Genetic Disorders
Resource Center
Featured
06/10/2024
Does every patient with the genetic mutation for acute hepatic porphyria experience symptoms? Take this pop quiz to find out!
06/10/2024
05/24/2024
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...
05/24/2024
05/24/2024
Oxalate nephropathy is a commonly underrecognized cause of chronic kidney disease and end-stage kidney disease with multiple etiologies, including primary hyperoxaluria, enteric hyperoxaluria, or ingestion...
05/24/2024
Interactive Features
06/10/2024
Does every patient with the genetic mutation for acute hepatic porphyria experience symptoms? Take this pop quiz to find out!
06/10/2024
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
Clinical Insights
05/24/2024
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...
05/24/2024
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
