Jaipur, September 22, 2024
The Indian Society for Inborn Errors of Metabolism (ISIEM) was privileged to inculcate the pledge for promotion recommendation of newborn screening as an important public health measure- as proposed by the expert group of ISIEM. With this to carry it forward a Jaipur ISIEM declaration was made. This is further to support the commitment for supporting the promise to move to make a plea to include universal newborn screening in developing countries . The stakeholders included the members of representatives from 5 states and all the members of the organizing committee of the ISIEM National conference 2024 held at Jaipur from 19-22 September
ISIEM conference organising secretary Dr Priyanshu Mathur said the conference is organised once in two years and the next conference will be in New Delhi, he added.
He said that the Rajasthan government has announced setting up a Centre of Excellence for Medical Genetics at JK Lone hospital in the budget.
Dr Mathur said that treatment to some of the rare and IEMs diseases are available at less expense and can improve the quality of life of children. The work should be done on 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.
Conference treasurer Dr Lokesh Kumar Agarwal said the experts in rare diseases and IEMs had brainstorming sessions on recognising, diagnosing and treating them and shared the latest updates in this conference. This conference would have made the doctor fraternity aware about these diseases.
ISIEM secretary Dr Sunita Bijarnia said that the message to people is that 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.
