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Huge respect for EM docs. Perhaps the hardest job in Medicine

Classic.

We're at the Cleveland Clinic Center for Rare Diseases, a NORD #RareDisease Center of Excellence, for their event ahead of #RareDiseaseDay tomorrow! Here's one of our favorite slides from today's presenters. About 80% of rare diseases are #genetic in origin. That's why

Go, BCM Department of Molecular and Human Genetics residents! Proud to be a part of this wonderful group.

Archaebacteria are considered a hallmark of evolutionary adaptation, thriving in extreme conditions—but they also cannot survive without them. They are adapted, but not adaptable. True resilience is not only enduring extremes, it’s the ability to thrive in changing environment.

We are excited to announce the new Splicing Impact super track for hg38 and hg19. This super track includes AbSplice Scores, SpliceAI, and, for hg38, the new SpliceVarDB track. Learn more at genome.ucsc.edu/goldenPath/new….

There’s a profound difference between waiting to ‘make it’ and actively ‘making it happen.’ True agency lies in proactively shaping your experiences rather than passively accepting your circumstances. Thank you, APSA, for this realization. jci.org/articles/view/…

Interested in single cell genomics but need help getting started? Check out my lab's Single Cell Genomics Day on April 25. Talks will feature recent exciting computational and experimental advances and will be live-streamed at satijalab.org/scgd. Please RT/spread the word!

NIH is centralizing peer review of all applications for grants, cooperative agreements and research and development contracts within the agency’s Previously the NIH Center for Scientific Review. This is expected to save NIH more than $65 million annually & make the review process more efficient.

Medicine has taught me making a decision is better than making no decision.

Congratulations to all the incoming residents this Match Day!

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/audrainess…

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! 🧫

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

Humans are impressively adaptable.

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.

Grateful to have been part of the AAP/ASCI/APSA Joint Meeting—this time as a BCM Pediatrics Residency and BCM Department of Molecular and Human Genetics representative, mentor, and past APSA president. Honored to join leaders across the physician-scientist community, including Lasker Foundation.

See one. Do one. Teach one. Make one.

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 United Mitochondrial Disease Foundation for an excellent #MitoMed 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.