Blumenfeld discovered a chromosome responsible for the serious disease Familial dysautonomia which affects the nerves of fetuses. About 100 families in Israel of Ashkenazi Jewish origin have one or more children with the disease, and they suffer from nausea, high blood pressure, and some food entering their lungs. Dr. Blumenfeld says the disease was discovered about 40 years ago, but researchers did not know what caused it and whether it was genetic. She collected blood specimens for three years from the affected families and checked all their chromosomes and identified No. 9 as causing the disease. Apart from the Hadassah Hospital in Jerusalem, where Blumenfeld works, the test is now used only in New York.
- "Researchers hone in on killer disease that affects Ashkenazi Jews" - Jerusalem Post
- "Screening for familial dysautonomia will begin soon" - British Medical Journal
- "Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis" - Nature
- "Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans" - Science