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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN)
Where families’ own needs and ideas are transformed into research projects.

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Work Package 3 
CDG Genetics

Congenital disorders of glycosylation (CDG) are a group of autosomal recessive genetic disorders caused by the alteration in synthesis and structure of protein and lipid glycosylation. Over 100 human genetic disorders result from mutations in glycosylation-related genes. In 2013, a new glycosylation disorder was reported every 17 days. This trend will probably continue given that at least 2% of the human genome encodes glycan-biosynthesis and recognition proteins (Freeze H, et al. 2014).

The face of the CDG researcher involved in the project “Exploring genetics for CDG”:

Claúdia Peixoto

Biography:

Claúdia Peixoto is finishing her degree of Pathological Anatomy, Cytological and Tanatological of ESTSP (School of Allied Health Sciences). She joined our CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN) in March 2016 with the aim of conducting a research project required to obtain her academic degree and also to help and to inform and develop the diagnosis and treatment of CDG, which is being a personal achievement.

Cláudia Peixoto, aluna de último ano de Anatomia Patológica, Citológica e Tanatológica da ESTSP (Escola Superior de Tecnologia da Saúde do Porto). Integrou no grupo de trabalho em Março de 2016 com o objetivo de realizar um projeto de investigação necessário para a formação académica mas também poder ajudar e dar a conhecer e a desenvolver o diagnóstico e tratamento da CDG, sendo também uma realização pessoal.

Future opportunities and collaborations

Any Master thesis 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.

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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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