|
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN)
Where families’ own needs and ideas are transformed into research projects.
Work Package 4
Biology to guide CDG therapies
This Work Package (WP) is formed by several Working Groups (WGs)
|
|
Working Group (WG) CDG & Ophthalmology
Working Group Leader (WGL): Open position
Eye disease is present across various CDG types. Why? Because glycans are very relevant for proper eye development and function.
Eye anomalies affect different ocular compartments, ranging from external anomalies (such as ptosis or proptosis), to corneal (e.g myopia), retinal (retinitis pigmentosa) or the optic nerve defects (e.g optic nerve atrophy), among many others. In fact, eye abnormalities are often one of the first clinical signs observed in CDG patients (e.g strabismus in PMM2-CDG) and can guide and accelerate diagnosis. Additionally, there are eye problems which are highly characteristic and common in some CDG types, such as cataracts in XYLT2-CDG, microphtalmia in FKRP-CDG, Peters' anomaly in B3GALTL-CDG or retinitis pigmentosa in PMM2-CDG (predominantly in adults).
Many CDG patients are visual learners, thus good eye health is very important to promote development and to ensure the best quality of life to CDG children and adults.
Results obtained from this research project:
Eye disease is present across various CDG types. Why? Because glycans are very relevant for proper eye development and function.
Eye anomalies affect different ocular compartments, ranging from external anomalies (such as ptosis or proptosis), to corneal (e.g myopia), retinal (retinitis pigmentosa) or the optic nerve defects (e.g optic nerve atrophy), among many others. In fact, eye abnormalities are often one of the first clinical signs observed in CDG patients (e.g strabismus in PMM2-CDG) and can guide and accelerate diagnosis. Additionally, there are eye problems which are highly characteristic and common in some CDG types, such as cataracts in XYLT2-CDG, microphtalmia in FKRP-CDG, Peters' anomaly in B3GALTL-CDG or retinitis pigmentosa in PMM2-CDG (predominantly in adults).
Many CDG patients are visual learners, thus good eye health is very important to promote development and to ensure the best quality of life to CDG children and adults.
Results obtained from this research project:
- One publication at the international peer-reviewed journal JIMD: Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review.
- 1 poster presentations: 1 at the International CDG scientific symposium
- 1 oral presentation at SPDM symposium 2018
The faces of the CDG researchers involved in the project
“Ophthalmology in CDG”
“Ophthalmology in CDG”
|
Dr David ComanBiography:
|
David graduated from the University of Queensland in 1995 and completed his General Paediatric Training in 2005 and sub-specialty (Metabolic Medicine and Clinical Genetics) training in 2006. David has an active interest in research and was awarded a Masters of Philosphy from the University of Queensland in 2007. David is the Medical Director of Paediatrics at the Wesley Hospital, the Academic Lead for Paediatrics for the UnitingCare Clinical School, and a staff-specialist at the Lady Cilento Children’s Hospital. David is currently involved in multiple research projects aimed at novel disease discovery, improved diagnostic testing and treatments for children with Inherited Genetic Disorders. His particular clinical and research interests include Galactosaemia and CDG. A greater understanding and coordination of translational research from the bench and back to the bedside is critical to improve quality of life for patients with rare diseases like CDG.
List of the 6 publications with a major impact for CDG research:
List of the 6 publications with a major impact for CDG research:
- Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO
- 2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. PMID: 268057812. Bursle C, Brown D, Cardinal J, Connor F, Calvert S, Coman D. DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion. JIMD Rep. 2016 Aug 2. [Epub ahead of print] PMID: 27481510
- Coman and Gole Glycobiology and the Paediatric Eye in Health and Disease. Pediatr Therapeut 2013, S3 http://dx.doi.org/10.4172/2161-0665.S3-004
- Coss KP, Byrne JC, Coman DJ, Adamczyk B, Abrahams JL, Saldova R, Brown AY, Walsh O, Hendroff U, Carolan C, Rudd PM, Treacy EP. IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia. Mol Genet Metab. 2012 Feb;105(2):212-20. doi: 10.1016/j.ymgme.2011.10.018. PMID: 22133299
- Coman DJ, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, Treacy EP. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr Res. 2010 Mar;67(3):286-92. doi: 10.1203/PDR.0b013e3181cbd542. PMID: 19952866
- Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R. The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet. 2008 Jun;73(6):507-15. doi: 10.1111/j.1399-0004.2008.01015.x. Review. PMID: 18462449
|
Vanessa FerreiraAbout:
|
Email: sindromecdg@gmail.com
From her unique perspective of being a sister of a patient with a rare disease named Congenital Disorders of Glycosylation (CDG) and Cell Biologist, Vanessa founded the Portuguese CDG Association and other Rare Metabolic Disorders (APCDG-DMR).
