Genetic Disorders
Resource Center
Featured
03/26/2025
Miranda Manier, BA
A new study sheds light on olezarsen's potential to address a critical problem in a rare genetic disorder. Can you pinpoint the mechanism it targets to reduce plasma triglyceride levels? Take our quiz to...
03/26/2025
03/20/2025
Miranda Manier, BA
A recent study compared clinical and biochemical characteristics of patients with severe hypertriglyceridemia, distinguishing familial chylomicronemia syndrome from multifactorial chylomicronemia syndrome.
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03/20/2025
02/19/2025
Anthony Calabro, MA
Those living with familial chylomicronemia syndrome, a rare genetic disorder, have a higher risk of developing what condition? Take the quiz to find out!
02/19/2025
Interactive Features
03/26/2025
Miranda Manier, BA
A new study sheds light on olezarsen's potential to address a critical problem in a rare genetic disorder. Can you pinpoint the mechanism it targets to reduce plasma triglyceride levels? Take our quiz to...
03/26/2025
02/19/2025
Anthony Calabro, MA
Those living with familial chylomicronemia syndrome, a rare genetic disorder, have a higher risk of developing what condition? Take the quiz to find out!
02/19/2025
12/27/2024
Miranda Manier, BA
A recent study on gene therapy for Danon disease revealed findings related to its impact on the condition’s hallmark cardiac pathology. What finding suggested the therapy could effectively target the...
12/27/2024
12/11/2024
A recent meta-analysis examines the incidence of hepatocellular carcinoma in patients with acute hepatic porphyria, identifying higher risks in certain subgroups. Test your knowledge of these findings with...
12/11/2024
11/26/2024
Miranda Manier, BA
When evaluating a patient for possible Danon disease, several other diagnoses should be considered. Do you think you know the similar diagnoses to Danon disease? Take the quiz to test your knowledge!
11/26/2024
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
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
