Can you be diagnosed mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), a mitochondrial disease, without actually having a stroke? You bet you can; MELA and not MELAS? Dr. Melissa Walker Melissa Walker Massive Genomics gave a brilliant grand rounds today

Excited to be participating in the @MGHfC Medical Genetics #RareDiseaseDay 2024 Program next week! cpdlearn.massgeneralbrigham.org/course/navigat…

Delighted to introduce PMF-seq: a new way to link genetic perturbations to detailed bioenergetic phenotypes. We use the method to dissect genetics of mitochondrial ETC branching and acute tBID action. Led by T.L.To ⁦Broad Institute⁩. nature.com/articles/s4225…

#RareDiseaseDay

Continuing our study of the somatic segregation of pathogenic mitochondrial DNA variants. T cell activation selects against the m.3243A>G variant in a manner that persists with time/age. Vamsi Mootha Broad Institute MGH Neurology Dept. of Molecular Biology, MGH pubmed.ncbi.nlm.nih.gov/38499449/

📣 Calling all 🧠 child neurologists: Apply 4 Child Neurology Society PERF grants by today Monday April 15 at midnight! For young investig early in academic career or applying for first NIH or CIHR research grant. Can’t win it if you’re not in it 💪🏽 Link: childneurologysociety.org/careers/active…

mtDNA heteroplasmy dynamics are so complex, even paradoxical. To understand why, we combined precise mtDNA editing w/a new method SCI-LITE. In dividing cells, selection (not drift) acts on cell (not intracellular) fitness to shape population heteroplasmy. rdcu.be/dFDCY

Delighted to share new work led by Josh Meisel w/Gary Ruvkun using forward genetics to discover a new mode of post-transcriptional gene regulation. The mechanism involves mRNA methylation and P-bodies to allow neuron-specific mitochondrial gene expression. tinyurl.com/amnjyr5u

Honored to be speaking to families affected by mitochondrial disease with the United Mitochondrial Disease Foundation this evening. x.com/UMDF/status/17…

We were able to squeeze in one more #MitoMed LIVE on our very last day with Dr. Amy Goldstein from Children's Hospital. On her 24th MitoMed Cleveland Anniversary, Dr. Goldstein shares how important it is to be able to welcome and truly foster the next generation of #mito doctors.

Introducing a resource of mtDNA copy number (mtCN) across ~10k human donor-tissues (GTEx), 20 murine tissues, and 173 cancer cell lines. Insights emerge by integrating mtCN w/other large-scale measures, e.g., DepMap cells w/high mtCN resist loss of GPX4. pnas.org/doi/10.1073/pn…

Proud to be part of this incredible all-woman group of pediatric neuro-immunologists: rdcu.be/dTIIZ ...and if you didn't catch this profile of Grace Gombolay, MD in Child Neurology Society Connections, check it out: she's doing amazing things in this field.

Congratulations Gary Ruvkun! nytimes.com/2024/10/07/hea… Dept. of Molecular Biology, MGH Mass General Brigham

New pre-print🚨 Great new story by Miriam Lisci and the lab on metabolic flexibility in #cancermetabolism! 👉🏻A resource: #nutrient & #CRISPR screens +/- #glutamine 👉🏻A mechanism: FBXW7-MYC-PC influences pyruvate anaplerosis and glutamine addiction Please RT Faculté de biologie et de médecine (inactif) EMBO

Single case > new insights. Increased perfusion BEFORE other MRI changes during a MELAS stroke-like episode + ictal-interictal continuum during symptomatic period. Baris Alten, MD, PhD @nsanar Cat Chu MGH Neurology MGH Pedi Neuro doi.org/10.1002/ana.27…

New preprint from the lab! 🚨 🧫 New galactose #CRISPR screening strategy 🎯 481 genes required for #OXPHOS ⚙️ #FAM136A in IMS proteostasis 👂Mito defects in #Menieres disease by Marcell Harhai Faculté de biologie et de médecine (inactif) A short thread 1/5 biorxiv.org/content/10.110…

"People considered me unsuccessful." Katalin Karikó met with biomedicine student Emanuelle Tavares to talk about life and science. Our medicine laureate explains that, despite being terminated from her position, she felt successful as she was always learning in her lab. Watch

🚨 New paper alert! 🚨 Check out our latest work on HypoxyStat, a small-molecule therapy that increases oxygen-hemoglobin affinity and provides a practical form of hypoxia therapy. A great collaboration with Maze Therapeutics 🔗 Paper: doi.org/10.1016/j.cell… Cell

To close out Rare Disease Day, Tasia Rechisky is giving a shoutout to the Dr. Inderneel Sahai. Tasia and all of us here at MitoAction are so thankful to have Dr. Sahai as a part of our mito and FAOD community. Thank you for all you do! #RareDiseaseDay buff.ly/2FCyHGs

nature.com/articles/s4158… Wow!!