Earlier last month, 20th-23rd November 2008, Dr. Sheela Nampoothiri, HoD, Department of Pediatric Genetics at the School of Medicine, was invited to present a paper titled, “Lysosomal Disorders in Kerala – Experiences from AIMS,” at the Asia Pacific Lysosomal Storage Disorder Conference held at New Zealand. The paper won wide appreciation on account of its reporting on the largest series of lysosomal storage disorders from India.
Lysosomes are parts of cells that perform important functions. The cell, which is also known as the building block of life, is the smallest unit in any living organism. Our human body is estimated to have nearly 100 trillion cells, the smooth functioning of which keeps us healthy. If the lysosomes in a cell malfunction, then one may be afflicted by LSD, also known as Lysosomal Storage Disease. The Asia Pacific Lysosomal Storage Disorder was the first conference of its kind organized in New Zealand.
“Children with motor and developmental delays and regression were referred to our department and we were able to confirm the diagnosis in 39 cases,” remarked Dr. Sheela. “Prenatal diagnosis was also provided in 7 cases. The large numbers of patients that seek treatment here at AIMS made the study possible. At the conference, we received appreciation for the fact that our study was based on a large amount of clinical data. The conference was a good opportunity to learn about similar cases from around the world.”
December 4, 2008
School of Medicine, Kochi