Genetic Disorders
Resource Center
Featured
05/08/2024
Have you treated patients with acute hepatic porphyria in your practice? Let us know your experience with this rare genetic disorder by taking the poll!
05/08/2024
05/07/2024
Researchers examined the epidemiology of hydroxymethylbilane synthase (HMBS) gene defects and activity levels among patients with acute intermittent porphyria to better understand the role of HMBS activity...
05/07/2024
04/30/2024
Do you know which patient population is most likely to have an acute hepatic porphyrias attack? Take the quiz and find out!
04/30/2024
Interactive Features
05/08/2024
Have you treated patients with acute hepatic porphyria in your practice? Let us know your experience with this rare genetic disorder by taking the poll!
05/08/2024
04/30/2024
Do you know which patient population is most likely to have an acute hepatic porphyrias attack? Take the quiz and find out!
04/30/2024
02/16/2024
There are four types of acute hepatic porphyria, but one type is significantly more common than the others. Are you familiar with the most common type of acute hepatic porphyria? Take this pop quiz to test...
02/16/2024
12/26/2023
Epilepsy is often genetic and can be passed on to children. Do you believe genetic testing has a role in epilepsy management? Take our poll to voice your opinion!
12/26/2023
12/14/2023
As a genetic disorder, Fabry disease is caused by variants in a specific gene. Do you know which gene is affected?
12/14/2023
Clinical Insights
12/06/2023
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
01/27/2020
Mingyu Liang, MB, PhD, answers our questions about his research into the dark genome’s function in hypertension.
01/27/2020
01/22/2020
Dr Speiser answers our questions about the Endocrine Society’s 2018 clinical practice guideline for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
01/22/2020
02/02/2018
Marylyn Ritchie, PhD, discusses how genome sequencing can help patients learn about their family history, their risk levels for certain diseases, and their likely responses to a variety of drug treatments.
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02/02/2018
