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Work Package 6 - Clinical and therapeutic CDG research
CDG & Allies - Professionals and Patient Associations
International Network (CDG & Allies-PPAIN)
This Work Package (WP) is formed by several Working Groups (WGs):
WG CDG Patient reported Outcomes (PROMs)
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WG CDG Pharmacological chaperones |
WG CDG
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About Prof Dr Bélen Pérez
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Dr. Belén Pérez received her Ph.D. in Biological Sciences from the Universidad Autónoma de Madrid in 1994, which she concluded with an excellence prize. Currently, she is an Associate Professor of Biochemistry and Molecular Biology working as lecturer and researcher at the Molecular Biology Department and Centro de Biología Molecular, where she teaches human genetics and biochemistry. She is the head of the Genetic Unit at Centro de Diagnóstico de Enfermedades Moleculares (CEDEM) , head of the group belonging to the network of Spanish Rare Diseases (CIBERER, www.ciberer.es) and head of the group of IDIPAZ (www.idipaz.es) Her interests are focused on human genetics, diagnosis and new pharmacological therapies. In particular, her laboratory is currently working on developing targeted therapies to correct genetic defects, namely antisense therapy and pharmacologic chaperones mainly in organic acidurias and CDG. Her work in the field of CDG is focused on therapy development and genetic diagnosis using cutting-edge genomic technologies. She hopes to contribute for CDG lives by both promoting an accurate and fast CDG diagnosis and to create effective therapies to treat this group of metabolic disorders. Dr. Pérez is author of over 130 scientific articles published in international peer-reviewed magazines.
List of 6 publications in the field of CDG:
- Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B. Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG. Hum Mutat. 2016 Oct 24. doi: 10.1002/humu.23138.
- Yuste-Checa P, Medrano C, Gámez A, Desviat LR, Matthijs G, Ugarte M, Pérez-Cerdá C, Pérez B. Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG. Clin Genet. 2015;87(1):42-8.
- Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. Hum Mutat. 2015 Sep;36(9):851-60
- Pérez B, Medrano C, Ecay MJ, Ruiz-Sala P, Martínez-Pardo M, Ugarte M, Pérez-Cerdá C. (2013) A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. J Inherit Metab Dis. 2013 May;36(3):535-42
- Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B. Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J Inherit Metab Dis. 2011 Aug;34(4):929-39
- Vega AI, Pérez-Cerdá C, Desviat LR, Matthijs G, Ugarte M, Pérez B. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat. 2009 May;30(5):795-803
Working Package Clinical and Therapeutic CDG Research welcomes a new Member: Prof Dr Belén Pérez González
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Prof Dr Bélen Pérez González (PhD, Spain) has accepted the invitation of joining CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN). Prof Pérez González has been developing work in the field of CDG related to diagnosis and therapy development. Consequently, it is with great joy and expectation that we welcome her into our Reserach Network.
For more information, please download the press release below: |
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APCDG launches two pionneer projects to uncover and evaluate CDG symptoms and their emotional impact among patients and family members
Two innovative and complementary projects are underway!
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These projects will develop better insight into families of children with rare illnesses. CDG is a serious and chronic rare metabolic disease for which there is no cure. The uncertainty, conflicting information, misdiagnosis, frequent trips to different doctors and specialists cause stress and anxiety in patients and in their family members. In order to boost visibility for the emotional needs of CDG patients and family members, the Portuguese Association for CDG (APCDG) is leading two pioneer research projects in collaboration with Pf Liz Forbat (Australia) and Pf Luísa Barros (Portugal). Both projects aim to better understand CDG symptoms, the family experience with the disease, the emotional impact and the relational impacts of ill health.
Taking advantage of the connections and resources created by CDG & Allies - Professionals and Patient Associations International Network, two patient-centred research projects will begin this month. Simultaneously, a new social media campaign will also have its debut. #CDGBelieve/#CDGAcredita aims to motivate and inspire the population in general, and the CDG community in particular. |
For more information,please download the official press release below, available in English and Portuguese.
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Future opportunities and collaborations:
Support our research, advocacy, awareness and education efforts now!
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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. Consider to make a donation using Paypal, debit or credit card or bank transfer. |
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