October 11, 2011
School of Medicine, Kochi
Dr. Sheela Nampoothiri, known worldwide for her outstanding work in the field of rare genetic and metabolic disorders recently received yet another accolade for her research.
She described a new syndrome which was hitherto undiagnosed. The details were published in the American Journal of Medical Genetics as a paper titled Macrostomia, Thin Upper Vermilion Border, Long Philtrum, Broad Halluces and Intellectual Disability in Two Sibs.
The clinical study examined two siblings, who shared the same traits of marked global developmental delay, hearing loss, hypotonia (lower than normal muscle tone), unusual facial structure and broad halluces (big toes).
This constellation of symptoms and signs will be hereafter referred to as the Nampoothiri Syndrome in the medical community.
Doctors and other colleagues at the Amrita School of Medicine lavished extensive praise on Dr. Sheela for her remarkable work.
“It is a big achievement to describe a new syndrome,” commented Dr. Anand Kumar, Head of Department of Neuromedicine.
“Dr. Sheela has had a large number of very high impact publications in international journals over a short period of time,” added Dr. Prem Nair, Medical Director. “This genetic defect was first described by her and it now carries her name.”
Dr. Sheela’s research team included Christine Fauth and Birgit Krabichler, Innsbruck Medical University, Austria; Tania Attie-Bitach, Universite Paris Descartes, France; and Raoul C Hennekam, University of Amsterdam, Netherlands.
Dr. Shwetha Kuthiroly of Amrita was also part of the team.
“The cause of the combination of signs and symptoms in the present sibs is uncertain,” Dr. Sheela explained. “A chromosomal imbalance was investigated using classical cytogenetic studies and molecular karyotyping with a SNP array but can never be excluded completely.”
“The lack of findings in both parents and unaffected sisters points to an autosomal recessive pattern of inheritance despite the fact that the parents do not share common ancestry,” she further elaborated.
“We hope that the phenotype in the present sibs will be recognized in other families resolving this question,” she finally noted.
Dr. Sheela Nampoothiri, Professor and Head of Department of Pediatric Genetics at the Amrita School of Medicine received training from University of Freiburg, Germany for evaluation of children with skeletal dysplasias – her key area of research in genetics. In addition, she attended training programs for the evaluation of lysosomal storage disorders in Hong Kong, Malaysia and Taiwan and that for clinical dysmorphology in Rome, Italy.
A recipient of a Commonwealth scholarship, Dr. Sheela has also trained in Birmingham and Nottingham in the UK. She completed her MSc degree in Medical Genetics from University of Glasgow, UK after completing her basic training in Pediatrics from Kerala, India.
In March 2010, Dr. Sheela initiated a Down Syndrome support group at Amrita. We congratulate her on her latest achievement.
Treating Rare Genetic and Metabolic Disorders
Prathyasa – The Downs Syndrome Support Group