Dr. Sheela Nampoothiri, Clinical Professor and Head of the Department of Paediatric Genetics, Amrita Institute of Medical Sciences (AIMS) received the Dr. Eapen Samuel Memorial Award 2014 of the Indian Medical Association (IMA) for the best research paper published in the state of Kerala.
The award carrying a scroll and cash prize was presented to her during the IMA AMS (Academy of Medical Specialties) National South Zone Conference held at Kozhikode on October 08, 2014. Her research article titled “Eight Years Experience from a Skeletal Dysplasia Referral Center in a Tertiary Hospital in Southern India : A Model for the Diagnosis and Treatment of Rare Diseases in a Developing Country” has been published in the American Journal of Medical Genetics.
The study analyses 514 cases of skeletal dysplasias, a genetic condition in which a change or defect in a specific gene cause problems in bone and cartilage growth, of the last 8 years with 109 cases of proven mutation from Amrita Institute of Medical Sciences and Research Centre. This publication in the American Journal of Medical Genetics, which carries a high impact factor, highlights the quality of the study involving centres from India, USA, Switzerland, Belgium and Netherlands.
October 8, 2014