Nearly 40,000 people globally suffer from Hemophilia B, according to the World Federation of Hemophilia. It is a monogenetic disorder, that is, Hemophilia B is caused by one gene only – the Factor 9 gene – that lacks the protein needed to properly clot blood.
For decades, physicians and researchers have been trying to answer the question, “What are the DNA changes in the gene that cause Hemophilia B?”
UW Medicine’s Jill Johnsen, M.D., is one of those physicians. She is a professor in the UW Medicine Division of Hematology and Oncology, and a faculty member at the Institute for Stem Cell & Regenerative Medicine.
“Answering that question has been has been really hard technically,” she said. “How are we going to interrogate this gene for all the different ways DNA changes might change the protein?”
The rarity of the disorder, one case in 20,000 male births she said, adds to difficulty.
“It’s a rare disorder and often when we do genetic testing, we find a gene change no one has seen before, or a gene change only in seen only a few people,” said Johnsen. “We didn’t have additional evidence, other than identifying a gene that could cause Hemophilia B. These are actionable test results. We really care.”
