|
|
|
|
|
|
WP6 - Clinical and therapeutic CDG research
CDG & Allies - Professionals and Patient Associations
International Network (CDG & Allies-PPAIN)
WG CDG Patient reported Outcomes (PROMs)
|
WG CDG Pharmacological chaperones |
WG CDG
|
WG CDG Patient reported Outcomes (PROMs)
Working Group Leader (WGL): Professor Liz Forbat (Faculty of Health Sciences at Australian Catholic University in 2015, as professor of palliative care).
Under the scope of this WG, our work will be focused on better understand CDG symptoms, the family symptom experience and the relational impacts of ill health.
Under the scope of this WG, our work will be focused on better understand CDG symptoms, the family symptom experience and the relational impacts of ill health.
Results obtained so far from this research project:
- Under the scope of a master degree program in health psychology, a student will start a master's thesis on September 2016. This involves conducting research for the pilot study conducted by Dr Forbat.
- A new innovative a complementary project will begin on October 2016. This project will be connect with Prf Luísa Barros' work. For more information,please download the official press release. Available in English and Portuguese.
|
| ||||
- Prof Dr David Coman (MD, Australia) joins CDG Patient Reported Outcomes WG and will act as a focal CDG clinical point in Australia. For more information,please download the official press release. Available in English and Portuguese.
|
| ||||
Any 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. Fulfill the contact form available below:
About Professor Liz Forbat
|
Biography:
Dr. Forbat received her Ph.D. in the psychology of care relationships from the Open University, UK, in 2001. After completion of her doctorate she worked as a post-doc at the Open University for two years and then the University of Edinburgh for three years. Dr. Forbat then served as senior research fellow at the University of Stirling for four years, before being appointed as co-director of the Cancer Care Research Centre at Stirling. In Dr. Forbat joined the Faculty of Health Sciences at Australian Catholic University in 2015, as professor of palliative care. Her interests as a research psychologist and family psychotherapist are focused on: (i) care relationships, (ii) care pathways and (iii) quality clinical care. In particular her team are currently working on understanding the outcomes of family meetings in palliative care, conflict between clinicians and families, and avoidable presentations to emergency departments. Her previous work in the field of pediatric palliative care has focused on rare life-limiting conditions, identifying research priorities, and documenting symptom profiles and impact on families. She aims/hopes to contribute for CDG lives by enhancing understandings of the impact of illness on psychosocial wellbeing. Dr. Forbat currently serves on the Editorial Board of the British Journal of Learning Disabilities and The Journal of Family Therapy. She is a member of the Australian Capital Territory palliative care clinical network.
List of publications in the field of CDG:
- Malcolm, C,. Adams, S,. Anderson, G,. Gibson, F,. Forbat, L. (2014) A relational understanding of sibling experiences of children with rare life-limiting conditions: findings from a qualitative study. Journal of Child Health Care. 18(3): 230-40.
- Malcolm C; Hain R; Gibson F; Adams S; Anderson G; Forbat L (2012) Challenging symptoms in children with rare life-limiting conditions: Findings from a prospective diary and interview study with families. Acta Paediatrica. 101(9):985-92.
- Malcolm, C,. Forbat, L,. Anderson, G,. Gibson, F,. Hain, R. (2011) Challenging symptom profiles of life-limiting conditions in children: A survey of care professionals and families. Palliative Medicine. 25(4): 374-381.
- Malcolm, C, Knighting, K,. Forbat, L. and Kearney, N (2009) Future research topics for children’s hospice care as identified and prioritised by key stakeholders: A Delphi study. Palliative Medicine. 23(5): 398–405.
About Luísa Barros
|
Pf Luísa Barros
|
Biography:
Prof. Luísa Barros received her/his Ph.D. in Clinical Psychology from the University of Lisbon, Portugal (1992). After completion of hers degree she was appointed as a Faculty Fellow in the Department of Psychology at the University of Lisbon. She is currently a Full Professor of Clinical and Health Psychology at the University of Lisbon and coordinates the Research Group on Health and Clinical Psychology – Familial and Individual Adaptation Processes. Her interests are focused on clinical and pediatric psychology. In particular her laboratory is currently working on understanding how parental processes are related to and affect children’s health and adaptation, both in healthy and chronically ill populations and developing measures of parenting processes and family adaptation.
