Uta Francke

Clinical Focus

• Cancer Genetics
• Clinical Genetics

Honors and Awards

• Elected Member, Institute of Medicine (National Academies) (1990)
• Elected Fellow, American Association for the Advancement of Science (1995)
• Elected Member, American Academy of Arts and Sciences (1997)
• Elected President, American Society of Human Genetics (1999)
• Colonel Harland Sanders Lifetime Achievement Award in Genetics, March of Dimes Birth Defects Foundation (2001)

Professional Education

• Board Certification: Clinical Molecular Genetics, American Board of Medical Genetics (1993)
• Board Certification: Clinical Genetics, American Board of Medical Genetics (1982)
• Board Certification: Clinical Cytogenetics, American Board of Medical Genetics (1982)
• Board Certification: General Pediatrics, American Board of Pediatrics (1981)
• Fellowship: UCLA Medical Center, CA (1971)

Graduate & Fellowship Program Affiliations

• Genetics

Research Interests

To understand the functional consequences of microdeletions that cause defined clinical syndromes, the laboratory has created mouse models for Williams-Beuren syndrome and Prader-Willi syndrome (PWS). The PWS mice are deleted for an imprinted cluster of C/D box small nucleolar RNA (snoRNA) genes. Current goals are to identify the function of these snoRNAs and to understand how their loss causes the PWS phenotype.

Publications

• Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. Schüle B, Armstrong DD, Vogel H, Oviedo A, Francke U "Clin Genet" 2008 ; 2 (74) : 116-26
• Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C "Am J Hum Genet" 2007 ; 3 (81) : 454-66
• DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. Schüle B, Li HH, Fisch-Kohl C, Purmann C, Francke U "Am J Hum Genet" 2007 ; 3 (81) : 492-506
• Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. Jordan C, Li HH, Kwan HC, Francke U "BMC Med Genet" 2007 : (8) : 36
• An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA "J Med Genet" 2007 ; 2 (44) : 136-43