal of Medical Genetics, European Journal of Human Genetics, American Journal of Human Genetics, American Journal of Respiratory and Critical Care Medicine, Journal of Genetic Counseling

Auto immune Disease

An Auto immune disease develops when the immune system responsible for defending the body against diseases fights against the healthy cells. Here the immune system fails to differentiate healthy tissues and antigens, as a result the body sets off a reaction that destroy normal tissues.Some unknown trigger happens to confuse the immune system and instead of fighting against the infections it destroys the body’s own tissues.

Areas often affected by autoimmune disease include blood vessels, connective tissues, endocrine glands, joints, muscles, red blood cells, skin. Some common symptoms of autoimmune disease include fatigue, fever, joint pain, and rash. Some common autoimmune disorders include Addison’s disease, Multiple Sclerosis, Type 1 diabetes, Sjogren syndrome, Reactive Arthritis, Dermatomyositis, Pernicious anemia, Celiac disease. This disorder may result in destruction of body tissue, abnormal growth of an organ, changes in organ function.

Related Journals of Auto immune Disease

Genetic Medicine, Genetic Engineering, Journal of Autoimmunity, Journal of Autoimmune Diseases, Journal of Autoimmune Diseases and Rheumatology, Open Journal of Rheumatology and Autoimmune Diseases, Advances in Immunology, International Immunology, Auto immune disease Journals

Mitochiondrial Disease

Mitochiondrial disease is a group of disorder caused by dysfunctional mitochondria. Mytochondria are responsible for generation of 90% of energy required by the body to sustain life and growth.These are also known as the power house of the cell.They contain tiny packages of enzymes that converts nutrients into energy. This disease is caused by mutations in mitochondrial DNA and its failure in function may ultimately lead to cell death.

Symptoms include loss of motor control, muscle weakness and pain,swallowing difficulties,liver disease,diabetes,cardiac disease,gastro-intestinal disorders and developmental delay.Ecamples on mitochondrial diseases include dementia,Diabetes mellitus and deafness,Leigh syndrome,neuropathy,Myoclonic epilepsy,strke-like symptoms,mtDNA deletion.

Related Journals of Mitochiondrial Disease

Genetic Engineering, Stem Cell, Mitochondrion, Disease and Molecular Medicine, International Review of Cytology-a Survey of Cell Biology, Journal of Inherited Metabolic Disease, Journal of Bioenergetics and Biomembranes, Molecular Genetics and Metabolism, Mitochiondrial disease Journals

Congenial Syndromes

Congenial syndromes is a disease that exists before birth.These are characterized by structural deformities and defects are involved in developing fetus.Defects may be due to genetic or environmental factors.The outcome of the disorder may be because of mother’s diet, vitamin intake,glucose levels prior to ovulation. Paternal exposures prior to conception and during pregnancy increases the risk of this disease.It is caused by multiple mutations of the fibroblast growth factor receptor 2 gene.

Defects may include errors of morphogenesis,infection,epigenetic modifications or a chromosomal abnormality.The causes of this syndrome may be due to Fetal alcohol exposure,Toxic substances,Paternal smoking,Infections,Lack of nutrients,Physical restraint,Genetic causes,Socioeconomic status,Role of radiation,Father’s age.

Related Journals of Congenial Syndromes

Genetic Engineering, Stem Cell, Abdominal Imaging, Nature Genetics, Community Genetics, Faseb Journal, Mammalian Genome, Journal of Theoretical and Philosophical Psychology, Congunial syndromes Journals

Reye Syndromes

Reye syndromes is a disease that causes swelling of the brain and liver .The actual cause is unknown but studies has shown that Aspirin is related to the cause of this disease generally in children and teenagers recovering from flu illness.The symptoms are vomiting, nausea, confusion,lethargy,coma, irritable and aggressive behavior.Abnormal laboratoty tests include rise in lever enzymes, ammonia levels and low serum glucose levels.

