🧬 The SNPPET #12: Bad month for Sarepta, gene therapy and the DMD community; 3-parent babies; Success with aneuploid embryos; AI in genetic counseling and more....

 👋 Hi Genetic Counsel(l)ors & friends 

🌟GC Spotlight

📺🧬 Content creator and genetic counsellor, Dena Goldberg, is focusing on her Youtube channel and would like your help in increasing the visibility of her educational content. Check out her post to learn more and support her work! 💪✨

💼 Participate in / Share Research

No submissions this month

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 and Industry-related 🌟 

🧬 🇮🇹🏥 In Puglia, Italy, newborn genomic screening is now available, free of charge to all babies at birth as an integral part of its healthcare system!

 🇬🇧 UK's 6+ year refusal to screen for SMA called "a serious mistake" after their own model confirms universal newborn screening is clinically effective and cost-saving. 📊 UK NSC's model shows screening would annually prevent 2.9 deaths, prevent 34.8 children from becoming wheelchair-dependent, and save NHS £5.7 million. 💰

Despite evidence, UK NSC still won't recommend universal screening - instead planning an "in-service evaluation" leaving many newborns unscreened as controls. The delays have led to ~19 preventable deaths and ~230 children permanently wheelchair-dependent. Read UK NSC's blog and Thomas Minten’s post breaking down the information 😔💔✨ 

😯 UK reports 8 healthy babies born using DNA from three people - biological parents plus a donor providing healthy mitochondrial DNA. Mothers carried mitochondrial disease genes that risked passing on severe disorders. All babies are healthy! 👶🧬✨✨

🧬 DeciBio surveyed 100 oncologists on their genomics testing practices: Andrew Aijian breaks down the results in his post which shows how fragmented the oncology diagnostics space is

💊🧬🚨 FDA is investigating an 8-year-old's death from Elevidys gene therapy (June 7) plus 51-year-old's liver failure in a related trial. The FDA requested shipment halt, Sarepta initially refused but later complied with voluntary suspension. 💔⚖️

What's next: Sarepta faces potential market withdrawal, $1B debt crisis, and 40% workforce cuts. Duchenne community divided on access vs. safety. Analysis of implications 📉🧬

Publications and Guidelines 🌟 

⭐Highlighting two AAP guideline updates this month:

1. Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18

2. Health Supervision for Children With 22q11.2 Deletion Syndrome

🧬Another interesting update to how we understand repeat conditions - this article focuses on Myotonic Dystrophy type 1!

👪 With all the talk about newborn screening, how does this affect other family members and their potential to be at risk for a genetic condition? Check out this article to learn about reverse cascade testing!

🧑‍💻Have you been considering how AI can play a larger role in genetic counseling? So has a team of GCs who recently published an article highlighting the potential benefits, such as reducing provider burden and expanding access, and important ethical considerations.

 🤯 Stanford’s CRISPR‑GPT, an advanced AI/LLM-based system integrated with biological tools and databases, enables novices to perform real-world multigene knockouts and epigenetic edits with >80% efficiency—bridging complexity and accessibility in gene editing.

‼️More on IVF and related to our Innovation Exchange discussion - Check out this case study describing a healthy euploid dizygotic twin birth after transfer of non-mosaic ANEUPLOID embryos.

📋 The Australian privacy regulator (OAIC) updated guidance in May 2025 to clarify that clinicians may, with patient consent, collect and use relatives’ contact details to inform them of genetic risks—without breaching privacy law—helping facilitate life‑saving cascade genetic testing.

🧬 In one of the largest studies of its kind, researchers analyzed exomes from 44,000+ British Pakistani and Bangladeshi volunteers linked to lifelong NHS records. The study identified natural gene knockouts, uncovered new gene–disease links, and evaluated drug targets—advancing precision medicine for underserved communities. 🇬🇧🧑🏽‍⚕️

Professional Issues and Training 🌟 

 💬 Bookmark this! New guide offers practical phrases and strategies to help parents navigate conversations with siblings of children who have disabilities or complex medical conditions. Great resource for family counseling sessions! 💜👨‍👩‍👧‍👦✨

Want to be featured in the SNPPET? Share your events, publication, ideas, job postings

💼 Job Opportunities

• Genetic Counselor - Riyadh, Saudi Arabia

• Genetic Counselor- Vitrolife Group - Dubai, UAE

• Venture Scientist / Founder: global venture creation PhD program (funded scholarship), Deep Science Ventures - Remote

• Scientific Project Manager (Research Grants & Client Projects), WhiteLab Genomics (Station F) - Paris, France

• Genetic Counselor, University Hospital Brussels - Brussels

• Scientist, Molecular Genetics, Blueprint Genetics - Helsinki, Finland

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

• Genetics Counsellor, Beaumont Hospital - Dublin, Ireland

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

• Citogenetista Clínico/a, Nuuma Genetics

• Genetic Counselor, SEHA Sh. Tahnoon Bin Mohammed Medical City - Al Ain, United Arab Emirates

• Principal Genetic Counsellor, Moorfields Eye Hospital - London, UK

• Genetic Counsellor and PGT Lead, The Centre for Reproductive and Genetic Health (CRGH) - London, UK

• Genetic Counselor, Lifera Omics - Saudi Arabia

  • Seeking full-time counselors who are fluent in Arabic

  • Contact: Layan Badawi, People Attraction Sr. Specialist ([email protected]) or Dr. Khadijah Bakur, consultant genetic counselor ([email protected])

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: Sept 4 at 11AM EST / 4PM BST / 5PM CET / 8:30PM IST - Register  ONLY 6 SPOTS every month so act fast!!!

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 

Upcoming Conferences and meetings:

• THE FIX, Oxford countryside: Sept 18 2025

• 2025 CTGCA Annual Educational Conference - Registration now open! 

  • Friday, September 26, 2025 | The Jackson Laboratory for Genomic Medicine (Farmington, CT) | Submitted for approval of 0.725 NSGC Category 1 CEUs (7.25 contact hours)  

• American Society of Human Genetics, Annual Conference, Boston: Oct 14-18 2025

• European Society of Molecular Oncology, Berlin: Oct 17-21, 2025

• International Conference on Human Genetics, Rome: Oct 16-17 2025

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

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

💻️  Educational courses, podcasts, webinars

• Topics covered: Discrimination in care; Donor selection; LGBTQIA+ inclusion; Cross-border treatment

• Details: 22–23 September 2025 | Barcelona | 6,0 European CME credits

• Register here