Interested in single cell genomics but need help getting started? Come to my lab's 10th (!) Single Cell Genomics Day on 6/12
Talks include Aviv Regev @anshulkundaje@junyue_cao@xinjin + (many) more + @ATJCagan illustrations!
Free Youtube livestream at https://t.co/KJpeGwXjxZ
Yes! I always counsel patients on the possibility of re-analysis of their genetic data. As our knowledge grows, so does diagnostic yield. There’s always more to discover.
one of the reasons i became a medical geneticist: the genome is the only medical test where we measure once, but our interpretation evolves indefinitely.
as our models and variant knowledge mature, the same data yields new truths, and eventually, actionabilities.
the genome (and its derivative products) are the ultimate substrates for AI in medicine.
We are excited to announce the release of the Human Methylation Atlas Summary and Signals tracks for hg38 and hg19. The tracks display genome-wide DNA methylation profiles across 39 primary human cell types from 205 healthy tissue samples.
Learn more at https://t.co/GB3hxaYo1H
Happening Now! Tonight we’re joined by Dr. Danielle Sawyers, (@DanielleSawyer_), Dr. Audra Iness (@AudraIness), and Dr. Judy Wang to discuss Funding Your Future: F30 Fellowship. Stay tuned for live updates! #APSAWebinar
What does a Medical Geneticist do?
We work at the intersection of medical practice & scientific discovery—because each genome is unique.
We collaborate w/ physicians, counselors, diagnostic labs, patients, & advocates to turn these discoveries into medically actionable insights
I recently had the pleasure of meeting colleagues @ChildrensNatl as part of the Rare Disease Clinical Scholars Program.
Rare diseases show us that meaningful intervention is not only necessary—but possible—even for N=1. Looking forward to advancing precision medicine together.
@morgancheatham Thank you for the encouragement, @morgancheatham! Big congrats on your new role and wishing you all the best as you start residency. You’re going to do amazing—you already are! ☺️
I am also grateful to the patients and families who have taught me and allowed their stories to be shared, so we can all continue learning and growing. There is still so much we do not know — and may never fully understand — but we show up and do our best every day.
Working with patient-derived samples reminds me of our ethical duty to have thoughtful study design & obtain meaningful results. It is a powerful experience & I am grateful to patients who make discoveries possible.
2 posters, 1 mission: mitochondrial precision medicine
🧬 Single-cell NUMT detection pipeline
🩺 Severe dengue in mitochondrial disease
Honored to be a scholarship awardee & stand at the intersection of the bench & bedside. Thank you @UMDF for an excellent #MitoMed 2025!
Grateful to have been part of the AAP/ASCI/APSA Joint Meeting—this time as a @BCM_Pediatrics and @bcmgenetics representative, mentor, and past @A_P_S_A president. Honored to join leaders across the physician-scientist community, including @LaskerFDN.
Interesting how evolution favors redundancy, but I’ve never understood why we have 2 active kidneys—both simultaneously vulnerable to injury. Why not 1 functional kidney, & 1 metabolically dormant backup, ready in case the 1st fails?
Just seeing too many failed kidneys lately.
Interested in single cell genomics but need help getting started? Check out the full agenda for our Single Cell Genomics Day on Friday 4/25. All talks will be live-streamed (no registration required) at https://t.co/JqaO6urVPF
I always feel a bit conflicted diagnosing a rare disease. On one hand, I’m providing an answer. On the other, I’m introducing a new set of questions.
There’s still so much we don’t know in medicine—but what I do know is I’m dedicated to figuring it out.
Back to the lab! 🧫
Wanted to share my thoughts on 23andMe from the medical genetics perspective. Genetic testing as a whole is more complex than most realize: https://t.co/uhMrA50Vpy
I have received several questions about direct-to-consumer genetic testing given recent concerns about the future of 23andMe. Here’s my take:
https://t.co/fPYNc2153l
@Jason Curious to hear the outcome of your experiment, @Jason! It was great meeting you at the recent All-In Live event in Austin. Looking forward to the Summit!