Genetic Disorders
Resource Center
Featured
12/20/2024
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
12/19/2024
Miranda Manier, BA
A specialized inpatient sickle cell disease (SCD) consult service led to improved pain management, shorter hospital stays and expanded use of individualized pain plans for patients with SCD.
12/19/2024
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
Interactive Features
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
11/13/2024
Danon disease is a rare genetic disorder with three distinct characteristics that affect boys more severely than girls. Can you correctly identify the three main features of Danon disease? Take the quiz to...
11/13/2024
09/18/2024
Acute hepatic porphyria attacks are associated with several painful symptoms. Think you know the most common one? Take the quiz to find out!
09/18/2024
08/09/2024
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...
08/09/2024
Clinical Insights
12/20/2024
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
