TeleRare Health

⚠️ Pediatric rare disease research faces immense challenges—95% of rare diseases have no approved treatments, and the average time to diagnosis is 4.8 years. This delay results in 30% of children with rare diseases dying before their 5th birthday. We must change this reality. DATAcc by DiMe’s new project is addressing the barriers that #pediatric clinical trials face such as costs, risk, and the lack of tools needed to make this process more efficient and equitable. In developing core digital measures for pediatric rare disease, we will collectively create the resources necessary to: ▪️ Drastically reduce costs ▪️ Streamline clinical trials and reduce risk ▪️ Accelerate the delivery of treatments to the children who need them most Join DATAcc by DiMe in this collaborative, multi-stakeholder effort to create a set of core digital measures for pediatric rare disease that will accelerate lifesaving therapies for the 200 million children worldwide. 🙏 No family or caregiver with a child facing a rare disease should be left waiting years for a diagnosis and even longer for treatment—join us: https://lnkd.in/etepngmc

I’ve been privileged to spend the past few days at the American Society of Human Genetics annual meeting, connecting with colleagues and learning from some of the greatest minds in genetics. At GeneDx, we are at the forefront of advancing scientific discovery, and seeing our data leveraged in many of today’s most groundbreaking research studies is humbling. Today, in collaboration with The University of Washington, Brotman Baty Institute for Precision Medicine, Geisinger, and Seattle Children’s Hospital, we announced findings from a study of 73,000 patients who received exome testing from GeneDx, with 46% of these patients being non-white. The diagnostic rate for GeneDx’s exome testing, when both parents were also tested (trios), was 27.1% for non-white patients and 27.4% for non-Hispanic white patients. These findings highlight that disparities in precise genetic diagnosis are not due to diagnostic yields but rather larger systemic structural barriers. The diversity of the GeneDx data set allows us to deliver a more definitive diagnosis for patients, regardless of their background. We will not stop until every person has access to a comprehensive genetic diagnosis.

A recent discovery has uncovered #genetic mutations linked to severe brain malformations, offering new hope for diagnosis and treatment for #RareDisease patients worldwide. The study originated in Germany and was brought to Canada by Dr. Hanns Lochmuller, Senior Scientist at the CHEO Research Institute and the Ottawa Hospital Research Institute. 🔎So far, it has led to 22 patients receiving a confirmed diagnosis, with additional cases being re-analyzed. “This discovery highlights the importance of re-analysis of genetic data, as oftentimes patients with a rare disease may not receive a diagnosis until years later once new genes are discovered and more information emerges”    Learn more about this advancement in #RareDiseaseResearch here: https://lnkd.in/et-sk-uS Canadian Institutes of Health Research | Instituts de recherche en santé du Canada University of Ottawa #ResearchInnovation

If you're attending American Society of Human Genetics (ASHG), connect with us to see how GeneDx is working to end the diagnostic odyssey through innovation. Leveraging our unmatched dataset, these studies are another step toward transforming care for pediatric patients. Scroll through for an event summary, or check out the schedule below👇 Plenary presentation (collaboration) Expanded newborn screening using genome sequencing for early actionable conditions: results of the first 10,000 participants enrolled in the GUARDIAN study (speaker: Dr. Wendy Chung) Friday, November 8: 6:00-6:20 p.m. Mile High Ballroom Platform presentation (GeneDx) Benchmarking detection of technically challenging pathogenic variants with long-read sequencing and a head-to-head comparison with short-read sequencing in a clinical diagnostic laboratory with Joseph Devaney, PhD Friday, November 8: 11:15 - 11:30 a.m. Four Seasons Ballroom Platform presentations (collaborative work) ‣ Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies ‣ Use of exclusion criteria to select critically ill newborns for rapid genome sequencing captures precise genetic diagnoses missed by use of conventional inclusion criteria ‣ Genome-wide profiling of highly similar paralogous genes using HiFi sequencing ‣ The largest to-date exome study of autism spectrum disorder triples the number of autism-associated genes Poster presentations (collaborative work) ‣ Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yields ‣ Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2 ‣ Genetic etiologies and diagnostic yield of exome sequencing in pediatric motor speech disorders ‣ Evaluating dosage sensitivity predictions for multigenic copy number variants to facilitate clinical interpretation ‣ De novo variants in GTF2H1 underlie variable syndromic developmental delay #ASHG2024 #GeneDx #Genomics

Our first webinar is in the books and we want to ensure all of our followers have a chance to watch it! We are accepting patients in MN, MD, and MI. We will be adding more states soon but for now – we invite you to learn more about us here: https://lnkd.in/gBRVWwnq

"Rare Disease Diagnostics: Influential Dynamics" Exploring influential dynamics shaping rare disease diagnostics sector, focusing on technology, big data, advocacy, and policy influences reshaping diagnoses.

Are you passionate about helping to improve the lives of those impacted by a rare, complex disease? Are you looking to work with a dynamic and passionate team? This may be the role for you. Check out this opportunity.

Thanks for sharing Alexandra Heumber Perry , Volv Global SA is working on what we call inTrigue-ULTRA disease models, which are specifically being designed to address disparity or lack of digital integration. Applied research in progress... we hope to announce more soon.

"This summer, the U.S. Food and Drug Administration announced plans to establish the Rare Disease Innovation Hub (the Hub), and today, we are excited to share more about our progress. The Hub is an FDA cross-center program that will act as the single point of engagement and connection with outside parties for drug and biological product development and as a forum for the Center for Biologics Evaluation and Research (CBER) and the Center for Drug Evaluation and Research (CDER) to collaborate on cross-cutting rare disease-related issues. Through the Hub, we plan to foster a community at the FDA for open dialogue and knowledge sharing to identify new approaches to drug and biologic development and overcome hurdles that have traditionally impeded progress for rare disease treatments." - https://lnkd.in/gHyX-jUx #raredisease FDA

I am a strong believer that AI can enhance, rather than replace, the work of physicians in improving the diagnosis and treatment of people living with rare diseases. It was great to hear more about this topic from my peers Global Genes. At Amicus Therapeutics, we are prepared for the future of healthcare technology and are excited to work together on this journey with physicians and patients. Find out more about the interesting lessons I learned in my latest blog: https://lnkd.in/e6XK9pnW