Jaipur, Sep 22 (PTI) Focus should be given to screening newborns for inborn error of metabolism (IEM) and the training of doctors to recognise and diagnose these diseases, medical experts said here on Sunday.
“There is treatment available for rare diseases and IEMs and people should come to the experts instead of leaving the fate of children to God,” Indian Society for Inborn Errors of Metabolism (ISIEM) Secretary Dr Sunita Bijarnia said.
In-depth discussions on introduction to genetic metabolic disorders, newborn screening and basics of inborn errors of metabolism were discussed at a three-day conference here.
Bijarnia said that experts at the conference, held to create awareness among the doctor fraternity, batted for promoting newborn screening as an important public health measure.
She said that the Society is focusing on training doctors to recognise and diagnose these diseases and building infrastructure for the same.
Lt. Col. Dr Aradhana Dwivedi, a Medical Geneticist with Army Hospital, said that although genetic/rare diseases are said to be 1 in 1000 children, in India the number is high due to the large population and high birth rate.
She said that there are three categories of IEMs including small molecule, complex molecule metabolic disorders and enzyme deficiency disorders.
Conference organising secretary Dr Priyanshu Mathur said that treatments for some of the rare and IEMs diseases are available at less expense and can improve the quality of life of children.
“Work should be done on the repurposing of drugs, which means investigation of drugs in existence for new therapeutic purposes. Research can be done on the repurposing of drugs through pathway identification. There is research going on repurposing the ambroxol molecule (used to treat cough) for treating Gaucher disease,” he said.
Drug repurposing is the technique of using an existing drug for a new treatment or medical condition for which it was not indicated before.
The experts in rare diseases and IEMs had brainstorming sessions on recognising, diagnosing and treating them and shared the latest updates during the conference that concluded on Sunday. PTI SDA RT RT
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