A Disease is considered rare if it affects no more than five in 10,000 people. Many rare diseases are genetic and occur at birth and in childhood. With the progressive development of gene therapy, attempts are being made to correct the malfunctioning of the defective gene by “correcting” DNA. In this process, early diagnosis is critical to ensure a chance for successful treatment. This is because the earlier a defective body function can be corrected, the better the chances that further development will progress during childhood.

PTC Therapeutics is a pioneer in the field of gene therapy and is developing compounds against the rare diseases Duchenne as well as AADCd. Great attention was paid to the “AADC Deficiency Regional Masterclass” in Dubai in early 2023. The 2-day medical science conference provided an opportunity for pediatric specialists to exchange ideas on the diagnosis and treatment of this rare disease. Life Science Communication supported PTC in the coordination of the speakers as well as in the preparation and communication of the scientific presentations.