Name:Huda Abdullah Aljehafy
Name:Reham Mohammad bokhari
Name:Afnan Tariq Qurban
Name:Rawan Ali Algarni
Name:Arwa Dhife Allah Alghraibi
Name:Sharefah Abdullah Alqarni
Name:Fatimah Hamzah Najjar
Name:Mazin Mohammed Azrai
Name:Etedal abdulwahab Abdurabuh
Name:Haneen Mohammed Fallatah
Name:Basil Tariq Abu alnour
Name:Kenanah Maher Alawi
“Enhancing the Management of Rare Diseases Through Specialist Collaboration and Advanced Therapeutics”
Abstract:
The management of rare diseases poses significant challenges due to their complex and heterogeneous nature, the limited availability of specialized care, and the lack of effective therapeutic options. However, recent advancements in diagnostic tools, specialist collaboration, and novel therapeutic approaches, such as gene therapy, biologics, enzyme replacement therapies (ERT), and personalized medicine, have greatly improved the prognosis for many rare disease patients. Specialist collaboration across multidisciplinary teams and international networks has been crucial in providing comprehensive care and facilitating access to innovative treatments. Despite these advancements, challenges persist, including diagnostic delays, high treatment costs, regulatory barriers, and limited research funding, which hinder equitable access to care. Overcoming these barriers requires coordinated efforts from healthcare providers, researchers, policymakers, and patient advocacy groups to improve access to timely, effective, and affordable care. This research underscores the importance of collaboration, investment in rare disease research, and the need for policy reforms to create an inclusive and sustainable framework for managing rare diseases.
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