Nov 122021

On November 11–12, Almazov Centre held its 5th Interdisciplinary Conference “Orphan Diseases: Diagnosis. Treatment. Rehabilitation”, International seminar “Modern Methods of Obtaining and Functional Assessment of iPSC”, Mini symposium “Single-Cell Profiling in Oncology.

The conference was held online and brought together more than 300 pediatricians, neonatologists, cardiologists, rheumatologists and neurologists from Almazov Centre and many other institutions.

The scientific program centered around a multidisciplinary approach to rare diseases in children. The main focus was on the latest developments, innovations, current trends and prospects in the diagnosis, treatment and prevention of rare diseases.

Speakers presented new possibilities for laboratory testing of orphan diseases. Also, much attention was devoted to neuromuscular diseases. The participants discussed and assessed the prospects for genetic therapy of inherited lipid metabolism disorders and neuromuscular diseases.

The specialists considered the issues of rehabilitation for children with rare diseases.

Such events contribute to improving the professional knowledge, gaining new ideas for research and introducing new approaches to the prevention, diagnosis, treatment and rehabilitation of rare diseases in children. This conference has great social significance in helping families of children with rare diseases. Every year, after the scientific programme is over, there is a training session for parents with a child with a rare disease. This year's meeting was dedicated to the treatment and rehabilitation of children with cardiovascular diseases and patients diagnosed with central congenital hypoventilation syndrome (CCHS, Ondine's curse syndrome). The participants of the meeting considered substantive and organizational aspects of medical care and psychological issues of rare disease parenting.