Explore tweets tagged as #PMM2
At #ASHG2025 in Boston, our team shared new updates on PMM2-CDG research and ongoing efforts to advance care for rare genetic diseases. Collaboration across the scientific and patient community continues to drive meaningful progress for families.
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$APLT 🦉 Applied Therapeutics outlined FDA path for govorestat with Type C feedback and set a Q4 meeting on Galactosemia. And it highlighted new PMM2-CDG data while announcing a board leadership change. #Q3 #report
https://t.co/3usdtV0DiH
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"Not a snowball’s chance in hell." That’s what doctors told Maggie’s parents about treating her PMM2-CDG. They refused to accept that answer. How Hope Was Built: 🔬 Yeast models engineered with Maggie’s exact genetic error 💊 1,000+ compounds screened in months, not years ✨
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What happens after a rare diagnosis? For many, silence. But for some, it sparks a race against time. A child is diagnosed with PMM2-CDG. There’s no treatment, just a name. So scientists and families refuse to wait. 🧫They build living yeast models with the exact patient
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Some kids can’t walk. Can’t talk. Can’t grow like they should. They have PMM2-CDG. A rare disorder that blocks the body from making essential sugars, the ones cells need to function. Doctors had no answers. Then a tiny yeast cell changed everything. 🧫 It was engineered to
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Scientists have created a new way to predict how changes in our genes might affect our health using computers and artificial intelligence. They focused on a gene called PMM2 that's linked to a rare genetic disorder. By combining computer simulations with AI, they can now better
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Have you ever heard about “repurposing”? It means a drug for something else suddenly helps with a rare disease. And it happens more than you'd think. A statin made for cholesterol? Now repairing PMM2-CDG cellular function. An antifungal for pets? Rescuing AARS2-mutated yeast
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PMM2-CDG disorder affects how cells process sugars and build proteins. And it starts early. 👶 Infants and toddlers show symptoms like low muscle tone, seizures, and developmental delays. Families go from doctor to doctor, hoping for answers, and usually hearing: “We don’t
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Can a diabetes treatment be used to cure a rare genetic condition like PMM2-CDG? Curetopia (@endrarediseases) is proving it’s possible, using AI to repurpose old drugs and unlock cures for overlooked rare disease communities.
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Got to have dinner in NYC last week with two PMM2-CDG pioneers: Maggie and Ethan!! Despite a failed trial, we’re still committed to developing treatments for PMM2-CDG. The pipeline is growing. Consensus around combinations is emerging. Designer meds are still the future. LFG!
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Let’s talk precedent. Because a lot of people ask: “Has this ever worked before?” Yes. It has. And here’s how: 👇 🧪 In PMM2-CDG, yeast avatars helped flag Epalrestat as a potential treatment. Today, that drug is used in Japan, trials, and conversations globally. 🧬 For NGLY1,
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Cheguei da facul 17h Deitei pra tirar um leve cochilo pq tava muito cansado, ia acordar pra aula de PMM2 as 19h Acordei agr
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Perlara’s platform is already changing lives 🧪 Their yeast-based drug repurposing strategy previously helped identify epalrestat as a potential treatment for PMM2-CDG. That discovery is now being translated into clinical trials through @eparestat (Maggie's Pearl), a joint
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🧬💰 Glycomine Secures $115M Series C to Advance Rare Disease Therapy Glycomine just raised a massive $115 million Series C to fuel its clinical development of GLM101, a first-in-class therapy for the ultra-rare genetic disorder PMM2-CDG (phosphomannomutase 2-congenital disorder
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Nothing was the same deluxe best song: Pound Cake/Paris Morton Music 2 worst song: jsp 305 to my City underrated song: Too Much best 3 track run: Too Much - Pound Cake / PMM2 / Come Thru rating: 9.3/10 ranking in discography: 1 (sans avoir écouté take care)
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