Mikayla Savastano’s Post

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Driving Precision Medicine, Drug Discovery, and Multi-Omics

Having a rare disease can mean what feels like an infinitely long journey, in and out of medical centers, dozens of tests, and seeing precious time wasted along both the diagnostic and treatment journey. So, in honor of #rarediseaseday I thought I'd post four exciting wins in the rare disease space from the last quarter of 2023 as a silver lining. 1. Dec 2023: The FDA approved Filsuvez by the Chiesi Group for junctional & dystrophic epidermolysis bullosa, a skin condition that causes severe blistering, tearing, and sores on the skin. In severe cases, life expectancy is severely reduced especially in countries that struggle with sanitary living conditions as the sores may become infected. 2. Oct 2023: A study on the impact of newborn screening on adrenal insufficiency in adrenoleukodystrophy (ALD) showed significant differences (P < .001) in diagnosis but also ACTH and peak cortisol levels after treatment in male populations leading to earlier intervention & better health outcomes. 3. Nov 2023: The FDA approved OGSIEVO, the first ever approved treatment for desmoid tumors. Studies showed an objective response rate of 41% and a hazard ratio of 0.31. 4. Nov 2023: A study characterized the histological changes in sinus tissue of patients with primary ciliary dyskinesia, a disease caused by genetic mutations that affect the cilia in the lungs, nose and ears, impairing their ability to remove pollutants. Patients with this disease have a reduced lifespan and often experience recurring pneumonia. This study demonstrated neurophils as the dominant immune cell which will support R&D for therapeutics to treat this condition. Find information on epidermolysis bullosa via American Academy of Dermatology, information on ALD via the The Stop ALD Foundation, information on desmoid tumors via Mayo Clinic or Memorial Sloan Kettering Cancer Center, and information on primary ciliary dyskinesia via the American Lung Association. #rarediseaseday2024 #rarediseases #genomicmedicine

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