Latest News

Mechanism of action of proteostasis activators
The research group U746 CIBERER from the Madrid and led by Dr. Belén Pérez just published very promising results regarding a possible therapeutic strategy for PMM2-CDG. Dr. Bélen's team evaluated the effect of proteostasis regulators in the stability and activity of several variants of PMM2 and showed their potential to rescue the PMM2 defect.
Recording of the webinar "Let's talk CDG?". This webinar took place on 19 May 2020 and it was facilitated by Miligrama. Prof Paula Videira and Rita Francisco were the sesion speakers.
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At this time of crisis and with the health, safety and well-being of patients and caregivers as its top priorities, the National Organization for Rare Disorders (NORD®) launched its COVID-19 Critical Relief Program to provide much-needed assistance to members of the rare community affected by the COVID-19 pandemic. The program provides financial relief that may be utilized to support critical, non-medical needs.
Congratulations to Dr Andrew Edmondson and to his team for this great international collaborative study describing novel GALNT2-CDG.
👱‍♀️Holly Carmichael is a marvellous CDG Mom and Advocate. She is full-heartedly💚 committed to making sure her daughter👧 has the best life possible and Holly works every day to ensure that’s what she gets.
👨‍⚕️Prof. David Coman is a Metabolic Pediatrician making sure CDG families and patients from Down under are well-cared for👪. He is hopeful about the future of CDG patients and highlights the fact that we are now openly discussing different treatments for CDG.💊🧬