Lysosomal Storage Diseases (LSDs) impact nearly every cell, causing incredibly diverse & progressive symptoms from brain to bone.  Each journey is unique, with severity & onset varying.  Let’s learn all about it to better support our community: march.ai/post/W8DpDGPg/

"Molecular scissors," revolutionized gene editing, enabling breakthroughs like Casgevy for sickle cell. But its DNA cuts could be unpredictable. Now "molecular pencil", precisely changes single DNA letters without cuts, a safer, exciting next step in gene therapy! Learn more:

Hemophilia B has a spectrum of experience. Severity varies by Factor IX activity: from severe (<1%) with frequent spontaneous bleeds, to moderate (1-5%), and mild (6-40%) where bleeds are less common.  Learn all about it to support others: march.ai/post/swusPNBe/

Princess Anne opened Insmed's new R&D facility in Cambridge, UK. This site is dedicated to "synthetic rescue" for rare diseases, aiming to correct genetic code & uncover breakthroughs. Insmed's proximity to University of Cambridge positions it to make a real difference.

Noonan Syndrome research! A specific mutation (Raf1L613V) impacting the brain's glial cells enhanced complex learning & memory in mice. This challenges assumptions & helps explain the wide variability in Noonan Syndrome, offering new insights into cognitive function.

A new state law in Tennessee requires TennCare to provide genetic testing & treatment for Kleefstra Syndrome, just like autism & Down syndrome. A huge step forward for children & families navigating this rare intellectual disability! #KleefstraSyndrome #RareDisease

A plant-based drug, crofelemer, derived from the Amazon rainforest, is showing hope for rare GI diseases! Napo Therapeutics is developing this oral therapy, showing promising results in patients with intestinal failure conditions like microvillus inclusion disease (MVID).

When a disease is extremely rare and linked to our genetics, what does that mean for patients? Let's explore WHIM Syndrome to better understand these unique challenges and how we can best support our peers in the rare disease community.  march.ai/post/naw5XkD6/

Chiesi Global Rare Diseases contributes to "Living Between Pain and Hope," a powerful film on Epidermolysis Bullosa. It amplifies voices like Abrar & Michael, highlighting resilience & inspiring action for rare diseases. #RareDisease #Storytelling

Exciting news for Niemann Pick Disease Type C (NPC) patients. Zevra Therapeutics submitted their MAA to the EMA for arimoclomol (MIPLYFFA®). Backed by 5-7 years of data from over 270 patients, this is a step towards broad access for this ultra-rare genetic disorder.

Lately, Cincinnati Children's received a $27M grant from NCATS, renewing its role as Data Management & Coordinating Center for the Rare Diseases Clinical Research Network (RDCRN). This fuels faster diagnoses & better treatments globally!

Recordati's CEO expects treatments for rare diseases to be exempt from the US 15% tariff on imported European pharma. This "special, better treatment" for rare diseases helps ensure continued access to vital medications.

How do you get medicine across the brain's natural fortress? 🧠🏰 Our new #MarchForward episode explores the "Trojan Horse" method 🐎, a gentler, innovative way to treat neurological symptoms in some Lysosomal Storage Disorders. 💊 Listen now. #RareDisease buzzsprout.com/2537338/episod…

What if we could correct the tiny genetic errors causing rare diseases within the body? 🧬 In vivo CRISPR base editing is making this possible. But what does it really mean for patients? Our new #MarchForward episode, breaks down the science. Listen now: home.march.ai/2025/07/15/tar…

There’s a new FDA-approved therapy for advanced synovial sarcoma called Tecelra. It’s a “living drug” made from a patient’s own cells. ✨🧬 But the process involves weeks of waiting and intense monitoring. ⏳ We cover this in our new episode. 🎧buzzsprout.com/2537338/episod…

Could a one-time treatment replace regular infusions for Hemophilia B? Fidanacogene Elaparvovec (Beqvez) is a gene therapy that teaches your liver to produce its own clotting factor. Find out more in our latest podcast. 🧬\ buzzsprout.com/2537338/episod… #GeneTherapy #Hemophilia

In WHIM syndrome, the immune system makes plenty of cells, but they’re stuck in the bone marrow.  Xolremdi, is the first-ever approved therapy designed to solve this.  🙏 We break it all down in our latest episode. 🎧buzzsprout.com/2537338/episod… #WHIMsyndrome #RareDisease

What if your body’s own defense system was causing the damage? That's the reality of chronic inflammation, a common thread in many rare and autoimmune diseases. 🧬 Today, we break down how it affects the body and how to manage it. 🎧 buzzsprout.com/2537338/episod… #RareDisease

Yale & Google released C2S-Scale: AI that reads cell's gene expression and turns them into text. It's predicted, silmitasertib, a validated therapy. But what about rare diseases? 🧬💡 We break down what it can & can't do. 🎙️✨💪 Listen here: buzzsprout.com/2537338/episod… #RareDisease

1 in 4 rare disease patients wait 5-7 years for a diagnosis, and about 40% are misdiagnosed along the way. 😔 Today, we're discussing how SHEPHERD AI is working to change that, one family at a time. 💡 New episode out. Listen here: buzzsprout.com/2537338/episod… 🎧 🧬