Genetic evaluation of inherited unexplained neurological disorders in childhood

Since consanguineous marriages are common practice in Iran, expectedly the rate of autosomal recessive rare incapacitating diseases such as developmental delay/intellectual disabilities, epilepsy, deafness, blindness, and etc. are high. These conditions present many challenges to patients, families, and physicians. Some children with these types of conditions wait years for an accurate diagnosis due to medical complexity or symptoms that cannot be explained by standard medical knowledge. In some cases, a diagnosis never comes. Frequently these children have undergone expensive, and sometimes, painful diagnostic procedures for many years, and families are still left without an answer, and therefore lack definitive therapeutic and preventive options. Families with between ۲-۴ (or more) individuals with autosomal recessive conditions, as well as many other families with autosomal dominant conditions with many more affected family members, will be recruited for mapping studies. The aim being to undertake cutting-edge genomic technologies including high density SNP microarray studies to map the likely chromosomal location of the disease gene in each family, then cataloguing genes located within the linked region and subsequently, to identify causative genes by a candidatepositional strategy and the application of next generation sequencing technologies with focus on hereditary undiagnosed or genetically heterogeneous diseases to identify and characterise rare and yet to be described disorders and syndromes in childhood.

کلیدواژه ها:

Genetic ، Childhood ، Inherited ، Neurological.