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  • 🧬 The SNPPET #4: gene therapy successes, failures, sequencing tech drama and more this edition...

🧬 The SNPPET #4: gene therapy successes, failures, sequencing tech drama and more this edition...

A newsletter for the genetic counsellor community. Keeping you in the loop on the latest news in genetics, upcoming events & job openings

Author

Alekhya Narravula
May 16, 2024

👋 Hi Genetic Counsel(l)ors & friends 

☀️ ☀️ Summer is here! Well.. almost! ☀️☀️
Starting this month, the newsletter will be published at the middle of the month rather than at the beginning.

Thank you to those who responded regarding a meetup at ESHG, you will receive a separate email.
Since most of you won’t be attending ESHG, it’s time for the next EU GC Networking Event (non-EU friends are also welcome to join) on Jun 25th 2024 5pm Central European Time. More details will follow.

So many exciting things have happened the last weeks that I had to try hard to keep this short.

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This issue:

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News Highlights 🌟 

💊🧬 Let us start with some good news! A successful gene therapy (the CHORD trial) for auditory neuropathy caused by variants in the OTOF gene has been reported in the UK. 👂

💊🧬On the flip side, a patient died in Phase 2 of Pfizer’s trial for Duchenne Muscular Dystrophy (DAYLIGHT Study) resulting in a pause in the phase 3 trial CIFFREO

💊🧬In other sad therapy-related news for patients and patient advocates, Sanofi has decided to discontinue the AMETHIST phase 3 study for venglustat in patients with GM1 gangliosidosis.

💊💻 In other therapy news, the FDA has qualified the Apple AFib feature as the first digital biomarker for use in clinical trials.

🧬🕵️ For those of you unaware of the amazing work done by the NIH’s Undiagnosed Diseases Network (UDN) in the US, this article is a great read. They have helped uncover the cause of many ultra-rare genetic diseases.
Solve-RD plays a similar role within the EU and is funded by the European Commission.

📃 A practice resource for genetic counseling for dystrophinopathies was published by the National Society of Genetic Counselors.

📅 The AGNC Meeting 2024 will be held on 17th - 18th June 2024 at the Centre for Student Life, Park Place, Cardiff, UK.

😂 Finally wanted to share this little diss at 23andMe by Morningbrew.
Kinda how most of the genetic testing/biotech industry is feeling right now:

🧬👊 Illumina embroiled in its GRAIL divestment request by the EU and having overpromised on the clinical utility of GALLERI, it’s non-invasive cancer screening;

PacBio and Oxford Nanopore Technologies stocks sinking lower and lower as Illumina launched its long read technology;

An era of 250$ tests coming to an end with INVITAE being broken down and sold for parts with Labcorp acquiring the core last piece.

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

💼 Job opportunities in UK and EU

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

🗓️ Important dates, deadlines and reminders 

Upcoming Conferences and meeting:

📚️ 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!

We are doing something a little different this month. I wanted to bring attention to this illustrated book written for siblings of children with the rare disease Koolen-de Vries syndrome.
McKenzie Bell is a genetic counselor based in Utah and wrote this book as her Master’s capstone project.

The virtual book can be read for free at the link below and a paperback copy can be purchased on Amazon here

Book Recommendation for May 2024:
📕 Book Review for April 2024:

 Medical Apartheid
Fair warning - This is going to be a hard book to read.

📚 Did this book trigger you? Quite a bit of what we know about medicine and medical safety comes from the systemic racism, exploitation and discrimination practiced in healthcare. To this day there are disparities in healthcare provision and the communities devastated by the exploitation and experimentation still face discrimination and poorer health outcomes. How does one reckon with this and strive for a more equitable and just healthcare system? Some food for thought.

 🤖🧠 AI tool/prompt of the month 📆 

ChatGPT? Mistral? Gemini? Bard? Llama? GPTAgents? HuggingFace?
Have you been keeping up with the AI revolution???? Because…….
“AI is not going to replace you but someone using AI just might” 😰

This month we feature two AI tools that can help you with all your Excel and Google Sheet analyses. Analysing your data can now be a breeze and you don’t need to search constantly for the correct, complex formulas

Please note: DO NOT USE PATIENT INFORMATION OR CONFIDENTIAL INFORMATION IN ANY PUBLIC AI TOOL!

💡 Are you using AI tools to make your life easier in your day-to-day tasks? Share your tools here so we can bring them to the community

💻️  Upcoming educational webinars in April 2024

There were some great webinars and podcastsin April and can be watched on-demand. So posting those links below.

On-demand:

Upcoming:

Date & Time: May 23rd 14:00 - 15:30 UK time 

Date & Time: May 28th 18:00 - 19:00 CEST 

Know of an interesting webinar, conference or upcoming event? Let us know 

Did I miss something important from your region? Perhaps a new set of guidelines or a landmark publication? Let me know here

That is all for this edition ! 💙
If you enjoyed reading the SNPPET, forward this email to your friends & colleagues or invite them to subscribe 😎

See you in a month,

Alekhya 💙

For those of you who don’t know me—

👋 Hi, I'm Alekhya! 🧬 I'm an ABGC certified and EBMG registered genetic counselor. My favorite word is "Why?" 🤔 and I love meeting new people, hearing their stories, connecting people, learning new things, getting others excited about said things 🤩, and sharing my knowledge 💡. I created this newsletter to share interesting things with you, to stay connected to fellow GCs and genetic professionals and to build a community together. 🌐

A bit more about me - I started in India 🇮🇳 and after a stint in the UK 🇬🇧 and USA 🇺🇸 ended up in Berlin 🇩🇪. I worked for several major diagnostics labs in varied roles supporting their physicians and patients around the world which helped me expand my world from just genomics to digital health 📲, AI 🤖, product development, marketing & sales strategies, healthcare systems, etc. In 2023, I founded GeneLinx, 🧬 to help scale and mainstream genetic counseling. I am a board member of the EBMG genetic counselor branch and also host the EU GC networking event and the Global GC networking event.

Always open to exchanging ideas 💡 and happy to meet GCs from around the world. Feel free to write to me anytime at [email protected] or by replying to this email. 📧



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