Rare Disease Geneticist: A Profile of Uta Francke

The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics.

Written byAnna Azvolinsky
| 9 min read

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UTA FRANCKE
Professor of Genetics, Emerita, Stanford University
School of Medicine
Professor of Pediatrics, Stanford University School
of Medicine
Past President, American Society of Human Genetics
(1999)
Past President, International Federation of Human
Genetics Societies (2000-2002)
March of Dimes/Colonel Harland Sanders Lifetime
Achievement Award in Genetics (2001)
William Allan Award, American Society of Human
Genetics (2012)
Association for Molecular Pathology Award for Excellence in Molecular Diagnostics (2014)
COURTESY OF STANFORD CHILDREN’S HOSPITAL
Before moving her lab from the University of California, San Diego (UCSD), to Yale University in 1978, Uta Francke learned how to fly. “I thought, where could you go from New Haven if you are very busy and don’t have much time? It’s hard to do with a car and even the train, so I got a license to fly a small plane and joined a flying club in New Haven,” says the professor emerita of genetics and pediatrics at Stanford University School of Medicine.

In her Piper Comanche plane, Francke would zoom off to Martha’s Vineyard or Nantucket for weekend excursions or to institutions in the northeast to give invited seminars on her research. “I would agree to give talks if the institution was within flying distance. And then the researchers would take me out to dinner, and what they mostly wanted to do was talk about my flying the airplane,” she says.

But Francke had much to discuss in addition to her experience as a pilot. She trained as a physician in Germany, initially driven by her interest in pediatrics. In the U.S., she entered—and helped define—the new field of medical genetics, becoming an expert in human cytogenetics and pioneering molecular diagnostics techniques.

Her scientific accomplishments include being ...

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Meet the Author

  • head shot of blond woman wearing glasses

    Anna Azvolinsky received a PhD in molecular biology in November 2008 from Princeton University. Her graduate research focused on a genome-wide analyses of genomic integrity and DNA replication. She did a one-year post-doctoral fellowship at Memorial Sloan Kettering Cancer Center in New York City and then left academia to pursue science writing. She has been a freelance science writer since 2012, based in New York City.

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Published In

May 2018

Rare Diseases

The realities of studying uncommon conditions

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