Genetic Disorders
Disease State Hub
Featured
03/28/2024
Cole R. Fiedler, BS1 • Lana Soylu, MD2
Cole R. Fiedler, BS1 • Lana Soylu, MD2
A 13-year-old boy presented to his pediatrician’s office with a 1-day history of left hip pain. The patient reported that he felt a sharp pain in his anterior left hip while running, causing him to limp. He...
03/28/2024
03/19/2024
The FDA approved two gene therapies, the first of their kind, to treat patients aged 12 years and older with sickle cell disease.
03/19/2024
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
Interactive Features
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
10/15/2023
Do you know which conditions are associated with autoimmune polyendocrine syndrome (APS) type 2 and which tests are useful in the diagnosis and management of APS type 2? Test your knowledge with this pop...
10/15/2023
05/21/2023
A 2-year-old boy presents with his parents to a pediatric clinic. He had previously been diagnosed with hypospadias. His parents explain that he has been showing symptoms of troubled breathing, excessive...
05/21/2023
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