🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Federal R&D funding accounted for 1.9% of U.S. GDP in 1964 but just 0.6% in 2018. To reinvigorate the U.S. economy and address the #COVID19 pandemic, that number must increase, Sudip Parikh told the House of Representatives Budget Committee. fcld.ly/cdcub85

For decades, the MPS & ML fields have had excellent models to drive therapy development, but not so for MPS IVA (Morquio Syndrome). Pleased to highlight a Nature Comm. pub by Drs. Bertolin & Bosch, et al. at the Universitat Autònoma de Barcelona, of a MPS IVA new model & therapy!

A sobering statistic. We are funding federal research at roughly a third of the rate we were when I was a preschooler.

More progress for MPS & ML patients toward better health outcomes. Today's prospects seem especially rich, with many groups working toward change. Excited to see MPS I in the Gain Therapeutics pipeline, w/ a PCT Patent (filed 02/2021) for use in MPS I! gaintherapeutics.com/pipeline/brief…

So pleased to see Sue Kahn, the Exec. Dir. of a fellow advocacy organization, the National Tay-Sachs & Allied Diseases Association (NTSAD), thus honored as the WORLDSymposium™ 2022 Patient Advocate Leader (PAL) awardee. Well deserved Sue! worldsymposia.org/worldsymposium…

The impact of rare disease patients on the lives of those close to them is tremendous. I am excited to see Nathan Grant's recent scholarly treatment of this issue amongst siblings of those with mucopolysaccharidosis. Congratulations Nathan and colleagues! onlinelibrary.wiley.com/doi/epdf/10.10…

At ~7,000 conditions affecting ~1 in 10, you'd think rare diseases are well enough known. Not so. Lots still to learn, know, and teach. This campaign will fund a documentary tackling rare diseases, and the journey and needs of rare disease community. kickstarter.com/projects/rare/…

Love this time of year for the announcements of the awards for the 2022 WORLDSymposium. Great to see Dr. Stuart Kornfield acknowledged for his foundational discoveries that continue to drive understanding and therapy for ML II/III and similar diseases. worldsymposia.org/worldsymposium…

Are you a parent or carer of siblings of disabled children? Do you want to find out more about supporting siblings? Join our online support session with Sibs on Tuesday 2 November at 7pm. Register here: buff.ly/3ghz3Wx

Breathtaking. Today @Illumina donated $120M for us to launch iHope Genetic Health today. Working with all of you, we will enable sequencing for 10s of thousands of undiagnosed children. ihopegenetichealth.org

Innovative science improving lives of those with MPS and ML. This new project on WGS and MPS II is a collaboration of MPS Families, the MPS Society, Takeda, Luna, and the Genetic Alliance. Partners all on the Hunter Syndrome 100 Patient Project! prn.to/3EY4AqI

Another advocacy organization <> pharma partnership brought 2U by @LunaDNA_ & Genetic Alliance So psyched when we enable advocacy orgs and their members to be the drivers - and grateful for companies like Takeda that know this makes the difference! tinyurl.com/2p8rscfj

So gratified to be at the National MPS Society as we help our MPS II patients and families lead patient driven research and engagement as part of this incredible project!

.Neurology Today's Top 3 Tweets of 2021! #2: The first-in-human trial of gene therapy for Hurler syndrome found to be safe and effective, according to a paper in NEJM from Dr. Maria Bernardo at Ospedale San Raffaele. bit.ly/326i8SX #NeuroTwitter

So glad this important and innovative MPS I clinical trial from San Raffaele/Milan using autologous transplant with ex vivo lentiviral transduced cells is getting some wider coverage. x.com/NeurologyToday…

URGENT - Signatures needed to support nomination of MPS II to RUSP for #NewbornScreening. ow.ly/Up5F50HKNgg

Help Save The Lives of Future MPS II Children Sign on in support of including MPS II as a recommned condition for newborn screening. So that your support can be shared with the committee voting next week, we need this by 11AM EST Thurs Feb 3rd!

The FDA is failing children with a rare, neglected disease sometimes called "childhood dementia" salon.com/2024/01/17/the…

"Effective treatments for Sanfilippo are finally within reach. The question is whether the FDA will allow medicine to deliver on this promise — or if the agency will continue to insist on an unscientific and unethical approval process when it has a better path readily available."

Effective treatments for Sanfilippo are finally within reach. Will the FDA will allow medicine to deliver on this promise? Or will the FDA continue to insist on an unscientific and unethical approval process when it has a better path readily available. salon.com/2024/01/17/the…