In 2007, Dr. Hugh Rienhoff began a quest to understand the genetic basis of what was causing his daughter Beatrice’s unusual symptoms. Dr. Rienhoff analyzed her DNA with a sequencer he bought on eBay, working long nights at home to find what sort of changes Beatrice had in her DNA that were causing her symptoms, which include an inability to put on muscle weight, the possibility of heart problems, widely spaced eyes and a cleft uvula. Over the years, he has worked with various collaborators and companies, and has analyzed both Beatrice’s DNA and family member’s DNA as well. It appears he has found an answer!
From Scientific American, “he and a group of collaborators have found a mutation in the gene that encodes transforming growth factor-β3 (TGF-β3). Genes in the TGF-β pathway control embryogenesis, cell differentiation and cell death, and mutations in several related genes have been associated with Marfan syndrome and Loeys–Dietz syndrome, both of which have symptomatic overlap with Bea’s condition. The mutation, which has not been connected to any disease before, seems to be responsible for Bea’s clinical features, according to a paper to be published in the American Journal of Medical Genetics.”
Beatrice was one of the very first faces associated with the promise of personal genome sequencing. Beatrice and her father are pioneers who have in part paved way for the successes we’ve seen with Nic Volker and the Beery Twins. So far, Beatrice is the only person with this variant. Dr. Rienhoff continues to hope to find others, in part so he can learn about long-term outcomes of living with this genetic variant. Many families impacted by a rare genetic disease search for others with the same condition, motivated by a sense of community and a desire to join forces to advocate for research, and to share experiences and strategies for living with a rare condition. The Office of Rare Diseases Research is housed at the NIH and offers extensive information for families and researchers. NORD, Genetic Alliance and The Global Genes Project are examples of family and patient-driven efforts to connect, empower and move research forward.
Congratulations to the Rienhoff family, we look forward to hearing more about Beatrice and her progress in the future.
