Rare Genetic Diseases
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Featured
09/25/2026
Anthony Calabro, MA
Pediatric safety and pharmacokinetic findings supported expanding leniolisib to children aged 4 to 11 years who weigh at least 27 kg, establishing the first FDA-approved treatment for activated...
09/25/2026
09/16/2026
Anthony Calabro, MA
Clinical and pharmacokinetic evidence supported approval of zilganersen across pediatric and adult age groups, providing the first therapy designed to reduce production of the abnormal GFAP protein...
09/16/2026
07/21/2026
Anthony Calabro, MA
The FDA expanded approval of exagamglogene autotemcel (Casgevy) for patients aged 2 years and older with sickle cell disease and recurrent vaso-occlusive crises or transfusion-dependent β-thalassemia.
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07/21/2026
Interactive Features
11/17/2025
Jessica Ganga
Nephropathic cystinosis is a rare disease that may lead to the development of other diseases and complications in patients. Do you know some of the complications that can develop in patients due to...
11/17/2025
09/17/2025
Miranda Manier, BA
How well do you understand RNA-based and gene-editing treatments targeting apolipoprotein C-III and angiopoietin-like protein 3 in familial chylomicronemia syndrome? Test your knowledge of this evolving...
09/17/2025
09/09/2025
Anthony Calabro, MA
Nephropathic cystinosis is a rare, inherited lysosomal storage disorder with complex pathophysiology and multisystem involvement. Its early signs can be subtle, and delayed recognition has serious...
09/09/2025
04/16/2025
Miranda Manier, BA
New FDA-approved and investigational therapies target apoC-III to reduce triglycerides in familial chylomicronemia syndrome. Can you identify how these agents work?
04/16/2025
04/11/2025
Miranda Manier, BA
A 2025 review in the Journal of Clinical Lipidology proposes a North American diagnostic score to help identify familial chylomicronemia syndrome. Can you recognize its key features?
04/11/2025
Clinical Insights
12/20/2024
Barry H Greenberg, MD
In part two of this two-part series, Dr Greenberg delves into unexpected findings from a new study on gene therapy for Danon disease. He emphasizes the importance of early intervention, rigorous...
12/20/2024
12/17/2024
Barry H Greenberg, MD
In part one of this two-part series, Barry Greenberg, MD, discusses the challenges and emerging insights in understanding and treating Danon disease. Dr Greenberg also shares findings from a new study on...
12/17/2024
11/18/2024
Cole R. Fielder, BS
In this Case Report Insights, Cole Fiedler, BS, speaks about his team’s study, "An Unexpected Outcome in an Adolescent With Juvenile Ankylosing Spondylitis. Cole Fiedler discusses what led to the diagnosis...
11/18/2024
12/06/2023
James Matera, DO
In this video, James Matera, DO, discusses a case presentation of a 12-year-old patient with nephropathic cystinosis, including the diagnosis, management, follow-up, and ways to coordinate with the care...
12/06/2023
05/03/2022
New research investigated the nervous system cell types in which putative migraine-associated genes are expressed. Lead author William Renthal, MD, PhD, answers our questions about this research.
05/03/2022
