Rare Diseases Archives - Insights https://news.mayocliniclabs.com/category/biopharma/rare-diseases/ Get the latest news and education from Mayo Clinic Laboratories Thu, 26 Oct 2023 18:44:56 +0000 en-US hourly 1 https://wordpress.org/?v=6.7.2 Unique collaboration advances discoveries for rare disease https://news.mayocliniclabs.com/2023/10/24/unique-collaboration-advances-discoveries-for-rare-disease/ https://news.mayocliniclabs.com/2023/10/24/unique-collaboration-advances-discoveries-for-rare-disease/#respond Tue, 24 Oct 2023 21:00:00 +0000 https://news.mayocliniclabs.com/?p=104990 Unique collaboration advances discoveries for rare diseaseThe nonprofit patient advocacy group called The MOG Project supports patients with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), which is a rare and debilitating central nervous system demyelinating disorder. A team of Mayo Clinic neurologists, neuro-ophthalmologists, and the Autoimmune Neurology Laboratory at Mayo Clinic share a unique relationship with The MOG Project as they harness the power of patients’ experiences with MOGAD and their biospecimen data to advance the science behind this disease.

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]]> https://news.mayocliniclabs.com/2023/10/24/unique-collaboration-advances-discoveries-for-rare-disease/feed/ 0 Database of unsolved patient sequencing results yields new answers https://news.mayocliniclabs.com/2023/10/10/database-of-unsolved-patient-sequencing-results-yields-new-answers/ https://news.mayocliniclabs.com/2023/10/10/database-of-unsolved-patient-sequencing-results-yields-new-answers/#respond Tue, 10 Oct 2023 18:38:27 +0000 https://news.mayocliniclabs.com/?p=104993 Database of unsolved patient sequencing results yields new answersMayo Clinic launched an automated system called RENEW — reanalysis of negative whole-exome/genome data — in 2022 that tracks newly published discoveries of disease-causing genetic variants. Every three months, the system automatically uploads these new scientific findings from around the world, which are then compared to the Mayo Clinic Center for Individualized Medicine’s database of unsolved patient sequencing results. This comparison helps to identify potentially significant developments that could lead to a new diagnosis for a patient with a rare genetic disorder.

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