Kathryn (Kate) Mraz

ArtsyOptimist|Adventurer|Climber|ZipperClub💔|ForwardThinker|Scientist| Genetic Counselor: Research, Cancer, GI,⬆️Risk PancCa Surveillance|Advocacy |MyViews

[Kathryn (Kate) Mraz @ZazzyMrazzy]

@nowthisimpact Should look into benefits from fish oil and poly prevention

[Kathryn (Kate) Mraz @ZazzyMrazzy]

Networking at #ASHG24

[Kathryn (Kate) Mraz @ZazzyMrazzy]

@jechristensen Another paper you may like https://t.co/jSCDYzGFNQ

[Kathryn (Kate) Mraz @ZazzyMrazzy]

Honoring @brkorf for a lifetime achievement award at #ACMG2024

I learn something new from Dr Korf everytime we’ve interacted over the yrs. So happy for him today 🤓🧬

[Kathryn (Kate) Mraz @ZazzyMrazzy]

Congrats @HHampel1 on being a recipient of the Natalie Weisberger Paul National Achievement Award

Way to go HH! Long overdue🤗🤓🧬
#NSGC23 #genetics

[Nick Vitanza @VitanzaNick]

I’ve never been under anesthesia and I’m still relatively new at running a lab, but I assume this message to my team is the standard approach?

[Frontiers Publishing Partnerships @FrontPartners]

🚨POR Editors' Pick of the Month!🚨

Researchers from @Ostravska_Uni and @UPOlomouc review the tumor process and treatment options for #SCLC and discuss the emerging predictive biomarkers for this condition

Read and download the full article ⬇
https://t.co/Pm81yqVXVi

[Frontiers Publishing Partnerships @FrontPartners]

📢New to #Pathology and #Oncology Research!

Researchers from @semmelweishu, @MedUni_Wien and the National Koranyi Institute of Pulmonology investigate the expression of PD-1 and PD-L1 in rare pulmonary tumor cases

Read and download the full article ⬇
https://t.co/gm8VHabVWO

[Frontiers Publishing Partnerships @FrontPartners]

New research from @TAMUmedicine explores the legacy of vascular pathology after prenatal alcohol exposure to better understand the neurological deficits typical of #FetalAlcoholSpectrumDisorder.

Read the free full text in @INRCmeeting & IDARS title ADAR 👉https://t.co/jwd9qM2dSV

[Kathryn (Kate) Mraz @ZazzyMrazzy]

“Cardiovascular genes have been represented on the ACMG secondary finding list since it’s inception because of the “morbidity and mortality of #HeartFailure and #SuddenCardiacDeath which can both be treated or prevented with well-established interventions””
-
#ACMG

[Kathryn (Kate) Mraz @ZazzyMrazzy]

#ACMG adds 3 new #genes to secondary finding list which cause predisposition to #LongQT
•CALM1
•CALM2
•CALM3

#cardiovascular #genetics #genechat #Cardiology

[GenomeWeb @GenomeWeb]

ACMG Adds Three New Genes to Secondary Findings List. The American College of Medical Genetics and Genomics has added three new cardiovascular genes to the latest release of its secondary finding list. https://t.co/bab5oPGU5i

[Kathryn (Kate) Mraz @ZazzyMrazzy]

@HHampel1 @LGtheCGC I have a super comfortable pair of flats that I use for conferences… I think I might have 2 pairs (from Target??)

They’re always my go to except at ACMG when I forgot to pack my shoes… and really pulled off some LifeStride grey slip ons from Kohls. Lifesaver…🛟

[Kathryn (Kate) Mraz @ZazzyMrazzy]

@ZazzyMrazzy #RachelHodan #LindaRodgersFouche @SanjeevaniArora @frankbalaguer #JoseGuillem #JoanneJeter #PriyankaKanth #DanLi @DavidLiskaMD #JoshuaMelson #KimberlyPerez @ChariteRicker #BrianShirts @evilarsan #BrysonKatona @mev_dv

[Kathryn (Kate) Mraz @ZazzyMrazzy]

⚡️Do you see #FAP or #Lynchsyndrome pts?
⚡️#chemoprevention questions?
➡️barriers
➡️factors to weigh
➡️dosage
➡️multidisciplinary decision

You aren’t alone!

Check out @CGAIGC Research Committee global survey:
#CRC #gastroenterology #cardiology #aspirin https://t.co/m8TDKAvA3q

[Kathryn (Kate) Mraz @ZazzyMrazzy]

⚡️Do you see #FAP or #Lynchsyndrome pts?
⚡️#chemoprevention questions?
➡️barriers
➡️factors to weigh
➡️dosage
➡️multidisciplinary decision

You aren’t alone!

Check out @CGAIGC Research Committee global survey:
#CRC #gastroenterology #cardiology #aspirin https://t.co/m8TDKAvA3q

[Heather Hampel @HHampel1]

Germline pathogenic variants in the POLE & POLD1 genes cause Polymerase Proofreading-Associated Polyposis.
🔒Autosomal dominant
🔒30-100 adenomas
🔒Possible increased risks for brain & endometrial cancers
🔒Ultrahypermutated tumors
🔒Signature 10
#ColorectalCancerAwarenessMonth

[Heather Hampel @HHampel1]

Familial Adenomatous Polyposis (FAP): >100 adenomas
Usually requires colectomy to prevent CRC
Attenuated FAP: 30-100 adenomas
Can sometimes be managed w/frequent colonoscopy
Caused by mutations in the APC gene
25% of APC mutations are de novo
#ColorectalCancerAwarenessMonth

[Heather Hampel @HHampel1]

IHC result with absence of MLH1 & PMS2. Possible explanations include (most likely to least):
1. MLH1 promoter hypermethylation
2. Double somatic MLH1 mutations
3. Lynch syndrome
All other abnormal IHC findings in CRC are more likely LS than DS. #ColorectalCancerAwarenessMonth

[Historic Vids @historyinmemes]

An Australian farmer couldn't attend the funeral for his aunt so he laid out grain in the shape of a heart so "she can see it through the clouds.”

[Ibrahim Halil SAHIN, MD @IbrahimSahinMD1]

✳️Colorectal cancer is now the leading cause of cancer related death among males aged 20-39 and 40-49 ‼️It was third among 20-39 age group last year.
✳️ Concerning trend is also seen in young women; CRC related death and will likely surpass breast cancer in near future @OncoAlert

[AJG - The American Journal of Gastroenterology @AmJGastro]

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer
Boland, et al.
📕https://t.co/xlDHUYrkLK