ASTON HEALTH AT THE NATIONAL MULTIMEDIA CONFERENCE ‘RARE CASE’

Publication date: 20 december 2019

On December 11, 2019 the First National Multimedia Conference ‘Rare Case’ was held in Moscow. Its core theme was diagnosis and treatment of orphan diseases. The organizers included the Union of Pediatricians of Russia, the Association of Medical Genetics of Russia, and the Society for Development of Medicine and Healthcare. The conference was moderated by Leila Namazova-Baranova, the President of the Union of Pediatricians and Sergey Kutsev, the President of the Association of Medical Genetics.

Vyacheslav Borisov, Ph.D., Senior Consultant of Laboratory Diagnostics at Aston Health presented a report at the panel discussion titled ‘Current approaches to diagnosis of orphan diseases’.

The conference participants also discussed neonatal screening, rare disease alert, differential diagnosis and reviewed the clinical cases of mucopolysaccharidosis, hypophosphatasia, phenylketonuria, DLLC and other orphan conditions.