#RareDiseasesNews:95% of all rare diseases still lack a treatment. Humans have exhausted all the natural resources on Earth and preserving the environment has to be a top priority for all. We need to get criative!
Is there a way to tackle both simultaneously? 💚🤔
Full text available HERE
#RareDiseasesNews:Induced Pluripotent Stem (iPS) are a recent research model that can greatly contribute to study disease mechanisms, specificities and heterogeneity.It's started to be used in #CDG.
Here is an example of its potential in another rare Disease #DMD 👍👨🔬
Learn more HERE
#RareDiseasesNews: The tech revolution is taking healthcare by storm. Although it has its perks "As patient data becomes more accessible for proper treatment and diagnosis,(...)", it also has its perils "it (patient's data) also becomes more vulnerable.".
How can we maximize the benefits while minimizing the risks?
Join this discussion!
Leave your comment below - Share & Like this post!
Read more HERE
#RareDiseasesNews: After promising pre-clinical results, a #GeneTherapyto treat Limb-girdle dystrophy, a rare type of muscle dystrophy, is moving to clinical trials.
Know more about this auspicious news HERE
#RareDiseasesNews:A new drug screening method promises to accelerate therapies' discovery.
It's designed to speed up the development of compounds targeting enzymes.
#CDG are caused by enzyme deficiencies.
Visit HERE to know more.
#RareDiseasesNews: When Akshansh Gupta was born, doctors thought he was dead.
He suffers from a very severe form of Cerebral palsy. NOW, he has finished his PhD..
.Taking about defeating all the odds, right?👏♿
#CDGandAllies has a new collaborator - Sandra Brasil!
Sandra has been working with pharmacological chaperones in metabolic diseases, including #CDG. Se is joining for now the Working Group dedicated to Patient Reported Outcomes (visit HERE ).
Thank you Sandra for volunteering to do #PatientCentric research!
We are very grateful and excited to have you join us!
Learn more about Sandra HERE
#CDGResearch Have you been looking for CDG&Allies-PPAIN research posters?
You can access them and other resources HERE
You just need to fill in the form with your name,email, indicate which resource(s) you'd like us to send you and please also tell why you want it (the why can be e.g having a CDG child). If you have any trouble, please write to firstname.lastname@example.org
Thank you 💚 for raising #CDGAwareness and supporting #CDGResearch
Share & Like this post!
#RareDiseasesNews: Your eyes may reveal more than you know!
Researchers suggest that detailed eye examination may be used to make an early diagnosis of progressive neurologic conditions, such as #Huntingtons.
Improving diagnosis is essential to develop timely therapies!
Read the full article HERE
#CDGandAllies has a new collaborator - Sandra Brasil! Sandra has been working with pharmacological chaperones in metabolic diseases, including #CDG. Se is joining for now the Working Group dedicated to Patient Reported Outcomes (http://www.researchcdg.com/patients.html). Thank you Sandra for volunteering to do #PatientCentric research! We are very grateful and excited to have you join us!
Learn more about Sandra HERE