🧬 The SNPPET #14: treatment for Huntington's and SCID; more pharma exits from cell therapy; NCCN Navigator and more....

 👋 Hi Genetic Counsel(l)ors & friends 

🍁🍂This autumn is proving to be exciting with Roche announcing its pricing per Gb for the SBX technology greatly undercutting Ultima’s and Illumina’s pricing; Element Bioscience is countersuing Illumina for anti-trust and patent infringement; BilliontoOne filing for an IPO and Natera, Guardant and Exact Sciences duking it out over the 400B$ oncology market. Never a dull moment in genomics!!🍿

Don't miss our next Innovation Exchange in October tomorrow with Ana Morales and Kelly Tangney. Register here!

💼 Participate in / Share Research

Equity in Genetics: Expanding access of genetic testing and counseling in low- and middle-income countries (LMICs).

Pravalika Rayala, a Master’s in Genetic Counseling student at the University of Maryland, is conducting a research study on genetic counseling and genetic testing services in LMICs. We invite any medical professional practicing in a LMIC to complete an anonymous survey, even if one or both services aren’t available in your country. The study is voluntary and should take about 15-20 minutes to complete. Please contact the study PI, Kristin Maloney, at the [email protected] if you have any questions.  The study ID is HP-00115707. https://umaryland.az1.qualtrics.com/jfe/form/SV_eG4eep7TTsgwsSO 

🌟GC Spotlight

A shout-out genetic counsellor, Monica Araujo, who wrote a children’s book exploring genetics! Download a pdf of the book here.

Now onto the newsletter!!

This Issue:

• Therapy and Industry-related

• Publications and Guidelines

• Professional Issues and Training

• Jobs

• SNPPET Events and Calendar

• Conferences and Events

• Webinars, Podcasts, Courses

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Therapy-related 🌟 

🧠✨ For the first time ever, Huntington’s disease has been successfully treated using groundbreaking gene therapy. 🧬 Developed by researchers at University College London and biotech firm uniQure, the treatment slows disease progression by 75%, giving patients years of better quality life.

💉 Delivered through 18 hours of delicate brain surgery, the therapy uses a modified virus to silence the faulty gene that kills neurons. 🌈 Scientists call the results “spectacular,” marking a historic breakthrough that brings real hope to families.

🎉 Landmark gene therapy cures 95% of children with ADA-SCID ("bubble boy" disease)! Largest study to date followed 62 children for average 7.5 years after receiving one-time lentiviral gene therapy using their own stem cells. Results: 100% survival rate, 95% cured (59/62), all off enzyme therapy, responding to vaccines, and living normal lives. 👶💉

The therapy uses patients' own hematopoietic stem cells genetically modified to produce the missing ADA enzyme. Game-changer: frozen cell preparations worked just as well, allowing local collection and remote processing - broadening access without travel to specialist centers! Full details here. FDA approval expected in 2-3 years! 🧬✨🏥

🚨 Big pharma exodus from gene & cell therapy continues: Biogen officially ends all AAV gene therapy work, joining Roche, Takeda, Vertex and Pfizer in walking away from the field. 💔 Meanwhile, Takeda takes $394M hit to abandon all cell therapy research - despite previously calling it a "strategic pillar."

💊 Nome is a company founded by a patient developing their own therapy. It uses AI to create customized gene therapies for rare disease patients the system doesn't help today. 🤖🧬 Patients and clinicians can fill out intake form to explore if custom therapies are possible for their disease of interest. 💡✨

Industry-related 🌟 

🧬✂️ New DNA editing breakthrough published in Science: Researchers discovered bridge RNAs in bacterial "jumping genes" that enable massive, precise genome edits - allowing them to insert, cut, or flip sequences up to 1 million base pairs! 🤯 The team successfully corrected disease-causing DNA repeats in Friedreich's ataxia and believe the approach could work for Huntington's disease and other repeat expansion disorders. This could be a game-changer for treating neurological conditions! 💡🧠 

🧫 The 2025 Nobel Prize in Physiology or Medicine was awarded to Mary E. Brunkow, Fred Ramsdell, and Shimon Sakaguchi for their discoveries on peripheral immune tolerance - the mechanism that prevents the immune system from attacking the body’s own tissues.💡 Their groundbreaking work transformed understanding of immune regulation and paved the way for new therapies for autoimmune diseases, cancer, and transplant medicine.

👶🧬 Mayo Clinic’s BabyFORce program is revolutionizing newborn care by combining rapid whole-genome sequencing (rWGS), AI, and functional omics to move from diagnosis to personalized treatment for babies with rare diseases. ⚡ This innovation lets doctors uncover therapies within months instead of years, sometimes identifying existing FDA-approved drugs that can be safely repurposed. 💊 In one case, AI pinpointed a treatment that dramatically improved a baby’s development within weeks. 🌟

📈🎉 Check out this post about genomics companies in Europe to watch!! Will be following these! 🕵️ Bookmark for potential job opportunities!

