WP6 - Clinical and therapeutic CDG research

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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN)

WG CDG Patient reported Outcomes (PROMs)

WG CDG Pharmacological chaperones

WG CDG
​Portugal

Working Group (WG) Pharmacological chaperones

Working Group Leader (WGL): Dr Giuseppina Andreotti (Researcher at Institute of Biomolecular Chemistry (ICB), Consiglio Nazionale delle Ricerche (CNR), Italy).

This WG continues the efforts of Dr Giuseppina Andreotti’s centred on the project Pharmacological chaperones (PC) to cure PMM2-CDG: development of drugs and identification of new targets (Telethon Foundation, Italy). The aim is to benefit from existing resources, equipments and techniques available among the collaborators of our network CDG & Allies – PPAIN in order to: (1) help checking the feasibility of the therapy with PC for PMM2-CDG; (2) to perform tests in vitro and (3) to test in patient cells.
Results obtained so far from this research project:
  • One project was written. It aims at applying Dr Andreotti’s tools and techniques to Pf Paula Videira’s work focused on immunological aspects for CDG. We attempt to characterize the immune CDG cell functions using different PC already available at Dr Andreotti’s laboratory.
Currently, we are identifying and actively applying for funding to be able to move forward. If you wish to donate for our continuous research efforts please go HERE.
Any student, research groups, researchers, clinicians, patient organisations or other stakeholders who would like to become more involved within this project, are most welcome to get in touch to discuss possible future opportunities and collaborations. Fulfill the contact form available below:

About Dr Giuseppina Andreotti
DR Giuseppina Andreotti
 
Institute of Biomolecular Chemistry - National Research Council of Italy (ICB-CNR)
 
Email: gandreotti@icb.cnr.it 

Biography:
Dr. Giuseppina Andreotti received her Ph.D. in Biochemistry from the University of Naples Federico II in 1996; then she joined the Institute of Biomolecular Chemistry (ICB, formerly Istituto per la Chimica delle Molecole di Interesse Biologico, CNR) with a research fellowship position.
She was appointed as a permanent member of ICB in 2001. Her research interests are mainly in the field of protein chemistry. Her laboratory is currently working on proteins responsible for few rare diseases (Fabry disease, CDG) in order to identify/develop new drugs to treat these diseases. For this purpose structural and functional characterization studies are performed. Her work in the field of CDG is focused on PMM2-CDG.  Actually she is a basic scientist, she is looking for molecules that enhance residual activity of the mutant PMM2. These molecules can have an immediate impact for PMM2-CDG patients, if they are identified among drugs already approved for other pathologies, otherwise they should go through clinical trials.
She is also very committed to divulgation and public engagement activities and  she is member of PREDIR, Public relations with the territory, results dissemination and scientific formation (one of the Institute Services of Common Interest within the ICB).
Selected publications:
  • G. Andreotti, E. Pedone, A. Giordano & M.V. Cubellis. Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. Molecular Genetics & Genomic Medicine (2013), 1(1), 32-44. doi: 10.1002/mgg3.3
  • G. Andreotti, I. Cabeza de Vaca, A. Poziello, M.C. Monti, V. Guallar, M.V. Cubellis. Conformational response to ligand binding in phosphomannomutase2, insights into inborn glycosylation disorder. J Biol Chem (2014), 289(50):34900-10. doi: 10.1074/jbc.M114.586362.
  • G. Andreotti, M.C. Monti, V. Citro, M.V. Cubellis Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. PLoS ONE (2015) 10(10): e0139882. doi:10.1371/journal.pone.0139882
  • G. Andreotti, M. Monticelli, M.V. Cubellis. Looking for protein stabilizing drugs with thermal shift assay. Drug Testing and Analysis (2015). DOI 10.1002/dta.1798
  • B. Hay Mele, V. Citro, G. Andreotti, and M.V. Cubellis. Drug repositioning can accelerate discovery of pharmacological chaperones. Orphanet Journal of Rare Diseases, (2015) 10:55. 10.1186/s13023-015-0273-2

Current research projects dedicated to CDG:
Pharmacological chaperones to cure genetic diseases: development of drugs and identification of new targets G. Andreotti (PhD, researcher); M.V. Cubellis (professor); C.Cimmaruta (PhD student); V. Citro (post doc); M. Monticelli (master degree student); L. Liguori (graduate student).
 
Current grants focused on CDG
Telethon 2012: Pharmacological chaperones to cure genetic diseases: development of drugs and identification of new targets.
About Vanessa Ferreira
From her unique perspective of being a sister of a patient with a rare disease named Congenital Disorders of Glycosylation (CDG) and Cell Biologist, Vanessa founded the Portuguese CDG Association and other Rare Metabolic Disorders (APCDG-DMR). ​​
Vanessa’s personal journey with her sister, combined with the community needs, have been the impetus to focus the APCDG activities.
​Vanessa received a bachelor’s degree in Biological Sciences from Badajoz University (Spain). She holds a PhD (Sc.D.) in Cell and Developmental Biology from the Center for Genomic Regulation, University of Pompeu Fabra, Biomedical Research Park in Barcelona (PRBB). In 2014, she completed her background with an International MBA from IAE de Paris, Sorbonne Graduate Business School.

Future opportunities and collaborations:

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Our work is publicly available to help the CDG community and related rare disease communities. Importantly, we do not receive government funding. We rely solely on donations in order to continue our projects.

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