Juli Bollinger, M.S., genetic counsellor and researcher at John Hopkins University talks about the genetics of Huntington's disease and the data she presented at the Annual ACMG Clinical Genetics Meeting in Phoenix, AZ.
Huntington’s disease is a fatal neurodegenerative disease characterized by uncoordinated and uncontrollable movements, cognitive deterioration and behavioral and/or psychological problems. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25-year period until the patient eventually dies. Chorea is the pronounced symptom of the condition. Children of Huntington's disease parents know that they have a 50-50 chance of getting the disease and many are relunctant to take the genetic test prior to symptoms appearing.
Bollinger J, et al. Returning Incidental Findings in Clinical Sequencing: Opinions of Individuals Tested Presymptomatically for Huntington’s Disease 20-30 Years Ago. Presented at Annual ACMG Clinical Genetics Meeting; Phoenix, AZ; March 21-25, 2017.