Chromosome abnormalities are the most common cause of childhood disability and developmental delay. Yet there is little research into specific treatments to improve these children’s lives. Chromosome abnormalities are presumed to be too complex to disentangle because the genetic basis involves dozens or even hundreds of genes. However, emerging science suggests that only a limited number of these genes are responsible for the majority of the clinical problems. What was once perceived as excessively complex is now becoming better understood.
The Chromosome 18 Clinical Research Center supported by the families of the Chromosome 18 Registry and Research Society are developing an approach for defining and understanding these conditions and for making the Chromosome 18 conditions the first treatable chromosome abnormalities. Join us as we host Professor Jannine DeMars Cody, PhD and Dr Daniel E. Hale to learn about their research into the Chromosome 18 variation, and their achievements forming a global registry and research program, and network of families.
Jannine DeMars Cody is a Professor of Genetics in the Department of Paediatrics at the University of Texas Health Science Center. In 1990, she founded the Chromosome 18 Registry and Research Society as a way to bring affected families together to learn from each other. This was prompted by her daughter Elizabeth’s diagnosis Chromosome 18q deletion (18q-). To date, the Registry includes more than 3000 families globally. The approach and structure of the centre is unique and can serve as a model for other rare complex conditions.
Daniel E. Hale is the Chief of Paediatric Endocrinology and Diabetes in the Department of Paediatrics at Pennsylvania State Hershey Children’s Hospital. For the past 22 years he held the equivalent position at the University of Texas Health Science Center. He also currently serves as the Medical Director for the Chromosome 18 Research Center and for the Chromosome 18 Registry and Research Society. He has authored over 100 peer-reviewed articles on diabetes, fatty acid metabolism, Chromosome 18 abnormalities, and other topics. He participates in a number of paediatric endocrine and diabetes research studies.
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