The holistic approach of regenerative medicine will ensure more definitive, safe and long-term effects in Joubert Syndrome, says DR PRADEEP MAHAJAN
There are several diseases that are classified as rare or “orphan”. Such diseases affect fewer than 200,000 people globally. The majority of rare diseases are inherited, having remained silent in the previous generations. Genetic alterations/disturbances are the prime cause of such conditions. We will be highlighting on one such disease, Joubert Syndrome (JS), named after the pediatric neurologist Marie Joubert who first identified it in 1969.
JS is a brain malformation in which an area of the brain called cerebellar vermis is absent or underdeveloped. What this region does is that-it controls balance and coordination; therefore, affected individuals generally tend to have gait issues, inability to control voluntary movements, and decreased muscle tone. Other systemic issues have also been reported; however, the exact cause for this is not clearly known.
The condition manifests from infancy, and is first observed as weak muscle tone. Episodes of unusually fast or slow breathing may also be noticed. Gradually, children suffer from difficulty in coordinating movements, show abnormal eye movements, and delayed/impaired language and motor skills. Mild to severe intellectual disability may also occur. With age, affected individuals may also develop liver, kidney, and hormonal abnormalities. Since the condition appears to have features similar to other neurodevelopmental conditions, additional investigations are required to diagnose JS. A characteristic molar tooth sign is seen on brain MRI. Considering its rare presentation, only symptomatic and supportive treatment is available for patients. The majority of the treatments revolve around pharmacological management of systemic conditions, with rehabilitation and occupational therapy for language and motor skills-related issues. Nonetheless, the treatments provide temporary relief only from symptoms, making the patient dependent on family members for their lifetime in many cases.
Among the newer therapeutic advances, gene therapy/gene editing has been proposed for the management of JS. However, the treatment is still under investigation and may take years to be translated to the clinical set-up. On the other hand, regenerative medicine and cell-based therapy may be considered to individually target each pathology of JS. For example, the multidifferentiation potential of mesenchymal cells and neurotrophic effect can play a role in enhancing brain activity.
Likewise, cells and tissues of the kidney and other organs damaged by the disease process can be regenerated by cell-based therapy, owing to the self-renewing and paracrine properties of mesenchymal cells. Of course, rehabilitative and allied treatments such as physiotherapy, occupational therapy, oxygen/stimulation-based therapies will be required for superior outcomes. However, this holistic approach of regenerative medicine and allied therapies will ensure more definitive, safe and long-term effects compared to conventional pharmacological treatments. Nonetheless, considering the rare presentation of JS, it is also important to counsel the family and ensure long-term follow up of patients to initiate prompt treatment.
The writer is Regenerative Medicine Researcher