Heather Olson, MD, MS, Neurologist at Boston Children’s and Neurology Instructor at Harvard Medical, discusses FOXG1 Research Foundation’s Natural History Study.
FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. The condition can be caused by mutations within the FOXG1 gene or a deletion of genetic material from the region of the long arm of chromosome 14 where the gene is located. FOXG1 syndrome is considered an autosomal dominant condition. While it is possible for parents to be carriers, most cases result from new mutations.
As Dr. Olson explains, natural history studies like the one supported by Ciitizen and the FOXG1 Research Foundation are critically important, especially for rare diseases. These studies allow researchers to learn about different symptoms, how heterogeneous the patient population is, and to avoid bias when conducting studies. Dr. Olson also explains that this particular natural history study is unique in that it is digital which is beneficial as it puts less strain on families and patients participating in the study.
To learn more about FOXG1 syndrome and rare neurological disorders, visit checkrare.com/diseases/neurology