Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases

Plain-language summary

In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases. The genetic basis was elucidated with geneticist colleagues both in Israel and worldwide. The diseases we have found encompass all the fields of pediatric neurology including intellectual disability, epilepsy, muscle-nerve disorders, malformations of the brain, microcephaly, macrocephaly, cerebellar ataxia, chorea. dystonia, cerebral palsy and many other symptoms and signs. We are especially interested in consanguineous families, in whom the parents are first or second degree cousins. These families often bear autosomal - recessive diseases. If the family is informative - with 2 or more affected children - then with current genetic techniques there is a good chance of finding the causative gene to this specific disease. This is not only a theoretical - academic accomplishment. In practice, after discovering the gene, the family is given genetic counseling and in their further pregnancies the geneticists will examine either by preimplantation genetic diagnosis (PGD) or amniocentesis if the embryo is affected or not. In the early stages of the pregnancy if the embryo is indeed affected by the disease caused by the gene we have found and the religious official consents, genetic counseling can offer termination of pregnancy to the couple. Needless to say, we know the immense burden of an affected child on the family, community and society. The parents are guilt-ridden, the affected child draws extensive resources from educational, health and rehabilitation authorities. We can contribute to the well-being of the family and the clan (because many times the relatives are affected). We can perform sophisticated genetic studies such as Whole Genome Sequencing and Whole Exome Sequencing.After an informative family is recruited to the study, we will explain the aims of the research. The parents and eligible patients will sign informed consent forms, according to the local Helsinki Board. Blood samples will be taken in Israel, DNA extracted in the Israeli lab and then shipped coded to the researchers in USA or Germany. If the researchers will find a new gene the family will be notified and given appropriate genetic counseling. We will continue to follow and treat the family onwards.

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