Csillia Gabriella Krausz
Professor in Endocrinology
President of the European Academy of Andrology
Clinical Lead of the ESE Reproductive Endocrinology Focus Area
Department of Biomedical, Experimental and Clinical Sciences
Viale Pieraccini, 6
50139, Florence, Italy
Tel.: +39 055/2758421
C/ Cartagena, 340-350
08025, Barcelona, Catalonia, Spain
Tel: +34 934 169 700
Department’s URL: https://www.unifi.it/p-doc2-2018-0-A-2b333d2a352c-1.html
Elena Casamonti PhD
Marisa Fino technician
Francesca Cioppi MS
Matteo Vannucci MD
Fundacio Puigvert team:
Antoni Riera-Escamilla PhD
Daniel Moreno-Mendoza MD , currently PhD student
Senior Collaborators at the Fundacio Puigvert:
Elisabet Ars, PhD
Eduard Castané MD
Prof. Krausz leads two research groups with longstanding expertise in molecular genetics of different pathological conditions affecting males (spermatogenic disturbances, cryptorchidism, testis cancer, central hypogonadism). Her team combines clinical andrology with translational research. The laboratory was the promoter/coordinator of several multicentre studies aimed at defining the role of Y chromosome rearrangements/haplogroups and a number of autosomal and X-linked genetic risk factors in relationship with male infertility and cryptorchidism.
During the last 4 years, research has been mainly focusing on exome analyses in highly selected NOA patients and in familial cases of testis cancer (patient-parent trios). Exome analysis in SCOS patients has allowed the identification of a high-risk group (based on testis histology and blood analysis) for occult Fanconi Anemia (FA). This finding has major clinical relevance since FA is a cancer-prone disease (Krausz, Riera-Escamilla et al Genetics in Medicine, 2018, in press). The recently performed whole X-chromosome sequencing allowed the identification of recurrent X-linked genetic factors in NOA with potential diagnostic relevance. In addition to the exome studies, the team is currently performing molecular studies aimed at evaluating the effect of cytotoxic treatments on sperm genome and epigenome in patients affected by testis cancer and haematological malignancies. The Florence laboratory is a reference lab for EMQN for the analysis of AZF deletions and Prof Krausz is the first author of the EAA/EMQN Guidelines on Y chromosome microdeletion analysis (Krausz et al Andrology. 2014;2(1):5-19).
Prof. Krausz is a clinical andrologist (specialized in endocrinology) and obtained her PhD in Human Genetics (Pasteur Institute/Université Paris VII). Prof Krausz was the PI of the Florence Unit of the “Reprotrain” Marie Curie Network supported by the EU (2012 -2016). She has started a collaboration with the Andrology Department of Fundacio Puigvert in 2008 and since than the two laboratories exchange fellows, students and share all clinical and molecular data. The team participates in the GEMINI project.
Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018 Apr 5. doi: 10.1038/s41585-018-0003-3.
Krausz C, Cioppi F, Riera-Escamilla A. Testing for genetic contributions to infertility: potential clinical impact. Expert Rev Mol Diagn. 2018 ;18(4):331-346.
Krausz C, Casamonti E. Spermatogenic failure and the Y chromosome. Hum Genet. 2017; 136(5):637-655.
Tournaye H, Krausz C, Oates RD. Novel concepts in the aetiology of male reproductive impairment. Lancet Diabetes Endocrinol. 2017 Jul;5(7):544-553
Lo Giacco D, Chianese C, Ars E, Ruiz-Castañé E, Forti G, Krausz C. Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility. J Med Genet. 2014;51(5):340-4.
Giachini C, Nuti F, Turner DJ, Laface I, Xue Y, Daguin F, Forti G,Tyler-Smith C, Krausz C. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J Clin Endocrinol Metab. 2009; 94(10):4016-22.
Tyler-Smith C, Krausz C. The will-o’-the-wisp of genetics–hunting for the azoospermia factor gene. N Engl J Med. 2009, 26;360(9):925-7
Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C. Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet. 2008;124(4):399-410.
Krausz C, Degl’Innocenti S, Nuti F, Morelli A, Felici F, Sansone M, Varriale G, Forti G. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet. 2006; 15;15(18):2673-81
Krausz C, Quintana-Murci L, Rajpert-De Meyts E, Jørgensen N, Jobling MA, Rosser ZH, Skakkebaek NE, McElreavey K. Identification of a Y chromosome haplogroup associated with reduced sperm counts. Hum Mol Genet. 2001;10(18):1873-7.
-Spanish Ministry of Health-Instituto Carlos III (FIS/FEDER-PI14/01250 and FIS/FEDER-PI17/01822)
-Italian Ministry of University and Research , PRIN 2015-2018
–Fundación Merck Salud: “Ayudas Merck de Investigación 2017 en el área de Investigación Clínica en Fertilidad”