Rare genetic disorder | Facts & Findings


Journal of Genetic Disorders and Genetic Medicine is a OPEN ACCESS peer reviewed journal which publishes Original Articles, Reviews, Case Reports, Clinical Images related to Genetic Disorders, Chromosomal Disorders, Gene Mapping, Gene Therapy genetically birth defects, Cancer Genetics , Genetic Mutations, Metabolic Diseases, Single Gene Disorders, Genetic aspects of Common Complex Diseases, Population Genetics, Environmental Genetics, Genetic Counseling & Education, Gene Regulation, Epigenetics, Disease-specific Animal Models and Regenerative Medicine

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs

Genetic Disorders is caused by a change, or mutation, in an individual's DNA sequence. A genetic disorder is an illness caused by changes in a person's DN leads to frequent seizures shortly after birth and severe impairment in neurological development, with most affected people being unable to walk, talk or care for themselves. The disease leads to frequent seizures shortly after birth and severe impairment in neurological with development, Among these genes is CDKL5, which encodes a protein necessary for proper brain functioning. Mutations in the CDKL5 gene produce CDKL5 Deficiency Disorder, with one of the first symptoms being early-onset epilepsy. There is no therapy approved for treating the disease now known to affect thousands of people.

Human genome sequencing is now relatively straightforward but the big challenge is to understand how genetic changes cause disease The symptoms affecting patients with this unnamed syndrome are a combination of the immune system being too weak and not mounting a proper response, while in other respects producing an excessive response. Studies involving genomic studies such as: genetic mapping by next generation sequencing techniques, RNA-Sequencing Sequencing, and microarray are highly solicited. Further, studies concerned with diagnostic techniques such as RAPD and RFLP for screening mutations or identifying polymorphisms are also solicited.

Approximately one in forty-two thousand children are born with a disease called CDKL5 Deficiency Disorder, according to a new medical report recently published in the journal Brain and presented last month at the 13th European Pediatric Neurology Society Congress in Athens, Greece. This means that each year there are over 100 new children born with the disease in the EU alone, and over 3,000 in the world by a medical team from the Royal Hospital for Children in Glasgow, kept track of all births in Scotland during three years and applied genetic testing to all children under 3 years of age who developed epilepsy.

“We found that as many as 1 in 4 children with epilepsy have a genetic syndrome”, explains Prof Sameer Zuberi , corresponding author for the study, “and a small group of genes explains most of the cases".

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