• About
  • Research
    • WP1 executive commitee
    • WP2 CDG Diagnosis
    • WP3 CDG Genetics
    • WP4 Biology to guide CDG therapies >
      • GlycoImmunology >
        • ImmunoCDGQ
        • ImmunoQ
      • Cardioendocrine
      • Liver
      • Neurology
      • Hematology
      • Ophtalmology
      • Skeletal Disease
    • WP5 SYSTEMS BIOLOGY AND BIOINFORMATICS >
      • Biomedical
      • Computational
      • Metabolomics
      • Systems Biology
    • WP6 CLINICAL AND THERAPEUTIC CDG RESEARCH >
      • Patients
      • Pharmacological
      • CDG ​Portugal
    • WP7 CDG psychology and educational research >
      • Psychology
      • Educational
      • Language
    • WP8 CDG Lobby and Representation >
      • Patient-Centered Care
      • Patient Representative
    • WP9 Communication and Dissemination >
      • Eva Morava
      • Jaak Jaeken
      • Paula Videira
      • Andrea Berarducci
      • David Cassiman
      • Bobby Ng
      • Sandro Bellinzis
    • WP10 Donations & Funds
    • WP11 Collaborations and Open positions
    • WP12 CDG & Allies Community Advisory Committee
  • Resources
  • Donate
  • CDG Maps
  • Blog
RESEARCH_CDG
  • About
  • Research
    • WP1 executive commitee
    • WP2 CDG Diagnosis
    • WP3 CDG Genetics
    • WP4 Biology to guide CDG therapies >
      • GlycoImmunology >
        • ImmunoCDGQ
        • ImmunoQ
      • Cardioendocrine
      • Liver
      • Neurology
      • Hematology
      • Ophtalmology
      • Skeletal Disease
    • WP5 SYSTEMS BIOLOGY AND BIOINFORMATICS >
      • Biomedical
      • Computational
      • Metabolomics
      • Systems Biology
    • WP6 CLINICAL AND THERAPEUTIC CDG RESEARCH >
      • Patients
      • Pharmacological
      • CDG ​Portugal
    • WP7 CDG psychology and educational research >
      • Psychology
      • Educational
      • Language
    • WP8 CDG Lobby and Representation >
      • Patient-Centered Care
      • Patient Representative
    • WP9 Communication and Dissemination >
      • Eva Morava
      • Jaak Jaeken
      • Paula Videira
      • Andrea Berarducci
      • David Cassiman
      • Bobby Ng
      • Sandro Bellinzis
    • WP10 Donations & Funds
    • WP11 Collaborations and Open positions
    • WP12 CDG & Allies Community Advisory Committee
  • Resources
  • Donate
  • CDG Maps
  • Blog

WP3 CDG Genetics

Picture

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


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”:

Picture

Claúdia Peixoto

Biography:

Claúdia Peixoto has a BScs'  degree in 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, concluiu o curso 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.
BE BRILLIANT
Picture

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. Consider to make a donation using Paypal, debit or credit card or bank transfer.
DONATE

Get in Touch With Us

Submit
Picture

ABOUTE  |  RESEARCH  |  RESOURCES  |  DONATE  |  BLOG


©2017 CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • About
  • Research
    • WP1 executive commitee
    • WP2 CDG Diagnosis
    • WP3 CDG Genetics
    • WP4 Biology to guide CDG therapies >
      • GlycoImmunology >
        • ImmunoCDGQ
        • ImmunoQ
      • Cardioendocrine
      • Liver
      • Neurology
      • Hematology
      • Ophtalmology
      • Skeletal Disease
    • WP5 SYSTEMS BIOLOGY AND BIOINFORMATICS >
      • Biomedical
      • Computational
      • Metabolomics
      • Systems Biology
    • WP6 CLINICAL AND THERAPEUTIC CDG RESEARCH >
      • Patients
      • Pharmacological
      • CDG ​Portugal
    • WP7 CDG psychology and educational research >
      • Psychology
      • Educational
      • Language
    • WP8 CDG Lobby and Representation >
      • Patient-Centered Care
      • Patient Representative
    • WP9 Communication and Dissemination >
      • Eva Morava
      • Jaak Jaeken
      • Paula Videira
      • Andrea Berarducci
      • David Cassiman
      • Bobby Ng
      • Sandro Bellinzis
    • WP10 Donations & Funds
    • WP11 Collaborations and Open positions
    • WP12 CDG & Allies Community Advisory Committee
  • Resources
  • Donate
  • CDG Maps
  • Blog