Vanessa’s personal journey with her sister, combined with the community needs, have been the impetus to focus the APCDG activities.
Vanessa received a bachelor’s degree in Biological Sciences from Badajoz University (Spain). She holds a PhD (Sc.D.) in Cell and Developmental Biology from the Center for Genomic Regulation, University of Pompeu Fabra, Biomedical Research Park in Barcelona (PRBB). In 2014, she completed her background with an International MBA from IAE de Paris, Sorbonne Graduate Business School.
Vanessa’s personal journey with her sister, combined with the community needs, have been the impetus to focus the APCDG activities.
Vanessa received a bachelor’s degree in Biological Sciences from Badajoz University (Spain). She holds a PhD (Sc.D.) in Cell and Developmental Biology from the Center for Genomic Regulation, University of Pompeu Fabra, Biomedical Research Park in Barcelona (PRBB). In 2014, she completed her background with an International MBA from IAE de Paris, Sorbonne Graduate Business School.
The faces of CDG researchers involved in the project
“Ophthalmology for CDG and Allies”
“Ophthalmology for CDG and Allies”
Carlota Pascoal |
Dorinda Silva |
Rita Francisco |
Dr da Silva, received her Biochemistry degree in University of Algarve – Faro, Portugal. She defended her PhD thesis on “Study of redox and calcium transport systems microdomains in the plasma membrane of neurons”, in University of Extremadura – Badajoz, Spain. Her work is developed under the scope of the CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN).She integrated our working group since beginning February 2016. Dr Dorinda is highly motivated to make a difference in patients lives.
Carlota Pascoal has a biochemistry degree by Faculdade de Ciências da Universidade de Lisboa, and has concluded her MScs' on Biochemistry for Health at Instituto de Tecnologia Química e Biológica - Universidade Nova de Lisboa. In March 2018, she was awarded the 4th Liliana Scientific Initiation Scholarship.
Her main goal is to contribute for the improvement of Public Health, she is highly motivated and committed to''Assessing immune response in Congenital Disorders of Glycosylation''. Her research is developed under the scope of CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN).
Her main goal is to contribute for the improvement of Public Health, she is highly motivated and committed to''Assessing immune response in Congenital Disorders of Glycosylation''. Her research is developed under the scope of CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN).
Rita Francisco has a Masters’ degree in Molecular Genetics by the University of Minho and among her main scientific interests are genetic disorders. In 2016, she was awarded the 3rd Liliana Scientific Scholarship. In March 2017, she won a PhD scholarship awarded by Fundação para as Ciências e Tecnologias (FCT) and she is now dedicating herself to unravelling the immunological aspects of CDG. Rita is highly driven and motivated to make a difference in the lives of adults and children living with Congenital Disorders of Glycosylation (CDG). Her work is developed under the scope of the CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN). In addition, she is our CDG patient advocate manager and CDG International Patient Relations.
Open position!
Inés Summer Internship CDG for Undergraduate Students:
Currently the WP2 expressed interest in hosting a student to conduct summer research focused on diagnosis for CDG.
This position is available under the scope of the “1st Inés Summer Internship CDG Program for Undergraduate Students”.
This position is available under the scope of the “1st Inés Summer Internship CDG Program for Undergraduate Students”.
|
Support our research,
|
