The Division of Genetics, Birth Defects, and Metabolism is deeply committed to research and is currently involved in a number of clinical research projects related to the natural history, treatment and long-term outcomes of genetic diseases. These projects include:
- Natural history of plexiform neurofibromas in children and adults with neurofibromatosis - 1.
- Treatment of optic pathway tumors and plexiform neurofibromas inchildren with neurofibromatosis - 1.
- Natural history of Gaucher disease, and the relationship between genotype and phenotype.
- Enzyme replacement therapy for children and adults with lysosomal storage diseases (Gaucher, Pompe and Fabry diseases).
- Long-term follow up of treatment for phenylketonuria (PKU).
- Identification of genes involved in the development of neural tube defects, such as spina bifida.
- Long-term follow up of children and adults with Marfan syndrome.
For more specifics on the research activities being conducted in the Division of Genetics, Birth Defects, and Metabolism, please visit the division page on the Stanley Manne Children's Research Institute website.