As we keep our eyes peeled over COVID-19 medical developments, let us remember to celebrate medical achievements unrelated to COVID-19. A team of clinicians and researchers, from KK Women’s and Children’s Hospital and A*STAR Institute of Medical Biology, have identified the first known case of a previously undiagnosed genetic syndrome. Jamuar Syndrome is named after Dr Saumya Jamuar, the genetic consultant that made discovery of the syndrome possible through recruiting the Menezes family for the BRIDGES (Bringing Research Innovations for the Diagnosis of Genetic diseases in Singapore) programme.
The First Two Cases
Atira and Seana Menezes are sisters who displayed similar symptoms including developmental delay and epilepsy. They were tested for previously known conditions, which returned negative results. The Menezes family’s quest for a diagnosis eventually led them to Jamuar Syndrome – a genetic condition caused by the mutation of the UGDH gene. Since the discovery of this condition, 36 other children worldwide with previously undiagnosed genetic conditions have been diagnosed with Jamuar Syndrome.
As the condition was just discovered, more research has to be conducted before any specific treatment for the Jamuar Syndrome would be available. Meanwhile, the children will continue to receive treatment for their Jamuar Syndrome-induced symptoms. However, the lack of specific treatment for the condition does not diminish the significance of this discovery.
According to Dr Jamuar, only about a quarter of diseases in the world are diagnosed. Identification of a new condition allows for research into the treatment of the underlying condition to begin. A diagnosis also allows parents of affected children to understand their children’s condition, so that they can focus on planning for their children’s future.