Nov 162018
 


On November 16, the Almazov Centre hosted the 2nd Interdisciplinary Conference with international participation Orphan Diseases: Diagnosis, Treatment and Rehabilitation.

The first conference covering the topical issues of treatment and rehabilitation of children with rare diseases, the features of diagnosis and clinical manifestations was held in 2017. The topics of this year’s conference attracted the interest of dedicated experts and representatives of patient organizations.

Among the organizers of the Conference are Health Committee of St. Petersburg Government, Almazov National Medical Research Centre, St. Petersburg Division of the Union of Pediatricians of Russia, First Pavlov State Medical University, Mechnikov State Medical University.

The participants included Alexandra Konradi, Deputy Director General for Research; Ekaterina Zakharova, head of Laboratory for Hereditary Metabolic Diseases; Professor Anna Tylki-Szymańska from Poland, Elena Khvostikova, Director of Centre for Patients’ Care «Genom»; Tatyana Pervunina, Director of Perinatology and Pediatrics Institute; Eduard Komlichenko, Deputy Director for Research and Clinic of the Institute; representatives of the St. Petersburg Health Committee and the North-West Division of the Russian Union of Pediatricians; specialists from Moscow and Saint Petersburg.

The scientific programme included lectures, plenary talks, symposia and interactive discussions devoted to orphan diseases in pediatrics, perinatology and obstetrics. The specialists discussed such issues as lysosomal acid lipase deficiency (LAL-D), Gaucher disease, Hunter syndrome, Pompe disease, Fabry disease, mucopolisacaridosis, hypophosphatasia, atypical hemolytic uremic syndrome, etc.

The major topics covered by the Conference are:

  • Current understanding of orphan diseases
  • Early diagnosis of orphan diseases in children
  • Genetic aspects of working with families of patients with rare diseases
  • Possibilities of habilitation and rehabilitation in orphan diseases
  • Telemedicine centres for consultation, diagnosis and treatment of regional patients with rare diseases
  • Orphan diseases in perinatology and obstetrics
  • Successive and multidisciplinary management of patients with rare diseases
  • Protecting the rights of children with rare diseases
  • Need for an expert centre for diagnosis, choice of therapy, treatment and management of children with orphan diseases
  • Role of patient organizations in caring for orphan patients
  • Clinical cases: difficulty of diagnostic decision-making

The Conference featured the round table “Problem of Organizing Medical Care for Children with Orphan Diseases. Creating the Centres for Diagnosis, Treatment and Rehabilitation” where the specialists discussed the issues of economic, social and legal support for patients and their routing.