On the occasion of Osteogenesis Imperfecta Awareness Day, the Neuberg Centre for Genomic Medicine (NCGM) collaborated with SAACHI Children Hospital in Surat to host a medical camp.
Osteogenesis Imperfecta (Ol), also known as brittle bone disease, is a genetic disorder that causes recurrent bone fractures in children, with an estimated global incidence of 10,000 to 20,000 people.
Spearheaded by Dr. Sheetal Sharda, Clinical Geneticist and Director of Genomics Division, Neuberg Centre for Genomic Medicine (NCGM), the camp was aimed at educating parents about importance of genetic testing and providing medical & genetic counselling for families with Osteogenesis Imperfecta.
A multidisciplinary team of experts were available to guide parents about the management and day-to-day care of their children. The camp also offered laboratory and genetic testing at affordable rates which would benefit the families to get an early genetic diagnosis.
Speaking about the camp Dr. Sheetal Sharda, Clinical Geneticist and Director of Genomics Division, Neuberg Centre for Genomic Medicine (NCGM) said, “I would like to thank the team at SAACHI Children Hospital for joining hands to organize this camp Creating awareness about Osteogenesis Imperfecta is very important for laymen, so they can reach out to the experts for an early diagnosis, treatment and prevention options. Parents must keep a watch on their children, as the most commonly seen symptom of this condition is recurrent fractures which at times get ignored and are reported when a child has the 3rd or 4th fracture”.
“Being a genetic condition, there is a risk of passing on the same condition to the next child. So we may have families with two children with Ol. Establishing a genetic diagnosis in patients helps understand the inheritance in the family which may help understand the risk of recurrence. Preventing the birth of a child with severe Ol is possible by genetic diagnosis during pregnancy”, she further explained.