Burlo Garofolo Pediatric Institute - Research Activity

Research Activity

The research activity is articulated in 5 main areas:

• Materno-foetal medicine and neonatology
• Chronic diseases with onset in paediatric age
• Pediatric surgery and rehabilitation
• Epidemiology, prevention and quality of care
• Pediatric neuro sciences
  • Materno-foetal medicine and neonatology

This area covers research on: the immunology of pregnancy, with the goal of clarifying mechanisms of phenomena such as sterility and poliabortivity; assisted reproduction, looking at methodological standardization and new approaches to reduce maternal and foetal complications such as ovarian hyperstimulation or multiple twins; ovarian and spermatozoa cryopreservation in order to increase likelihood of pregnancy and to preserve couple fertility; genetic and apoptosis of human gametes to investigate in vitro micromanipulation risks; thromboembolic risk in pregnancy and labour; bacterial vaginosis and vertically-transmitted infectious diseases; prenatal diagnosis including US imaging, cytogenetics and molecular genetics; prevention of prematurity; evaluation of foetal growth during pregnancy and well-being during labour; neonatologists have developed and disseminated innovative approaches for the care of very low birth-weight babies; current research efforts focus on pharmacogenomics of steroids, analgesia in term and pre-term babies and pain assessment.

• • Chronic diseases with onset in paediatric age

The institute plays a leading role in the research on the molecular and immunological bases and identification of diagnostic markers of coeliac disease and of chronic inflammatory bowel disease. Research in this area also covers rare genetic diseases, particularly glycogenosis type II, storage diseases (Gaucher, Niemann Pick and other sphyngolipidoses) mitochondrial diseases and genetic immunodeficiencies such as IPEX syndrome, aiming at clarifying molecular mechanisms and develop innovative approaches to treatment such as enzyme replacement, use of nanotechnologies for genetic correction and stem cells transplantation. Research is also devoted to autoimmune diseases and paediatric rheumatology with focus on clinical evaluation of innovative therapies such as biological drugs; improved therapeutic protocols for leukemias and solid tumors are sought through multicentric trials and the study of pharmacogenetic determinants of outcome; the study of opportunistic infections and virology in paediatric cancer and transplanted patients.

• • Paediatric surgery and rehabilitation

This area covers the development and evaluation of mini-invasive and automated surgical approaches to abdominal, thoracic and urological surgery, and of micro-surgery approaches including prenatal interventions; the diagnosis and management of ostheoarticular and ocular complications of metabolic and other systemic diseases; the early markers of surgical complications; the evaluation of rehabilitation approaches of amblyopia; the management of dental problems in children with special needs; the genetics of hearing disorders and tissue engineering for surgical repair .

• • Epidemiology, prevention and quality of care

Research in this area is focused on the epidemiology of disease in pregnancy, infancy, childhood and adolescence, including infectious diseases and environmental exposure; on the development and implementation of approaches, (such as the Charter for Child Rights in Hospital), to assess and improve the quality of care particularly in the hospital setting; on integrated approaches for children with chronic diseases and children with special needs, including home care; on the development and evaluation of policies to promote breastfeeding; on the development and implementation of child health indicators and child health policies at international level; on bioethics of decision making in the perinatal period.

• • Paediatric neuro sciences

This area focuses on the genetic basis of mental retardation, the neurophysiology of epilepsy and neuropsychology, focusing on specific developmental disorders such as dyslexia, dysgraphia and coordination disorders and exploring new approaches for the rehabilitation of learning disabilities and language disorders. A recently established kinematic lab analyses upper limb movements and foetal movements, with the purpose of early diagnosis and possibly intervention. Finally, the physiopathology of neurological damage in mitochondrial encephalomyopathies is explored.