Gary Diamond
Alyn Hospital, IsraelPresentation Title:
Community genetics in real time: Congenital anomalies and genetic disorders in an Israeli Arab town with elevated consanguinity
Abstract
Background: To ascertain rates of congenital malformation and genetic diseases in a local where parental consanguinity is high.
Methods: We reviewed the medical charts of 7,200 children over a 6year period. The study is a retrospective compilation of the chart reviews in a semi-urban Muslim Arab town which were previously presented.
Results: The results of our study revealed a high rate of congenital anomalies in our study group (7.33%), this compares to other studies in highly consanguineous communities where the frequency of anomalies in children and young adults was found to be 6%.
In our study group, the most important genetic disorders and congenital anomalies (in the group of children whom we studied in this survey) were cardiovascular anomalies, hemoglobinopathies, neural tube defects, monilethrix, and chromosomal disorders.
Conclusions: Our survey, focused on one particular town, is presented as a model of epidemiological ascertainment for other communities as well, and includes recommendations, at a community level, to decrease rates of genetic disorders and malformations. The survey is important considering the numerous worldwide communities and populations where, due to social and religious customs, consanguinity continues to present challenges to efforts by the health system to reduce neonatal morbidity and mortality.
Biography
Gary Diamond, is known for his pioneering research on the neurodevelopmental effects of congenital HIV infection in newborns during his disabilities training at the Rose F. Kennedy Center at the Albert Einstein College of Medicine in New York. He went on to investigate developmental impairments from early emotional and environmental deprivation among foster care children in New York City, as well as among youngsters adopted from orphanages in Eastern Europe. He directed the child developmental services for the largest care provider in the public health system in the central district of the country, while holding an academic position and teaching at Tel Aviv University and the Schneider Children’s Medical Center over the past 30 years. His clinical and epidemiological research on trends and causes of the ongoing “epidemic” of Attention Deficit Disorders (ADHD) and Autism (ASD) Syndromes in a unique collaborative project with the world-renowned geneticist, Prof. Lutfi Jaber, as well as on other challenges, including use of stimulant medications for ADHD and maternal use of atypical antipsychotic treatments during pregnancy. He has served as member of the American Academy of Pediatrics, the American Academy of Cerebral Palsy and Developmental Medicine, as well as the director of the Ezer Mitzion and Aleh foundations for handicapped children, as well as a member of the Association for Early Childhood for the Arab Child, as well as the director of the cerebral palsy clinic at the Alyn Hospital for Child Rehabilitation in Jerusalem, serving both Israeli and Palestinian children.