A groundbreaking achievement in genetic medicine has emerged as the European Medicines Agency (EMA) recommended approval of Waskyra (etuvetidigene autotemcel), the first gene therapy specifically
As reported on PharmaBiz, the National Organization for Rare Disorders (NORD) has announced a new request for proposals (RFP) aimed at nonprofit patient advocacy groups
The developer of the Promega OncoMate MSI Dx Analysis System recently announced the FDA’s approval of the system identifying patients who may benefit from the
As reported on World Pharma News, a collaborative research team from the Medical University of Vienna, HUN-REN Research Centre for Natural Sciences, and Eötvös Loránd
Hypereosinophilic syndrome (HES) patients may finally have a meaningful treatment option. According to an article published at BusinessWire.com, AstraZeneca’s FASENRA (benralizumab) has shown statistically significant
Tonix Pharmaceuticals announced plans to initiate Phase 2 clinical trials in 2026 for TNX-2900, an innovative intranasal oxytocin formulation designed to treat Prader-Willi Syndrome (PWS),
At the 76th annual AASLD Liver Meeting®, Novo Nordisk presented new findings from a post hoc analysis of the ESSENCE phase 3 trial, highlighting the
Nexiguran ziclumeran (nex-z), an investigational CRISPR-Cas9 gene therapy for transthyretin amyloid cardiomyopathy (ATTR-CM), continues to demonstrate long-term efficacy in early-phase research, even as its phase
Takeda Pharmaceutical Company announced promising interim data from a Phase 1b clinical trial demonstrating that mezagitamab (TAK-079), an experimental immunotherapy, maintains kidney function stability for
Why Rare Diseases Pose a Diagnostic Challenge As discussed in the Orphanet Journal of Rare Disease, a “rare disease” is defined as a condition affecting
Biohaven Pharmaceuticals faced a significant setback when the U.S. Food and Drug Administration issued a Complete Response Letter (CRL) rejecting the company’s New Drug Application
Please go HERE to read Part 1 of this article The company, GEMMABIO, will pursue a number of rare, large indications. A new spinout, RareTx,
My name is Danielle, and in 2021, I was diagnosed with Stage 3 MASH, a life-threatening liver disease. I consider myself lucky because I had no
Written by Diane Wilkie My hATTR story began in the mid-1960’s when my father, a healthy, strong, outdoorsy guy in his late 40’s started tripping,
The U.S. Food and Drug Administration has approved UCB’s Kygevvi, marking a historic milestone for patients with thymidine kinase 2 deficiency (TK2d), an ultra-rare inherited
Editor’s Note: This story is a continuation of Jenny Decker’s global sailing voyage. To see the original article, please click here. Jenny Decker’s journey called
Prader-Willi syndrome (PWS) is a rare genetic disorder affecting approximately 1 in 10,000–30,000 individuals worldwide. It is the leading syndromic cause of obesity, with an
There’s a lot to consider when you’re facing tumor removal surgery. Think about mandible or jaw surgery, for example. Your face is part of every
@CureSyngap1 @Ultragenyx @Novartis.AAV. Resources on cureSYNGAP1.org. Congrats to Ultragenyx & Novartis. Conf is in 5 days! #s10e190
👀🎧View full episode here: youtu.be/tsySAwbbySo
Happy Thanksgiving… Thursday, November 27, 2025. Week 48.
Continued from #S10e189…
And the AAV Paper (pubmed.ncbi.nlm.nih.gov/40988338/) from #S10e187… curesyngap1.org/podcasts/syngap10/clinical-research-ai-dx-nl47-survey-autism-press-6-days-to-regi...
curesyngap1.org/blog/
Issac’s story, Transmitter reprint, Scramble 4 write up and JK on #Autism, #MustRead
curesyngap1.org/resources/webinars/ 119 - 112
Register for livestream of the conference, AAV from Allen Inst., dos en espanol, Missense, Unlock and Rare-X for ProMMiS.
curesyngap1.org/podcasts/syngap1-stories/
A gold mine have you listened to #38, the Virginie Pod, really must listen, she is our leader. www.linkedin.com/posts/graglia_syngap1stories-syngap1-syngap1storiesty-activity-73872033519077089...
CLINICAL TRIAL & GENETIC MEDICINE CORNER
Example of Ultragenyx FAST Angelman follow on trial to look at other ages and genotypes, key message, never give up. www.linkedin.com/posts/cureangelman_the-global-aurora-study-will-enroll-approximately-activity-73...
Congrats to Novartis on approval of the first Gene Therapy to Cure SMA!
www.linkedin.com/posts/graglia_sma-fdaapproval-rarediseaseinnovation-activity-7398939783005347840... Remember Spinraza was approved in December 2019.
TODOS
1. Sign up for Citizen Health: www.citizen.health/partners/srf
2. USE YOUR ICD-10 F78.A1 #S10e185 www.youtube.com/watch?v=dale0NbxDpU
3. Go to CURE SYNGAP1 Conference 2025 Atlanta: curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
SOCIAL MATTERS
4,468 LinkedIn. www.linkedin.com/company/curesyngap1/
1,480 YouTube. www.youtube.com/@CureSYNGAP1
11.2k Twitter twitter.com/cureSYNGAP1
45k Insta www.instagram.com/curesyngap1/
$CAMP stock is at $3.62 on 26 Nov. ‘25 www.google.com/finance/beta/quote/CAMP:NASDAQ
Episode 190 of #Syngap10 #CureSYNGAP1
@OneBlood #donateblood #donatelife
@Charcot-Marie-Toothassociation
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