Brizola Evelise, MSc, PhD
Title of qualification awarded
- 2012-15: PhD in Child and Adolescent Health Program, Federal University of Rio Grande do Sul, UFRGS, Porto Alegre, Brazil.
- 2011-12: MSc in Child and Adolescent Health Program, Federal University of Rio Grande do Sul, UFRGS, Brazil.
- 2007-08: Specialization in Child Motor Development Federal University of Rio Grande do Sul, UFRGS, Brazil.
- 2002-06: Graduation in Physical Therapy Pontifícia Universidade Católica do Rio Grande do Sul, PUCRS, Porto Alegre, Brazil.
- From 2012: Researcher collaborator, Clinical Research Center - Service of Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
- 2014-15: Visiting fellow, Department of Physical Medicine and Rehabilitation Johns Hopkins University - School of Medicine, Baltimore, USA.
- 2009-10: Physiotherapist and Coordinator of Physiotherapy Service, Centro de Reabilitação de Porto Alegre, Brazil.
- 2007-09: Physiotherapist, Cooperativa Intersaúde – Porto Alegre, Brazil.
- 2006-07: Supervisor of Pediatric and Neonatal Physical Therapy Specialization Course, Federal University of São Paulo, São Paulo, Brazil.
- English: excellent;
- Italian: excellent;
- Portuguese: mother language;
- Spanish: basic.
Database, Software, IT tools:
- Human Collagen Mutation Database;
- Online Mendelian Inheritance in Man (OMIM);
- Human Phenotype Ontoly;
- Protein Data Bank;
- Chromas Lite software;
- SPSS (statistica).
- MS Office (Excel, Powerpoint, Word);
- OS: Windows, Linux.
International experience in clinical research on rare skeletal diseases such as Osteogenesis Imperfecta, Hypophosphatasia, Marfan syndrome, Ehler-Danlos syndrome. Work experience on both outpatient clinic and hospital, in neonatal and pediatric physiotherapy. Author of dozens of scientific publications in international journals, acts of scientific conferences and posters.
Experiences in International Networks on Rare Skeletal Diseases:
- From 2018: Clinical Patient Management System, European Reference Network on Rare Bone Disorders – ERN BOND (Rizzoli Orthopaedic Institute IRCCS, Department of Medical Genetics and Skeletal Rare Diseases);
- From 2017: Member of the "International Consensus for Rehabilitation in Children with Osteogenesis Imperfecta" (Uniklinik Köln/Foundation Care4BrittleBones);
- From 2015: Member of the Brazilian Network of Osteogenesis Imperfecta (Hospital de Clínicas de Porto Alegre, Service of Medical Genetics, Brazil).
- From 2015: Spine Trabecular Bone Score (TBS) Measurements as Indicator of Fracture Risk in Spinal Cord Injury and other Genetic or Acquired Disorders Associated with Decreased Bone Mass, Johns Hopkins University School of Medicine.
- From 2014: Bone metabolism biomarkers assessment in pediatric and adult patients with Osteogenesis Imperfecta exposed to drug treatment with bisphosphonates. Hospital de Clínicas de Porto Alegre, Johns Hopkins University.
- From 2012: Clinical Longitudinal multicentric study and molecular analysis in Osteogenesis Imperfecta in Brazil (Brazilian Network of Osteogenesis Imperfecta).
- 2012-13: A Study of Extension, open, safety, tolerability and long-term efficacy of GSK2402968 in individuals with Duchenne Muscular Dystrophy. Hospital de Clínicas de Porto Alegre, Clinical Research Group of Medical Genetics.
- 2012-13: ASB protocol 00-03: New Research Study of Patients with Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) protocol. Hospital de Clínicas de Porto Alegre, Clinical Research Group of Medical Genetics.
- 2009 -16: Physiotherapeutic Profile of Children with Osteogenesis Imperfecta. Hospital de Clínicas de Porto Alegre, Federal University of Rio Grande do Sul, Brazil.
- 2005-06: Monitoring and Health Education of Children Malnourished and obese delimited area of two basic units of the municipality of Porto Alegre. Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Clinical and/or Scientific interests
Rare genetic diseases; osteometabolic diseases; dysmorphology; neonatal, pediatric and developmental age physiotherapy; clinical research.