List of 6 publications in the field of CDG:
List of current grants focused on CDG:
Prof. Luísa Barros received her/his Ph.D. in Clinical Psychology from the University of Lisbon, Portugal (1992). After completion of hers degree she was appointed as a Faculty Fellow in the Department of Psychology at the University of Lisbon. She is currently a Full Professor of Clinical and Health Psychology at the University of Lisbon and coordinates the Research Group on Health and Clinical Psychology – Familial and Individual Adaptation Processes. Her interests are focused on clinical and pediatric psychology. In particular her laboratory is currently working on understanding how parental processes are related to and affect children’s health and adaptation, both in healthy and chronically ill populations and developing measures of parenting processes and family adaptation.
List of 6 publications in the field of CDG:
- Pedro,H.; Barros,L. & Pereira,A.I.(2015).Pediatric Immunization Distress: A Cluster Analyses of Children's, Parents' and Nurses' Behaviors During the Anticipatory Phase. The Clinical Journal of Pain. DOI: 10.1097/AJP.0000000000000287.
- Pereira, A. I., Muris, P., Barros, L., Goes, R., Marques, T., & Russo, V. (2015). Agreement and discrepancy between mother and child in the evaluation of children’s anxiety symptoms and anxiety life interference. European Child & Adolescent Psychiatry, 24(3), 327-337. DOI: 10.1007/s00787-014-0583-2.
- Silva,C. & Barros,L. (2014). Pediatric Asthma Management: Study of the Family Asthma Management System Scale with a Portuguese Sample.Children's Health Care, 43: 203-220. Doi: 10.1080/02739615.2013.837822.
- Silva, C.; Barros, L. & Simões,F (2014). Health-related quality of life in pediatric asthma: children’s and parents’ perspectives. Psychology, Health & Medicine,14, 1-15. Doi: 10.1080/13548506.2014.969745
- Pereira, A. I., Barros, L., Muris, P. Mendonça, D. (2013). The Relationships Among Parental Anxiety, Parenting, and Children’s Anxiety: The Mediating Effects of Children’s Cognitive Vulnerabilities. Journal of Child and Family Studies. Doi 10.1007/s10826-013-9767-5.
- Silva,C. & Barros,L. (2013). Asthma knowledge, subjective assessment of severity and symptom perception in parents of children with asthma. Journal of Asthma. Doi:10.3109/02770903.2013.822082
List of current grants focused on CDG:
- Currently coordinating the Project: PainLess: OI youngsters take control, funded by the U.K.Brittle Bones Society, UL. (2015-2016).
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).
|
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 Dr David Coman
|
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 Merell Liddle
|
Merell Liddle has a BA in Politics and Economics and a Post Grad Dip in Securities Markets. She spent 15 years working in the areas of merchant banking, money market and takeovers regulation. She then completed a degree in Psychology and a Post Grad Dip in Health Psychology whilst having a family that included a child with complex disabilities who was later diagnosed as having CDG. Ms Liddle has a particular interest in speech and communication disabilities and has been active in the area of Augmentative and Alternative Communication. She has been extensively involved in CDG patient advocacy,support, and education and is committed to collaborative research to develop safe, effective therapies and treatments for CDG.
About Dorinda da Silva
|
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.
|
About Rita Francisco
|
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 – Professionals and Patient Associations International Network (CDG & Allies – PPAIN). She is deciphering the heart aspects of CDG. In addition, she is our CDG community social manager.
|
About Carlota Pascoal 2016:
|
Carlota Pascoal has a biochemistry degree by Faculdade de Ciências da Universidade de Lisboa, and is currently attending the Master course of Biochemistry for Health at Instituto de Tecnologia Química e Biológica - Universidade Nova de Lisboa.
Her main goal is to contribute for the improvement of Public Health, she is highly motivated and committed in her recently approved Master Thesis Project ''Assessing immune response in Congenital Disorders of Glycosylation''. This research is developed under the scope of CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN). |
Future opportunities and collaborations:
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. |
|
Powered by
