🧬 The SNPPET

👋 Hi Genetic Counsel(l)ors & friends 

I am excited to share the first edition of the SNPPET - a monthly newsletter to stay connected with you all year round. This is the January edition hitting your inbox a couple of days late! 😁 

I hope you enjoy this newsletter and I would love to hear your ideas, thoughts and feedback. 💡 

Could you also do me a favour and please reply “Yes” to this newsletter so that this email does not end up in your spam in the future? ✅ 

You are receiving this email as you had consented to being contacted while signing up for one of the EU GC Networking events. If you are no longer interested, please feel free to unsubscribe using the 🔗 in the footer.

January 2024 - Highlights 🌟 

📢 The American Society of Clinical Oncology issued updated recommendations for germline genetic testing for breast cancer. The most important one being - testing should be offered to all women with breast cancer <65 years of age. See article for all the recommendations.

🧬 A new genetic cause for inherited kidney disease was recently reported. Causative variants were identified in multiple families with undiagnosed renal disease, in the APOA4 gene that is involved in lipid transport.

💊 A novel gene therapy for children born with hearing loss due to mutations in the OTOF gene has shown to be successful in clinical trials in China. A trial for this therapy has also been announced in France for babies between the ages of 12-31 months.

🗣️ The conference season kicked off this year with the annual Festival of Genomics event on the 24th & 25th January 2024 in London, UK. If you attended the event and have any interesting feedback you would like to share in the next newsletter, please reach out.

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

💼 Job opportunities in UK and EU

• Prenatal Genetic Counsellor - London, UK

• Subject Matter Expert (Technical Specialist/ Field Scientist) - UK

• Associate Director, Medical Science Liaison - London, UK

• Conseiller en génétique, Oncologie - Strasbourg, France

• Genetic Counsellor Basic Grade - Dublin, Ireland

• Cancer Genetic Counsellor - London, UK

• Genetic Counsellor - Manchester, UK

• Cardiac Genetic Counsellor - Oxford, UK

• Senior / Project Manager - Rare Diseases - Home-based, EU

Looking to fill a position on your team? Share your job posting here

📚️ Book Club: Let’s read together each month 📆 

I review a book each month and suggest one for the next one. Be my reading buddy!

Book Review for Jan 2024:

The Violinist's Thumb: And Other Lost Tales of Love, War, and Genius, as Written by Our Genetic Code

This book seamlessly combines science, history and storytelling in true Sam Kean-style. If you are a fan of hearing the real-life stories that provide context to the 'why' behind the science, then you will love this book! In the same vein as “The Gene”, this is an engaging read regardless of whether you are knowledgeable about genetics or not.

Check out Kean’s other books too. “The Disappearing Spoon” regarding the periodic table is another favorite of mine!

📕 Book recommendation for Feb 2024:

Read the book “Eve” with me this month and let me know what you think!

 Eve: How the Female Body Drove 200 Million Years of Human Evolution

Stay tuned for a mini-course on “Preimplantation Genetic Testing” in the next edition!

Have 💡 ideas for a short course or talk and want to be featured in the newsletter? Share them here

💻️  Upcoming educational webinars in Feb 2024

🧪 Overcoming the Limitations of NGS in Pediatric Genomic and Precision Medicine 

Date & Time: Feb 14th 17:00 - 18:00 CET

This talk will discuss recent advances in the application of technologies such as optical mapping and transcriptomics which offer improved sensitivity for detecting and characterizing genetic disorders.

👩‍⚕️ ERN GENTURIS Webinar: Familial malignant melanoma - the dermatologist's perspective 

Date & Time: Feb 28th 16:00 - 17:00 CET

This webinar from the European Reference Network (ERN) will discuss the genetic basis of melanoma susceptibility, the role of ultraviolet radiation exposure in melanoma development and the methods for accurate skin examination currently applied by dermatologists.