Publications and Guidelines 🌟 

‼️NCCN Update! For those who found NCCN PDFs difficult to navigate (or you have colleagues who do), check out the NCCN Guidelines Navigator™, a new platform launched to create an interactive way to understand and utilize these guidelines. It already includes the Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate guidelines! 🤯✅

🧬 This abstract outlines the development of a business case toolkit to help cancer programs hire and effectively use certified genetic counselors. 💼 Drawing on interviews and a landscape analysis, the project identified common barriers, such as lack of organizational awareness, and key success factors, such as demonstrating clinical and financial value. 🚀 Find a link to the toolkit HERE!

📊Memorial Sloan Kettering Cancer Center developed a digital Genetic Risk Assessment tool to identify individuals at high risk for hereditary cancer and streamline genetic care. 💻 Using a questionnaire and algorithm aligned with NCCN guidelines, the tool triages patients for testing or counseling, improving efficiency and reducing unnecessary clinic visits. 🚀 After its 2025 integration into Epic, “direct-to-test” cases increased - showing the tool’s potential to expand access and optimize genetic counseling resources.

👶🧬 BillionToOne’s recent article about cystic fibrosis screening in NIPT highlights that among over 100,000 pregnancies screened, cfDNA testing achieved 100% sensitivity, accurately identifying all known affected fetuses early in pregnancy. ⏱️ They found 95% of high-risk results involved CFTR variants eligible for modulator therapies.

🔏🧬Last month we highlighted an article that discussed genetic data ownership, particularly during business transitions. This month, we’re sharing work done by Georgetown Law on government access to genomic data in the United States.

Professional Issues and Training 🌟 

⭐📚Modern Reproduction is an educational hub on reproductive genetic testing created by genetic counsellor Kim Skellington, to get patients and providers on the same page.

💼 Job Opportunities

New this month:

• Genetic Counsellor / Metagenomics Counsellor - Phenome Longevity, London, UK

• Asesora de Genetica - IVI RMA Global, Madrid, Spain

• Implementation Scientist - Sofia Genetics, DACH region (remote)

• Genetic Counsellor (60-100%) - Hirslanden Precise AG, Switzerland

• Medical Advisor - Vertex Pharmaceuticals, Sweden (Field-based)

Previously listed:

• Genetic Counselor - Al Borg Diagnostics, Riyadh, Saudi Arabia

• Reproductive Center Genetics Counselor, Emory Healthcare - Atlanta, USA

• Genetic Counsellor (60-100%), Mediclinic Group - Zurich, Switzerland

Looking to fill a position on your team? Or have internship opportunities at your work? Share your job here

The SNPPET Events and Calendar

🎯 Our New Focus: Bringing You Together

We have launched two regular live events designed to connect our global GC community: 🌍

1.🔗🤝 SNPPET's GC Speed Connect - Monthly Networking 

Seven-minute 1-on-1 meetings with five fellow GCs – your very own seven minutes in heaven!! 

✨ This monthly event happens the first Thursday of each month (first-come-first-serve). So block your calendars and wait for our monthly registrations to open! (Or subscribe to our SNPPET Calendar)

📅 Next session: November 6 at 11AM EST / 4PM BST / 5PM CET / 8:30PM IST - Register now while there are still spots left!!!

2. 🚀 The SNPPET Innovation Exchange - Quarterly Showcase 

🌟 Mark your calendars for the next Innovation Exchange on October 21st!! 🌟

SPEAKERS and TOPICS:

• Ana Morales: Implementation science for genetic counselors

• Kelly Tangney: All of Us Research Program return of clinical-grade DNA results to participants

‼️ Link to register to attend the October Innovation Exchange is here!

Share your wins, research, and projects with the community!
Each 60-minute session features 3-4 presenters giving 8-minute highlights of their work, followed by networking.

🤝 📅 Quarterly: 3rd Tuesday in Jan/Apr/Jul/Oct at 11AM EST / 4PM BST / 5PM CET  📅 Next event: Oct 21, 2025 . Interested in presenting? Fill out this form 📝

Sign up to The SNPPET Event Calendar 📅

Never miss newsletter deadlines, networking events, webinars, or conference opportunities! 🗓️ Add our new community calendar to stay connected: Click to access and add to your calendar

🗓️ Important dates, deadlines and reminders 

Happening this month!!

• Annual IcoNS (The International Consortium on Newborn Sequencing) Conference 2025, London: Oct 23-24 2025

Coming up soon!!

• British Society for Genetic Medicine (BSGM) Annual Conference, London: Nov 5th 2025

• National Society of Genetic Counselors (NSGC), Annual Conference, Seattle: Nov 6-10 2025

  • Registration now open, early bird deadline: Sept 18 2025

• Association of Genetic Nurses and Counsellors GC Awareness Day: Nov 13 2025, London, UK

  • Get your free ticket here

💻️  Educational courses, podcasts, webinars

Blueprint Genetics: Empowering Precision Medicine: The power of WES and mitochondrial DNA analysis.

• Oct 23 at 5:00 PM CEST. Register HERE.
  

ERN GENTURIS: the European Reference Network for all patients with one of the rare genetic tumour risk syndromes are hosting the following talks:

• November 12, 2025 at 16:00-17:00 CET: Hereditary childhood cancer
  Register HERE.

GeneDx: Long-read sequencing explained: Foundation, evolution, and clinical impact

• Nov 19 at 12pm EDT. CEUs available
  Register HERE.