Group leader: Giancarlo Panzica
COST European Cooperation in Science and Technology
DSDnet - A systematic elucidation of differences of sex development
2013-2016 | EU Framework Programme Horizon 2020
Coordinator: Olaf Hiort, Lubecca (Germany)
The 22 DSDnet Member Countries are: Austria, Belgium, Italy, Israel, Bulgaria, Netherlands, Croatia, Norway, Cyprus, Poland, Denmark, Romania, Estonia, Slovenia, Finland, Spain, France, Sweden, Germany, Switzerland, Hungary, United Kingdom
Differences or Disorders of Sex Development (DSD) constitute a complex group of rare diseases that are caused by chromosomal, genetic and endocrine metabolic disturbances that affect the endocrine-reproductive system, thereby modulating the sexual phenotype of a given person. DSD poses great challenges for our understanding of sex and gender development in biology, medicine and societal issues.
This COST Action will link leading international scientists, clinicians, and stakeholders in the field to characterise DSD with the aim of a diagnosis to all people with DSD with structured, potentially personalised, management and therapies. The Action will aid to the understanding of the clinical heterogeneity as well as reveal the pathophysiological commonalities between different forms of DSD at the molecular level. It will additionally benefit the science in rare diseases of the international community and also the formation of a European Reference Network.
more information > wwww.cost.eu | www.dsdnet.ue
COST - European Cooperation in Science and Technology
GnRH NETWORK - Neuroendocrine Control of Reproduction
2012-2016 | EU Framework Programme Horizon 2020
Coordinator: Ulrich Boehm, Homburg (Germany)
GNRH Network: Belgium, Italy, France, New Zealand, Switzerland, Hungary, United Kingdom, Finland, Romania
This grant is devoted to developing an international network of clinicians and investigators in the fields of reproductive medicine and neuroscience. Specifically we aim to explore the causes of GnRH deficiency, including Kallmann syndrome. Broadly, this project is intended to foster new collaborative relationships, attract and develop young investigators in the field, accelerate the pace of scientific discovery, educate patients and translate these findings to improved patient care.
Our group is involved in working group 3 Basic Science
The focus of Basic Science Working Group (WG3) is to bring together leading European experts in the field of neuroendocrine control of reproduction.
• Develop an interactome of basic expertise among Action members
• Lead creation of a European Reproductive Animal Model Clinic
• Help prioritize candidate genes identified through whole exome sequencing based on expression studies, cellular studies, and in silico analyses
• Identify biologically plausible candidate genes for GnRH deficiency through studies in model systems which will then be tested for mutations in the patients' DNA samples by the Genetics and Bioinformatics Working Group (WG2)
• Characterise the roles of novel disease genes in the neuroendocrine control of reproduction thus providing both validation and mechanistic insight
more information > www.gnrhnetwork.eu
Central Hypogonadism, Group NICe
2013 - Permanent Study Group | Italian Society of Endocrinology
Coordinator: Luca Persani, Milano (Italy)
The central hypogonadism (ICe) comprise a family of rare diseases characterized by gonadal failure and infertility secondary to a defect in the hypothalamic-pituitary axis. In congenital forms, altering pituitary-gonadal may be associated with other defects (eg. Olfactory, neurological and kidney) in Kallmann syndrome (SK). Late diagnosis and incorrect therapeutic management of these conditions may cause serious physical and psychosocial negative consequences.
In addition to the neonatal onset forms, that have a frequency still poorly defined, there are also forms of ICe much more common: the so-called functional or reversible forms that can affect both teenagers and adults subjects with special eating or habits behavior (strenuous exercise, eating disorders) or psycho-physical problems (stress, adoptions, malabsorption, etc.).
Finally, there are also ICe idiopathic forms with adulthood onset.
These diseases are characterized by a considerable heterogeneity of clinical onset and framework severity that are also reflected in a variability in the response to currently available therapies.
more info > www.societaitalianadiendocrinologia.it
EDCs Endocrine-Disrupting Chemicals Task Force
2015- 2017 | Endocrine Society
Coordinator: Jean-Pierre Bourguignon, Liege (Belgium)
Co-chaired by R. Thomas Zoeller, PhD, and Jean-Pierre Bourguignon, MD PhD, the EU EDC Task Force comprises leading endocrinologists from Belgium, France, Germany, Italy, and the United Kingdom. Task Force members are Barbara Demeneix, PhD, DSC; Richard Ivell, PhD; Josef Koehrle, PhD; Adriana Maggi, PhD; GianCarlo Panzica, PhD; and Remy Slama, PhD.
On April 1, 2015, the Endocrine Society convened endocrine experts from key European Union (EU) countries in Brussels, Belgium, to meet with EU policymakers on the issue of endocrine-disrupting chemicals (EDCs).
As part of a strategic initiative to ensure endocrine principles are incorporated into global EDC regulatory policies, the Endocrine Society established its EU EDC Task Force to inform and advocate with members of the European Parliament (MEPs) and officials within the EU Directorates General in charge of chemicals laws and regulations.
more information > www.endocrine.org
Involvement of estradiol on feeding neurohormonal circuit programming in the rat
2016- 2019 | Spanish Government, Ministry of the Economy
Coordinator: Paloma Collado, UNED Madrid (Spain)
The aim of the present project is to investigate if estradiol during first stage of development participates in the programming/organization of the neurohormonal circuit of food intake as well as in the expression of the feeding behaviour. Moreover, in this project we investigate the estrogen receptor pathway, ERα, ERβ o GPR30, throughtout estradiol exert these effects.