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🧬 The SNPPET - February '24 Roundup

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
March 03, 2024

👋 Hi Genetic Counsel(l)ors & friends 

Thank you all for your support, comments and feedback on the first edition! 😁
We are now at almost 350 subscribers!!! 🎉 🥳 

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We are back this month with more news, events and information 💡 and a new section on AI 🤖😉 

So let’s get right into it!!

In case you are no longer interested, please feel free to unsubscribe using the 🔗 in the footer below

February 2024 - Highlights 🌟 

📢 A pre-print from the UAE shows the benefits of premarital screening for Spinal Muscular Atrophy and how it can both reduce cases and save up to $324 million in treatment costs.

🧬 RD-CODE released their recommendations for coding undiagnosed rare diseases in Healthcare Information Systems (HIS) in EU using ORPHAcode, enabling the counting of undiagnosed rare disease patients, ensuring accurate epidemiological data and facilitating positive impact on their diagnostic journey. 🤞for true digitization and interoperability of data!

💊 Two new gene therapies were approved by The European Medicines Agency (EMA)! Tofersen (Qalsody) for adults with Amyolateral Sclerosis (ALS) and danicopan (Voydeya) for treating residual hemolytic anemia in patients with paroxysmal nocturnal hemoglobinuria (PNH).

🌟Bonus: With so many gene therapies being approved, it is hard to keep up. This article discusses 10 gene therapy companies and the drugs they have in the pipeline and take a look at this overview of the gene therapy landscape. It is insane!! 🤯

🔬 That X-tra X (chromosome) could be why 80% of autoimmune diseases are reported in women! 🤷‍♀️The process of X-inactivation might hold clues for this sex bias in autoimmunity according to this study in transgenic mice.

🇪🇺For an an overview of GC education in the EU, checkout the paper “Thirty-year of genetic counselling education in Europe: a growing professional area” in the European Journal of Human Genetics. (A shameless self-plug here 🙃)

🎬 At the Berlinale film festival earlier this month, I unexpectedly watched “A Different Man”. The protagonist has Neurofibromatosis (even though they don’t describe the disease) and difficult themes surrounding disability, identity and self-perception vs. the perception of society are tackled. Highly recommend!

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 

DNA Day essay and video contest: 
For the 15th year, the European Society of Human Genetics (ESHG), will be sponsoring a DNA Day Essay and Video contest in high schools all over the world. So share with your kids and any high schoolers you know.
Deadline for submissions: April 25th 2024

Upcoming Conferences:

📚️ 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 recommendation for March 2024:

I am reading “The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them” in March.
I am really excited for this one even though I am probably not the target audience ! 🤓 [As you can tell I like my pop-science books].

Book Review from Feb 2024:

📚 I thoroughly enjoyed this book! The female heroine representing evolution in every mammalian era was a unique touch in the storytelling. Initially, I listened to it as an audiobook 🎧, but listening didn't quite capture the essence of it, so I went back and read it. The book made me revisit my embryology lectures from GC school and think about organ development and evolution from a different perspective 👀.

💡 Many of the issues discussed, especially regarding female exclusion in medicine 🩺 and research, struck a chord with me. It reminded me of "Invisible Women: Data Bias in a World Designed for Men" by Caroline Criado, which offers insightful perspectives on the topic. Definitely worth checking out! 🌟

 🤖🧠 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” 😰

So time to get with the program! I will feature 2-3 AI tools or prompts that you can use to make your life easier so you can have a free assistant at your beck and call 😁 

1️⃣ Scite.ai: 🧑‍🔬 Your friend for literature search and citations and helping you stay organised whether you are writing your thesis or a publication or doing a literature review. There is a free version that is pretty darn good.

2️⃣ tinywow.com: A website that will wow you and help you do a looot of things from pdf editing to image generation to blog and article writing. Just check it out and you will go 😮

3️⃣ chatpdf.com: Upload any pdf including research papers and start asking questions. Like ChatGPT but for the specific pdf. 

Now go to town! ! 😇

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
Mini-talks and short courses are coming soon!
The first one will be a series on Pre-implantation Genetic Diagnostics

If you have 💡 ideas for a short course or talk and want to be featured in the newsletter, share them here

💻️  Upcoming educational webinars in March 2024

There are some great webinars this month organized by GenomeWeb. . So feel free to take a look here. A few are highlighted below:

Date & Time: March 19th 19:00 - 20:00 CET 

Date & Time: March 22nd 20:00 - 21:00 CET  

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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