For Arielle, growing up eating ice cream for breakfast wasn’t unusual, it was part of managing something no one fully understood. Her mom's reason: "Your calcium's low.”
It wasn't until she was 16 – and years later for her son – that their family finally received a diagnosis: #ADH1. Her story is one you need to hear. 🎧 New episode of #OnRarePodcast here: https://t.co/rf2blku3h8
Honored to support the CureLGMD2i Foundation European LGMD2I/R9 Patient & Family Conference in Denmark! 20+ countries came together for community, science, and hope. The "Ask the Expert" Q&A with Professor John Vissing (@uni_copenhagen), Dr. Katherine Mathews (@uiowa) & Professor Volker Straub (@UniofNewcastle), moderated by Kelly Brazzo, showed that when the community asks, experts can help to deliver. Thank you to CureLGMD2i for putting on event that moves critical dialogue forward!
On #WorldHypoparaDay, we stand with families managing life with #ADH1, a common genetic form of #hypoparathyroidism. Emma has lived with ADH1 since infancy. Twelve doses of medication a day through the night, at school, every day. How does she manage? "You do what you got to do." Her resilience deserves better. Earlier diagnosis. Real answers. Today, we raise awareness and stand with the community.
Too many people living with #hypoparathyroidism go years without a diagnosis. For #ADH1, a common genetic form, answers sometimes only come after a family member's genetic test points the way. Earlier diagnosis means earlier answers. And answers change lives. On #WorldHypoparaDay, the community is not alone. We're just getting started.
At the World Heart Summit and the Forum for Neglected Cardiovascular Diseases, the conversation kept coming back to the same truth: the science to address cardiovascular disease, including in the most neglected communities, already exists in many cases. What's missing is urgency and access. Thank you @worldheartfed for bringing the right people into the room and keeping the focus where it belongs.
Our Founder & CEO Neil Kumar on why rare disease is where we want to be. Full conversation with @Roivant CEO @gline on @BiotechTV's Off-Target Effects: https://t.co/X1M7eYrcz6
The FDA accepted our NDA for BBP-418 for LGMD2I/R9 with PDUFA target action date: November 27, 2026. First-ever potential therapy for a disease that has never had one. $BBIO https://t.co/NrwDadc6rj
Some people with abnormal calcium levels may not realize their symptoms, like tingling, fatigue, or brain fog, are linked to a genetic hypoparathyroidism condition called #ADH1. A cheek swab for genetic testing takes seconds and can help families better understand their health and the health of future generations. Hear from families who came together with the @HypoPARAassoc to learn more with a simple cheek swab test: https://t.co/SiZJP19NgA
"No one's doing genetic disease research right now. I could call an academic after they publish and be the first company calling them."- Neil Kumar at #STATBreakthrough
That's not a complaint. That's an opening. Three potential FDA approvals on the horizon. A pipeline built on contrarian bets. This is what building an independent biotech looks like.
New post-hoc exploratory data in @JCardFail examines serum TTR, cardiovascular mortality & hospitalization, and treatment with a TTR stabilizer in patients with ATTR-CM. Serum #TTR may serve as a clinically informative biomarker for ATTR-CM cardiovascular risk assessment following stabilizer initiation. Learn more: https://t.co/QeYJLE3Jkc
That's a wrap on #PES2026! 🙌
Grateful for many incredible moments: 3 booths on the floor, quality time with @HypoparthyroidismAssociation and other key voices in the community, and multiple skeletal dysplasia posters on site. See you next year!
Building a biotech to last is the rarest of things in this industry. Our CEO Neil Kumar will sit down with @Insmed CEO Will Lewis and @statnews senior biotech columnist @AdamFeuerstein on May 19 at the #STATBreakthrough Summit West in San Francisco. They'll talk about what it takes to stay independent, remain focused, and let nothing come between you and the patients. See you there.
This Women's Health Month, we're proud to partner with BlackDoctor and BridgeBio Pharma to spotlight a serious and often missed heart condition: ATTR-cardiac amyloidosis (ATTR-CM).
New survey findings show there's a clear gap in awareness, especially among Black women. Many of them haven't heard of ATTR-CM or been screened.
ATTR-CM is often underrecognized and underdiagnosed in women. And it is frequently mistaken for menopause or aging, which can delay diagnosis and early care.
It's time to change that!
If you have symptoms like unexplained fatigue, shortness of breath or swelling, ask your healthcare provider about ATTR-CM.
Read the full announcement:
https://t.co/O9HTltX4CY
We don't hope for breakthroughs. We build toward them. At #MIGlobal, our CEO and Co-Founder Neil Kumar joined @Bloomberg live to talk about what focused execution looks like in practice – targeting genetic disease at the source, with 3 therapies through FDA approval and 3 more potentially through the FDA in the next 12 months. Every minute counts and we're just getting started.
Two milestones for #ADH1: CALIBRATE Phase 3 primary data at #ECE2026 and our NDA is now submitted to the FDA. A first-ever approved therapy for ADH1 could soon be a reality.
Learn more: https://t.co/6FIzwOyPHK
We are thrilled to share new data for ATTR-CM in clinical outcomes, biomarkers, and functional capacity in one late-breaking oral presentation, two moderated eposters, and two posters at #HeartFailure26. Learn more: https://t.co/yEDJTYDYCe
This Mother's Day, we're thinking of every mom, who has ever had to explain the unexplainable, advocate in rooms that weren't ready to listen, and still show up with hope. We wish all mothers a day filled with appreciation and joy. Watch our the Mothers of Resilience video developed by the CureLGMD2i Foundation and supported by BridgeBio, to see Mothers who exemplify this: https://t.co/WMFLqDAsiS
Thank you to @patientaccess for hosting the Rare Disease Working Group. Clinicians and patient advocates came together to identify access barriers and align on policies that protect patients' ability to get the care they need. This is the work that moves the needle.
We exist to develop transformative medicines for genetic conditions. Today, we announced our financial results for the first quarter in 2026 and provided an update on our commercial progress. Learn more: https://t.co/7svhKDVKDU
10,000+ rare diseases. 30 million Americans affected. The data matters, but our Founder & CEO Neil Kumar reminded us at #MIGlobal why the stories matter more. Watch the full @MilkenInstitute panel: https://t.co/mAnbzU79r8