Uta Francke

Uta Francke is a German-American physician-geneticist known for her accomplishments in mapping genes to specific chromosome locations and discovering the genes and underlying mutations responsible for Prader-Willi and Rett syndromes. Her work on detailed mapping of human chromosome laid the foundation of the Human Genome Project and discovery of many other rare genetic disorders. She is currently a professor of Genetics and Pediatrics Emerita at Stanford University. She has also served as a consultant to 23andMe Inc since 2007,^[1] and as a part-time employee from 2010-2013.^[2] In addition to her M.D., Francke has certification in both Pediatrics and Clinical and Molecular Genetics and Cytogenetics.^[3]

Francke is a past-president of the American Society of Human Genetics (ASHG) and a founding member of the American College of Medical Genetics.

Francke was born in 1942 in a small town just north of Frankfurt, Germany. Her father, who had a law degree, fought for Germany in World War II, and her mother was an elementary school teacher. Francke's father died from what was assumed as a heart attack at age 46, when she was 12 years old.^[4]

Francke received her baccalaureate from Aufbaugymnasium Idstein in 1961 where she became interested in pursuing medicine.^[4] She studied medicine at the Goethe University Frankfurt (1961-1962), Philipps-University Marburg (1962-1963) and Ludwig Maximilian University of Munich (1963-1967) where she graduated in 1967 receiving a medical degree (Dr. med.). She emigrated to California, United States in 1969 after having completed a 2 year internship at The Rechts der Isar Hospital of the Technical University of Munich.^[3][5]

Uta Francke got a license to fly a small plane and joined a flying club in New Haven.^[4]

In the United States, Francke completed her residency in pediatrics at the Children’s Hospital Los Angeles from 1969 to 1970. She took a postdoctoral fellowship position at the University of California, Los Angeles (UCLA) from 1970 to1971 and another postdoctoral fellowship position at the University of California, San Diego (UCSD) from 1971 to 1973.^[2][3] It was during her postdoctoral years that she began studying cytogenetics.^[5] From 1973 to 1978 she worked as Assistant Professor of Pediatrics (in residence), at the University of California San Diego. From 1975 to 1978 she held the position of Director of Medical Genetics at the San Diego Children’s Hospital and Health Center as well as Director of the Cytogenetics and Cell Genetics Laboratory in the Department of Pediatrics at the University of California San Diego.^[3]

In 1978, Dr. Francke moved to New Haven, Connecticut and took the position of Associate Professor of Human Genetics and Pediatrics in the Department of Human Genetics at Yale University School of Medicine. From 1978 to 1988 she was Attending Physician at the Clinical Genetics Service at Yale-New Haven Hospital. In 1981 she was certified by the American Board of Pediatrics and in 1982 she was accredited by the American Board of Medical Genetics in Clinical Genetics and Clinical Cytogenetics. ^[3]

From 1984 to 1985 she visited her country of origin (Germany) as a visiting scientist at the European Molecular Biology Laboratory in Heidelberg where she worked with Dr. Hans Lehrach. ^[3]

In 1985 she took the position of Professor of Human Genetics and Pediatrics as well as Director of Postdoctoral Training Program in Medical Genetics at Yale University School of Medicine, where she worked until her return to California in 1988/1989. ^[3] Her laboratory in Yale became a major hub for gene-mapping studies during what is known as the age of gene hunters (a term coined by Arthur Kornberg). ^[5]

In 1989 Dr. Francke moved back to California and began working at Stanford University School of Medicine. She held the position of Professor of Pediatrics as well as Professor of Genetics and Investigator. She also worked as Medical Staff at the Stanford University Hospital and the Lucile Salter Packard Children's Hospital. ^[5]

Dr. Uta Francke's research spans across five decades ranging from human and mouse chromosome identification and gene mapping to the discovery of genes involved in heritable disorders and their functions. Her laboratory developed mouse models for human micro-deletion syndromes as well as the original nomenclature for band patterns of mouse chromosomes. Francke has been a HHMI investigator from 1989 to 2000.^[6]

She has over 500 peer-reviewed publications with groundbreaking insights into Charcot–Marie–Tooth disease, Marfan syndrome, Prader–Willi syndrome, and Williams syndrome.^[7] In 1994, her laboratory discovered the gene for the inherited immunodeficiency Wiskott–Aldrich syndrome. In 1999, she co-discovered the gene for Rett syndrome, an autism-like disorder that is one of the most common causes of developmental mental disability among girls.

• Original Member, Highly Cited Researchers database, ISI (2002)
• Antoine Marfan Award, National Marfan Foundation (1996)
• President, International Federation of Human Genetics Societies (2000-2002)
• Elected President, American Society of Human Genetics (1999)
• Elected Member, American Academy of Arts and Sciences (1997)
• Elected Fellow, American Association for the Advancement of Science (1995)
• Elected Member, Institute of Medicine (National Academies) (1990)
• Elected Associate Member, European Molecular Biology Organization (2009)
• Colonel Harland Sanders Lifetime Achievement Award in Genetics, March of Dimes Birth Defects Foundation (2001)
• William Allan Award, American Society for Human Genetics (2012)
• Award for Excellence in Molecular Diagnostics, Association for Molecular Pathology (2014)^[8]