geneticist, pathologist, physician-scientist, mama to 👶🏻👧🏻👦🏻. Fil-Am. @UCLA @dgsomucla. musings are my own.
Los Angeles, CA
Joined July 2014
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Amazing graduate student, Michael Reyes giving a stellar talk about ASXL1 and metabolic defects at #ASHG2025 !
Valerie Arboleda MD, PhD 🤷🏻♀️ retweeted
🎉 Dr. Imir Metushi – 2025 ASCP 40 Under Forty Honoree! 🎉
UCLA Pathology's Dr. Imir Metushi has officially been named one of the 2025 ASCP 40 Under Forty honorees, a prestigious recognition that celebrates the achievements and innovative contributions of the most dynamic young leaders in pathology and laboratory science!
Why Dr. Metushi stands out among the best:
🏅 Section Chief at UCLA’s Olympic Analytical Lab 🧠 Expert in toxicology, drug monitoring & anti-doping science
🌍 Mentor to future lab leaders across the globe
This honor places Dr. Metushi among an elite group of 40 professionals under 40 who are transforming lab medicine with brilliance, compassion, and leadership.
🗳️ Let’s take it one step further—vote for Dr. Metushi to be one of the Top Five! Your vote helps spotlight the changemakers who are redefining healthcare from behind the scenes.
👉 Vote for Dr. Metushi: bit.ly/4n74YJl
#ASCP40UnderForty #VoteMetushi #LabMedicineLeader #UCLA #ClinicalChemistry #PathologyInnovators #FutureOfDiagnostics #Pathology #Path2Path #PathX #PathTwitter
Congratulations to the 2025 ASCP 40 Under Forty honorees! This prestigious award recognizes the achievements and innovative contributions of leading laboratory professionals and residents. To learn more about the honorees visit bit.ly/4fTklCL. Cast your vote for the Top Five before voting closes on September 12.
#ASCP40UnderForty #StrongerTogether
Valerie Arboleda MD, PhD 🤷🏻♀️ retweeted
.@AJHGNews sat with @ArboledaVal in the latest "Inside AJHG" to discuss her recently published paper, “Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.”➡️ ashg.org/ajhg/inside-ajhg-a-… #ASHG #GeneticsDiscoveries #HumanGenetics
ALT Valerie Arboleda, MD, PhD
New paper out in Nat Commun 🔬
“Investigating the sources of variable impact of pathogenic variants…”
We show that pathogenic carriers' outcomes vary due to 1) variant effect sizes via ESM1b, 2) polygenic background, and 3) marginal epistasis
Kudos to first author & grad student Angela Wei for leading this! Read more here: rdcu.be/epzLx
Our latest study in AJHG shows how chemoproteomics can help prioritize disease-linked missense variants 🧬
1/2
CpDAAs = hotspots for pathogenicity
Big implications for variant interpretation & drug discovery doi.org/10.1016/j.ajhg.2025.… #Genomics #Proteomics #RareDisease @AJHGNews @BC_UCLA @UCLA_Pathology 2/2
A fun collaboration with @Keribackus and led by @mariafpalafox !
Congratulations to Dr. Isabella Lin for passing her dissertation defense yesterday!! @uclacaltechmstp I couldn’t be prouder 😊
Valerie Arboleda MD, PhD 🤷🏻♀️ retweeted
@USAndChennai I m a postdoc researcher @UCLA_Pathology @dgsomucla. Travelled to India for family emergency, submitted docs for visa renewal at delhi on 19th oct. Only update on visa status is application received. My return flight is on Nov 2 midnight. Can you help?
Valerie Arboleda MD, PhD 🤷🏻♀️ retweeted
Researchers identify potential new strategy to prevent side effects from immunotherapy | UCLA Health uclahealth.org/news/research…
Valerie Arboleda MD, PhD 🤷🏻♀️ retweeted
Our work on fine-scale identity-by-descent clusters in the UCLA ATLAS Biobank was published online today! I'm immensely proud of this work and its implications for the health of diverse populations in my home, Los Angeles 🌴
nature.com/articles/s41591-0…
Trying to decide if I should spend the time resubmitting an NIH grant that was right on the cusp. So my poll: have you ever had a JIT request and an era status that said "award prepared", and then had the not funded?
0%Yes, it happens, resubmit
100%No, wait for next cycle
2 votes • Final resultsA late ‘proud post’ — it’s been a busy couple of weeks with many lab and personal milestones . Last week MSTP Isabella Lin presented her research at ESHG in Scotland!
And, of course, graduation festivities for @spendlove_sarah— one of two PhD graduations in the lab
Valerie Arboleda MD, PhD 🤷🏻♀️ retweeted
Finally finished my PhD! I have so much gratitude for my twitterless advisor, Noah, and the whole Zaitlen lab
Amazing work by Isabella Lin— MSTP student in the lab ! Thanks to all the families that helped us in this journey!
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation: buff.ly/3N1apdE
@ArboledaVal @dgsomucla
#Development #Genetics
