“The department has been treating patients with rare genetic disorders . These include dysmorphology, inborn metabolism defects, neurogenetic disorders, osteogenesis imperfecta, and skeletal dysplasia. We also started clinics for adults suffering from genetic diseases, open every Friday,” Dr Mayank Nilay, assistant professor of medical genetics at PGICH, said.
The department has made some headway in the case of the child with Hutchinson Gilford Progeria, which also causes other skin and heart-related complications. The doctors at the institute said that the child’s parents are from Noida and had been running from one doctor to another without any diagnosis as most general paediatricians could not decide the diagnosis or the course of treatment.
“The family was also not getting any early appointments at AIIMS in Delhi. Then they heard about the newly-created department of medical genetics at PGICH, Noida. During diagnosis, we confirmed that the child is suffering from defects in the LMNA gene, associated with Hutchinson Gilford Progeria,” said Dr Mayank.
The doctors contacted Dr Leslie Gordon in the USA, known for her research on the disease, and with the active involvement of the parents, sent blood samples to the USA free of cost and got a genetic test done. The doctors have now applied for medicines, Lonafarnib , to treat the child for free. They said the oral drug leads to the improved health of patients and increases their life span for some years.