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Genetic Disorders

Disease State Hub

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What's Your Diagnosis?
What's Your Diagnosis?
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
FDA Alert
FDA Alert
03/19/2024

Jessica Ganga

Jessica Ganga
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
pop quiz
pop quiz
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
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Interactive Features

pop quiz
pop quiz
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
poll
poll
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
POP QUIZ
POP QUIZ
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
Pop Quiz
medical testing
Pop Quiz
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
Pediatric Pearls
Pediatric Pearls
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

Video
Video
12/06/2023

James Matera, DO

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
Expert Q&A
Expert Q&A
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
genetics
genetics
01/27/2020
Mingyu Liang, MB, PhD, answers our questions about his research into the dark genome’s function in hypertension.
01/27/2020
Adrenal Disorders
Adrenal Disorders
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
Genetics
Genetics
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. ...
02/02/2018