Scientific and practical conference on diagnostics of orphan diseases takes place in Buynaksk

Buynaksk Central Hospital hosted the scientific-practical conference initiated by the Association of Medical Geneticists "Orphan Troop". The event participants discussed issues related to the diagnostics of orphan diseases and improvement of accessibility of medical care for patients with rare diseases of neuromuscular apparatus.

Opening the event, Ruslan Gafurov, the Chief Physician of the BCH, expressed gratitude to the organizers of the conference and introduced the speakers. As to Gafurov, the conference is held for exchange of experience among profile specialists: geneticists, neurologists, neonatologists, pediatricians.

The conference program consisted of several parts, in which various aspects of medical care were considered. The main attention was paid to the issues related to the prevalence and organization of medical care for patients with Duchenne muscular dystrophy and aromatic amino acid decarboxylase deficiency (AADC). Timely diagnosis and referral for molecular diagnostic testing were also discussed.

In the second part of the conference the clinical data, diagnostics and methods of treatment of "Duchenne myodystrophy" and "aromatic amino acid decarboxylase deficiency" (AADC) were discussed in detail using examples of patients with confirmed diagnoses.

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