12 documents found, page 1 of 2
Congenital disorders of glycosylation (CDG)
Francisco, Rita; Brasil, Sandra; Poejo, Joana; Jaeken, Jaak; Pascoal, Carlota; Videira, Paula A.; dos Reis Ferreira, VanessaFunding Information: We also acknowledge the support of the Portuguese Foundation for Science and Technology (FCT) in the scope of the following fellowship: the European Commission through GlycoTwinning (Grant agreement 101079417). Publisher Copyright: © 2023, Institut National de la Santé et de la Recherche Médicale (INSERM).; Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family o...
The road to successful people-centric research in rare diseases
Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Jaeken, Jaak; Liddle, Merell; Videira, Paula A.; Dos Reis Ferreira, VanessaFunding Information: This work is financed by national funds from FCT—Fundação para a Ciência e a Tecnologia, I.P., in the scope of the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB. Publisher Copyright: © 2022, The Author(s).; BACKGROUND: Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection fac...
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research...
Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Edmondson, Andrew C.; Jaeken, Jaak; Videira, Paula A.; de Freitas, CláudiaFunding: the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB and the project LA/P/0045/2020 of the Associate Laboratory in Chemical Engineering (ALiCE), the Base. DL57/2016/CP1336/CT0001. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.; Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effe...
A Participatory Framework for Plain Language Clinical Management Guideline Deve...
Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Inês; Miller, AndreaSandra Brasil was supported by CDG & Allies—PPAIN funding. Publisher Copyright: © 2022 by the authors.; Background: Clinical management guidelines (CMGs) are decision support tools for patient care used by professionals, patients, and family caregivers. Since clinical experts develop numerous CMGs, their technical language hinders comprehension and access by nonmedical stakeholders. Additionally, the views of a...
Systematic Review
Brasil, Sandra; Allocca, Mariateresa; Magrinho, Salvador C.M.; Santos, Inês; Raposo, Madalena; Francisco, Rita; Pascoal, Carlota; Martins, TiagoR.F. and acknowledge the funding from the Fundação para a Ciência e Tecnologia (FCT), Portugal. S.B. was supported by CDG & Allies—PAIN funding. M.A. acknowledges PhD program at the DISTABIF, Università degli Studi della Campania “Luigi Vanvitelli”, PhD fellowship POR Campania FSE 2014/2020 “Dottorati di Ricerca Con Caratterizzazione Industriale”.; Advances in research have boosted therapy development for conge...
Stakeholders' views on drug development
Monticelli, Maria; Francisco, Rita; Brasil, Sandra; Marques-da-Silva, Dorinda; Rijoff, Tatiana; Pascoal, Carlota; Jaeken, Jaak; Videira, Paula A.BACKGROUND: Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous efforts of the CDG medical/scientific and patient communities. Hence, CDG drug development is a popular research topic. The main aim of this study was to understand current and steer futur...
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, SarahP. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (...
Artificial Intelligence in Epigenetic Studies
Brasil, Sandra; Neves, Cátia José; Rijoff, Tatiana; Falcão, Marta; Valadão, Gonçalo; Videira, Paula A.; dos Reis Ferreira, VanessaFunding Information: Funding. This work was supported by the CDG Professionals and Patient Associations International Network (CDG & Allies ?PPAIN) and Portuguese Association for Congenital Disorders of Glycosylation (APCDG). The authors confirmed independence from any sponsors.; More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment....
New Insights into Immunological Involvement in Congenital Disorders of Glycosyl...
Francisco, Rita; Pascoal, Carlota; Marques-da-Silva, Dorinda; Brasil, Sandra; Pimentel-Santos, Fernando M; Altassan, Ruqaiah; Jaeken, JaakSFRH/BD/124326/2016 SFRH/BD/138647/2018; Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack of robust data. To better characterize immune-related manifestations' prevalence, relevance, and quality-of-life (QoL) impact, we developed electronic questionnaires targeting (1) CDG p...
Artificial intelligence (AI) in rare diseases: Is the future brighter?
Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Ferreira, Vanessa dos Reis; Videira, Paula A.; Valadão, GonçaloSFRH/BD/138647/2018. SFRH/BD/124326/2016.; The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds great promise in this area and is already being successfully applied to basic research, diagnosis, drug discovery, a...