It is believed that tiny structures within the cell called the mitochondria become damaged. Mitochondria provide cells with energy to the liver for many of the vital functions such as filtering toxins from blood and regulating blood sugar levels. Failure of energy supply to the liver may result in build up of toxic chemicals in the blood which can damage the entire body.It is often seen in children ages 4 to 12. Symptoms are so mild that they go unnoticed. Early detection and treatment are critical but the chances for a successful recovery are greater when Reye Syndrome is treated at its earliest stages. Complications may include coma, permanent brain damage, seizures.

Related Journals of Reye Syndromes

Carcinogenesis, Genetic EngineeringBrain & Development, Annals of Neurology, Journal of Pediatric Gastroenterology & Nutrition, Brazilian Journal of Infectious Diseases, Archives of Disease in Childhood, Journal of The Neurological Sciences, Reye syndromes Journals

Patau Syndromes

Patau syndromes is a disorder caused by chromosomal abnormality.It occurs when some or all the cells contain extra copy of the chromosome 13.This restricts the normal functioning ,growth and development of the organs resulting in intellectual disability and physical abnormalities. It is also called Trisomy 13.It also can occur when part of chromosome gets attatched to another chromosome during the formation of embryo.

Most cases of trisomy 13 are not inherited and results from the random events during the formation of eggs and sperm. An error in cell division may result in abnormal number of chromosome. If this extra copy contributes in the genetic makeup of child then the child possess an extra chromosome 13 in each cell of the body resulting in the physical abnormalities in most of the parts.

Related Journals of Patau Syndromes

Genetic Engineering, Stem CellBrain Research, Annals of Human Genetics, Prenatal Diagnosis, Clinical Dysmorphology, Fetal Diagnosis and Therapy, Journal of Intellectual Disability Research, Patau syndromes Journals

Fragile Syndrome

Fragile syndrome is a genetic disorder that results in intellectual disability.Mutations in the FMRI gene causes this disease. This gene is responsible for the preparation of a protein ,FMRP.This protein regulates the production of other proteins and is necessary for the development of synapses which are the connections between nerve cells.Mutations in FMRI prevents the production of FMRP ,thus disturbing the nervous system.

Males are severely affected by this disorder than females.Affected individuals usually have delayed development of speech and language by age 2.Children with fragile X syndrome may also have anxietyand hyperactive behavior such as impulsive actions. Fragile X syndrome is inherited in an X-linked dominant pattern. This condition is considered as X-linked since the mutated gene that causes the disorder is located on X chromosome.

Related Journals of Fragile Syndrome

Genetic Engineering, Stem CellHuman Genetics, American Journal of Medical Genetics, Human Molecular Genetics, American Journal of Human Genetics, Nature Genetics, Journal of Medical Genetics, Fragile syndrome Journals

Angelman Syndrome

Angelman syndrome is a genetic disorder that affects the nervous system.Characteristic features include happy demeanor,intelluctual disability,speech impairment,walking and balancing disorders.This arises when segment of the maternal chromosome 15 containing the gene UBE3 A is deleted or undergoes mutation.People inherit one copy of this gene from each parent and both the copies remain active in many of the body tissues.But due to genetic mutations, gene may become active or get deleted in some parts of the brain resulting in intellectual disability.

Angelman Syndrome may also be caused by a chromosomal rearrangement called a translocation or by a mutation or other defect in the region of DNA that controls the activation of UBE3A gene. In some people with angelman syndrome the loss of a gene called OCA2 is associated with light colored hair and fair skin. This gene is located on the segment of chromosome 15 that is deleted in people with this disorder. Most cases of this syndrome are not inherited.

 Related Journals of Angelman Syndrome

Carcinogenesis, Genetic EngineeringEuropean Journal of Human Genetics, Brain & Development, Journal of Child Neurology, Cytogenetic and Genome Research, Neurobiology of Disease, American Journal on Mental Retardation, Angelman syndrome Journals


Tay-Sachs is a genetic disorder that destroys the nerve cells in the brain and spinal cord. Characteristic features include weakening of muscles,intellectual disability,vision and hearing loss,paralyses.Mutations in the HEXA gene causes this disease .This gene is responsible for the production of an enzyme in lysosome which plays a critical role in the brain and spinal cord.This enzyme breaks down the toxic substances in the cell.Mutations in the HEXA gene causes failure in the production of enzyme resulting in the accumulation of toxic substances in the cells leading to damage in the neurons of the brain and spinal cord.

