Personal Genetics Education Project

Current Genetics Update: Beatrice Rienhoff, personal genomics pioneer, gets an answer

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.

Upcoming Events

Sep 14

National Society of Genetic Counselors annual conference

September 14
Columbus OH
United States
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Duke panel on Orphan Black

September 15
Durham NC
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Nov 09

National Association of Biology Teachers annual conference

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In the News

As we finish up another week of Teaching the Genome Generation at the Jackson Lab in Bar Harbor Maine, teachers are excited to receive a copy of David Epstein's "The Sports Gene". pgEd loves leading the social and ethical dimension of this annual professional development course. Looking for some summer reading? Check out pged.org/book-corner/ ... See MoreSee Less

Posted by pgEd 7 days ago

As we finish up another week of Teaching the Genome Generation at the Jackson Lab in Bar Harbor Maine, teachers are excited to receive a copy of David Epsteins The Sports Gene. pgEd loves leading the social and ethical dimension of this annual professional development course.  Looking for some summer reading? Check out http://pged.org/book-corner/

What a wonderful three days at our Summer Institute! Thanks to our friends at Brockton High School for hosting us, and to all the teachers who came and shared their energy, passion and ideas. There will be lots for pgEd to get inspirations from as we develop our new unit of lessons on genetics and identity.
See everyone at our next workshop in Boston in less than two weeks!
... See MoreSee Less

Posted by pgEd 3 weeks ago

What a wonderful three days at our Summer Institute! Thanks to our friends at Brockton High School for hosting us, and to all the teachers who came and shared their energy, passion and ideas. There will be lots for pgEd to get inspirations from as we develop our new unit of lessons on genetics and identity.
See everyone at our next workshop in Boston in less than two weeks!

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