Research Project Description:

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. The project is conducted in Cyprus in collaboration with the University of Nicosia Medical School. The project will involve the recruitment of 12,000 boys and girls, between the ages of 4 and less than 21 being seen at all clinical sites. Participants and their parents provide saliva samples and information related to the child’s and the parents’ medical histories. Genomic analyses of the samples that are provided by the patients and their families are carried out by the SHC Genomics Institute Laboratory. The project has received IRB approval in the USA and bioethical approval in Cyprus by the Cyprus National Bioethics Committee.

Principal Investigator(s) and Coordinating Institution(s):

  • Dr Kamran Shazand (Principal Investigator), Shriners Hospital of Children, USA
  • Dr Marc Lalande (Sub-Investigator), Shriners Hospital of Children, USA

Researchers at University of Nicosia Medical School:

  • Dr Constantina Constantinou (Cyprus Coordinator – Researcher)
  • Prof Peter Karayiannis
  • Dr Christiana Charalambous

Research Project Acronym:

  • SHC Gemomics and Precision Medicine Project

Research Project Status: Ongoing

Start and End Dates: 2019-ongoing