Since Tay-Sachs disease impairs the function of a lysosomal enzyme this condition is sometimes referred to as a lysosomal storage disorder.This condition is inherited in which both the copies if the gene undergoes mutations. Persons with Tay- Sachs disease experience vision and hearing loss, intellectual disability and paralysis. An eye abnormality called a cherry-red spot is the characteristic feature of this disorder.

Related Journals of Tay-Sachs

Carcinogenesis, Genetic Engineering, Human Molecular Genetics, Sao Paulo Medical Journal, Journal of Neurochemistry, Journal of Molecular Biology, New England Journal of Medicine, Mammalian Genome - MAMM GENOME, Tay-Sachs Journals

Prenatal Genetic Testing

Prenatal genetic testing is meant to evaluate the chance of exhibiting genetic disorders in their unborn children.The tests are usually done between 10th and 13th week of pregnancy . These tests involves the measurement of certain levels of substances in the mother’s blood and obtaining an ultrasound.These tests are meant to evaluate the genetic material of the fetus for any genetic disorders.It is also useful to diagnose high risk pregnancies.

Genetic tests are performed on a sample of blood,hair,skin,amniotic fluid or other tissue.A positive test result means that the laboratory found a change in a particular gene, chromosome or a protein. A negative test result means that the laboratory did not find a change in the gene, chromosome or a protein that is under consideration.

Related Journals of Prenatal Genetic Testing

Carcinogenesis, Genetic EngineeringObstetrics & Gynecology, Genetic Testing, Fetal Diagnosis and Therapy, Clinical Genetics, Prenatal Diagnosis, Journal of Midwifery & Womens Health, Prenatal genetic testing Journals

Genetic Disorders

Genes hold DNA that are responsible for giving instructions in the production of proteins.Mutations in genes may cause failure in the working of proteins leading to a condition called genetic disorder.These disorders may be inherited form parents or may occur at any point of lifetime.Genetic disorder may result in the addition or reduction in the number of chromosomes.

The four groups of genetic disorders are Single gene disorders, chromosome abnormalities, mitochondrial disorders, and multifactorial disorders. The four main ways of inheriting an altered gene are autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive. Genetic disorders may or may not be heritable. In non-heritable genetic disorders defects may be due to mutations in the DNA.

Related Journals of Genetic Disorders

Genetic Engineering, Stem Cell, Journal of Genetic Disorders & Genetic Reports, Journal of Medical Genetics, Journal of Genetic Mutation Disorders, Source Journal of Genetic Disorders, Genetic Disorders, Genes and Diseases, Genetic disorders Journals


Recently published articles

Proteus Syndrome: Case Report from Karachi, Pakistan

Iqra Khan, Maroof Hassan, Amjad Siraj Memon, Akhtar Amin Memon

Fetal Loss: A Genetic Insight of the De Novo Accessory Bi-Satellited Marker of Chromosome 22P

Venkata Padmalatha Oruganti, Metuku Vidyadhari, Padmavathi Buddhavarapu and Lakshmi Rao Kandukuri

Identification of Unique Pattern of CFTR Gene Mutations in Cystic Fibrosis in an Ethnic Kashmiri Population (North India)

Arshad A Pandith, Shahnawaz A Sheikh, Shehjar Faheem, Mahrukh H Zargar, Tahir M Malla, Zafar A Shah, Adil Lateef, Iqbal Qasim, Niyaz A Azad, Shahid M Baba and Fayaz A Dar

Molecular and Cytogenetic Evaluation of Gender in Patients Born with Ambiguous Genitalia from Different Regions of the Valley of Kashmir, North India

Arshad A Pandith, Shahnawaz Akbar, Shehjar Faheem, Tahir M Malla, Maharukh H Zargar, Zafar A Shah, Adil Lateef, Iqbal Qasim, Fayaz A Dar, Niyaz A Azad and Shahid Baba

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