Physician Scientist @bcmgenetics @BCM_Pediatrics @SOCRAnow @A_P_S_A @UTMDAnderson 🧬 Single Cell Seq 🧬 When I hear hoofbeats, I think zebras. 🩺🦓 Views own.
Joined February 2022
- Tweets 369
- Following 1,092
- Followers 414
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48 Photos and videos
🧬New from Mechol & colleagues!
📄Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
cell.com/ajhg/abstract/S0002…
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Excited to share our new paper: Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder. Thank you to my co-authors, patients, & their families for making genetic disease discovery possible. @AJHGNews @bcmgenetics
sciencedirect.com/science/ar…
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Happy DNA Day! 🧬
Had a great time drawing pedigrees with next generation of DNA docs! 🩺 Thank you to the Health Museum for having me.
@bcmgenetics
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Audra Iness, MD, PhD retweeted
Apr 21
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 satijalab.org/scgd
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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.
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Audra Iness, MD, PhD retweeted
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 bit.ly/humanMethylationAtlas…
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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
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4 Sep 2025
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
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26 Aug 2025
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.
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27 Jun 2025
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.
16 Dec 2023
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.
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6 May 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.
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13 Apr 2025
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.
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Audra Iness, MD, PhD retweeted
1 Apr 2025
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 satijalab.org/scgd25
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28 Mar 2025
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! 🧫
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25 Mar 2025
Wanted to share my thoughts on 23andMe from the medical genetics perspective. Genetic testing as a whole is more complex than most realize: open.substack.com/pub/audrai…
24 Jan 2025
I have received several questions about direct-to-consumer genetic testing given recent concerns about the future of 23andMe. Here’s my take:
nytimes.com/2024/10/05/busin…
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21 Mar 2025
Congratulations to all the incoming residents this Match Day!
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13 Mar 2025
Medicine has taught me making a decision is better than making no decision.
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