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WP4 - Biology to guide CDG therapies
CDG & Allies - Professionals and Patient Associations
International Network (CDG & Allies-PPAIN)
WG CDG & GlycoImmunology
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WG CDG & Cardioendocrine Health
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WG CDG &
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WG CDG & Neurology
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WG CDG & Hematology
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WG CDG & Ophtalmology
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Working Group (WG) CDG & Ophtalmology
The face of the CDG researchers involved in the project “Ophtalmology in CDG”:
About Dr David Coman
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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:
1. 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 TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. PMID: 26805781
2. 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
3.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
4. 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
5. 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
6. 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
2. 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
3.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
4. 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
5. 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
6. 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
About Vanessa Ferreira
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).
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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. |
About Rita Francisco
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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. 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 - PPAIN. She is mapping funding options for research on CDG and related diseases, as well as deciphering the heart aspects of CDG. In addition, she is our CDG community social manager.
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Open position(s)
Inés Summer Internship for Undergraduate Students:
Currently the Working group CDG & Ophtalmology 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 Program for Undergraduate Students 2016”. More information is available HERE. The research project will be coordinated by Pr Paula Videira and Dr Vanessa Ferreira (APCDG).
Inés Summer Internship for Undergraduate Students:
Currently the Working group CDG & Ophtalmology 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 Program for Undergraduate Students 2016”. More information is available HERE. The research project will be coordinated by Pr Paula Videira and Dr Vanessa Ferreira (APCDG).
Future opportunities and collaborations:
Support our research, advocacy, awareness and education efforts now!
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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. |
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