StudyRare 🧬 CNS tumor syndromes: NF-2: bilateral CP angle tumors (vestibular schwannomas), meningiomas TSC1: SEGAs (intraventricular tumors), subependymal nodules, cortical tubers RET (MEN2A): N/A, unlike MEN1 VHL: Hemangioblastomas of cerebellum + spinal cord, endolymphatic (ear) tumor

To remember the 3 main genetic causes of familial hypercholesterolemia, remember that "PoLaR Bears" 🐻‍❄️ are full of blubber (cholesterol): PCSK9, LDLR, & APOB #GeneChat

Hoping med Twitter can provide some insight here. Is there a particular specialty you would refer someone to for lipedema? I am unfamiliar with the condition but trying to help a friend.

LCHAD deficiency is a fatty acid oxidation disorder that, when present in the fetus, can cause disease in the mother🤰. To remember this, think "Lady's Child Has A Disease" (LCHAD) that in Late pregnancy Causes HELLP, AFLP, and Death (potentially). #GeneChat

2024 season loading 🥎📶 #NCAASoftball

Researchers at Boston University are undertaking a study to understand better what types of barriers prevent patients with #hypermobileEhlersDanossyndrome (hEDS) from accessing specialist care: bostonu.qualtrics.com/jfe/form/SV_4S…

Sundays are for relaxing 💤

Happy Opening Day from Boston.

In August, the cardiac experts at @OLOLhealth discovered that Freshman Sierra Daniel had Wolff-Parkinson-White syndrome during her annual student-athlete physical. This physical included an EKG that detected this rare congenital heart condition that required cardiac ablation

📢 I am excited to announce the 30-hour ABGC Board Review Bootcamp from Thu June 13 - Thu July 25 for those taking the exam in Aug 2024! We will cover 400+ high-yield concepts across all 5 domains from the new ABGC content outline. 1 scholarship also available. Sign up👇#GeneChat

May is Ehlers-Danlos Syndromes Awareness Month. What are the Ehlers-Danlos syndromes (EDS)?⁠ ⁠ The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that vary in how they affect the body and their genetic causes.⁠ 🧬⁠ ⁠ ⁠Variants in the

What are the types of EDS? The current classification includes 13 types of #EhlersDanlosSyndrome (EDS). Each type of EDS has its own set of features with distinct diagnostic criteria. Some features are seen across all types of EDS, including joint hypermobility, skin

That's an A-10 𝓦 😊 The Minutewomen flex their power and claim game one of the Atlantic 10 Conference Championship!! #Flagship🚩

BLUE DEVILS RESPOND ‼️‼️‼️ Frankie Frelick connects on a two-out, two-strike, two-run HOME RUN to push us out in front! T2 | DUKE 2, MIZ 1 | 📺 ESPN2

The moving life story of a patient–scientist: ted.com/talks/sonia_va…

Hoping to connect with some genetic counselors either working in vascular anomalies and/or somatic, tissue genetic testing!