APCDG - Congenital Disorders of Glycosylation
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Work Package 3 - CDG Genetics

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

About Claúdia Peixoto

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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.

Open position 

Inés Summer Internship CDG for Undergraduate Students:

Currently the WP3 expressed interest in hosting a student to conduct summer research focused on genetics for CDG. This position is available under the scope of the “1st Inés Summer Internship CDG Program for Undergraduate Students”. More information is available HERE.

Future opportunities and collaborations:

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Support our research, advocacy, awareness and education efforts now!

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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Consider to make a donation using Paypal, debit or credit card or bank transfer. 
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  • About US
    • What we do
    • Who we help >
      • Research
  • Resources
    • Rare CDG
    • Publications
    • Guia Metabolica
    • CDG Facts
    • Task Force CDG Communication >
      • PMM2-CDG (CDG Ia)
      • PGM1-CDG (CDG It)
      • ALG6-CDG (CDG Ic)
  • EDUCATION
  • Awareness
    • Get involved World CDG Awareness Day 2019 >
      • Go Social World CDG Awareness Day 19
      • Spread World CDG Awareness Day 19
      • Plan An Event World CDG Awareness Day 19
      • Frame your CDG Awareness Campaign 19
      • Go green! Think CDG! ©Campaign 19
      • Volunteer World CDG Awareness Day 19
      • Press kit World CDG Awareness Day 19
    • Map of events for World CDG Awareness Day 2019
    • CrowdCDG
    • Awareness Day 2018
    • Awareness Day 2017
    • Awareness Day 2016
    • Rare Diseases
  • Community
    • Join Us - Membership
    • CDG Patient Groups
    • Empowerment
  • Events
    • 1st CDG Satellite Meeting
    • Speakers - World Conference on CDG 2019
    • Registrations - World Conference on CDG 2019
    • Poster submission - World Conference on CDG 2019
    • Follow up - World Conference on CDG 19
    • Volunteer Registration - World Conference on CDG 2019
    • Previous Edition World Conference on CDG 2017 >
      • Follow up - World Conference on CDG 17
      • Speakers - World Conference on CDG 17
  • DONATE
  • BLOG