Tuesday, 2 June 2020
The University of Nicosia Medical School is proud to announce its participation in a research project conducted by the Shriners Hospitals for Children (SHC), a network of 22 non-profit medical facilities across North America and many outreach clinics. The ‘SHC Genomics and Precision Medicine Project’ (GPMP) is a critical step toward a genome-assisted practice of medicine that not only provides insight into the genetic aspects of paediatric diseases, but also significantly contributes to precision or personalized medicine.
Since 1981, orthopaedic specialists from the Springfield, Massachusetts Shriners Hospitals for Children (SHC) have visited Cyprus annually as part of an established humanitarian partnership with the George and Thelma Paraskevaides Foundation. About 12,000 children from all communities of Cyprus have been examined for a range of orthopaedic conditions since the annual visits began. Difficult cases that cannot be treated in Cyprus are eligible for treatment in the United States with sponsorship provided by the George and Thelma Paraskevaides Foundation. So far more than 3,500 children have been operated for free.
The primary goal of this genomics project is to enhance the understanding of the genetic bases of the rare paediatric conditions treated at SHC, which are categorized into five areas of specialty care including cleft lip and/or palate, orthopaedics, spinal cord injury, metabolic bone disease and burn care. The goal of this study is to perform a molecular analysis of the paediatric disorders identified in SHC patients, aiming to: 1) discern the genetic bases of these conditions in the patient population; 2) investigate other clinically relevant mutations and genetic modifiers in this population group, whether inherited (germline) or de novo; and 3) develop personalized diagnosis, therapies and ultimately improved patient care. This study will help scientists and clinical researchers to learn more about how genes contribute to health and disease and facilitate new ways to prevent and treat various paediatric conditions.
The current project will involve the participation of patients presented at SHC locations in the USA and the SHC Outreach Clinic in Cyprus. Participants and their parents will provide saliva samples and information related to the child’s and the parents’ medical histories. The ‘SHC Genomics and Precision Medicine Project’ will involve the recruitment of 5,000 boys and girls, between the ages of 4 and less than 21 being seen at participating SHC sites in the USA, Canada and Mexico. In addition, it is expected that approximately 100 patients and their parents will be enrolled in the study at the annual SHC Outreach Clinic in Cyprus. The study will have a duration of 10 years with an expected total enrolment of 1,000 Cypriot patients and their parents. The enrolment of patients in Cyprus is expected to start in 2021. Genomic analyses of the samples that will be provided by the patients and their families will be carried out by the SHC Genomics Institute Laboratory.
The researchers involved in the project are: SHC (USA): Dr Kamran Shazand (Principal Investigator), Dr Marc Lalande (Sub-Investigator), Dr Gary Gottesman (Medical Director), Mr Vinieth Bijanki (Protocol Coordinator), Mr Coleman Hilton (Protocol Coordinator), Ms Brianna Liquori (Protocol Coordinator); University of Nicosia Medical School (Cyprus): Dr Constantina Constantinou Cyprus Coordinator – Researcher), Prof Peter Karayiannis (Researcher) and Dr Christiana Charalambous (Researcher).
The project has received IRB approval in the USA and bioethical approval in Cyprus by the Cyprus National Bioethics Committee.