The Role of the UAB Medical Genomics Laboratory in NF Patient Care and Research - Neurofibromatosis Program | UAB uab.edu/medicine/nfpro…

✨Question of the Week✨ Which of the following small molecule drugs is an FDA- approved medicine for neurofibromatosis type 1 (for patients age 2 years and older)?

How are you managing your patients with #NF1-related plexiform #neurofibromas? The experts Bruce R. Korf, MD, PhD, & Miriam Bornhorst, MD, discussed novel targeted approaches at #ASPHO2022. Watch the on-demand version now! bit.ly/3Ds3IuG #NeuroFibromatosis #MedEd #CME

Welcoming our keynote speaker at #CGCAnnual2022 Dr. Bruce Korf Bruce Korf explaining the genomics of #neurofibromatosis through his lenses of years of experience. For LGG board exam takers, I highly recommend checking out Dr Korf’s lectures! Cancer Genomics Consortium (CGC) #cancergenomics

✨Question of the Week✨ NF1 is known to be a variable expressive condition, even in monozygotic twins. Which of the following can explain the variable expressivity seen in NF1?

True or False: The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). These patients have a higher risk of developing schwannomas.

8) Some #’s in the US Familial Hypercholesterolemia= 600k-2mil Muscular Dystrophies= 250k Polycystic Kidney disease= 140k Neurofibromatosis= 120k Sickle Cell= 100k Cystic Fibrosis= 40k Huntington’s= 30k Hemophilia A= 20k Phenylketonuria= 16.5k Rett’s syndrome= 15k

✨Question of the Week✨

Answer Below:

✨New Question✨ If both parents have NF1, what is the chance the couple will have a child without NF1?

ANSWER: 1/3 Homozygous NF1 is not compatible with life. If both parents have NF1, the chance of having a child with NF1 is 2/3 and a child without NF1 is 1/3.

✨New Question✨ Identifying the lesions that cause NF1 presents a complex challenge, which of the following is not the reason:

✨New Question✨ Which of the following health condition is not associated with SMARCB1 gene?

We are excited to hear about your science! #ASHG22

A shoutout to Dr. Bin Guan who represented Medical Genetics & Ophthalmic Genomics at #ASHG2022! His paper is titled “Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy” The poster is displayed on PB2325! #GeneChat NEI NIH

✨New Question✨ Did you know the UAB MGL offers genetic testing for VHL? See our website to learn more!

Jen talks us through her #NF1 diagnosis & the amazing support from the NF clinic at Guy's Hospital. She recounts her educational achievements with great pride, and a new challenge for her to give back and make a difference to the #NFCommunity. Read more: bit.ly/3UnFR77

What an inspirational story of someone with #Neurofibromatosis type 2 #schwannomatosis. Also love his taste in music.

NF1 is inherited in an autosomal dominant manner. Approximately __ individuals have NF1 as the result of a de novo NF1 disease-causing variant. Each child of an individual with NF1 has a __ chance of inheriting the disease-causing variant. Penetrance of NF1 is close to __.

✨New Question✨ True or False: A patient has two orbital plexiform neurofibromas on the same side, and also has sphenoid wing dysplasia. This patient can be clinically diagnosed with NF1 based on the revised NF1 diagnostic criteria.