Next Generation Genetic Counselling

14/04/2026

12/04/2026

Joy can take on new meaning after a genetic diagnosis. Families often shift how they see their daily lives and begin to find value in moments that once felt small.

A new study in the Journal of Genetic Counseling shares how families focus on the present and reshape what joy looks like over time as they navigate genetic diagnoses.

Read more via the link in the comments.

06/04/2026

April 5th is Barth Syndrome Awareness Day - a time to shine a light on a rare genetic condition that affects the heart, muscles, and immune system. Barth Syndrome may be a little known, but for those living with it, the challenges are very real. Raising Awareness helps drive research, early diagnosis, and support for families who need it most.
Every voice matters. By learning, sharing, and advocating, we can help create a future where rare diseases like this are better understood and treated.

04/04/2026

Rankings from U.S. News & World Report highlight five under-the-radar jobs with strong salaries, steady growth and long-term demand

04/04/2026

Given 10 years to live… he conquered the Absa Cape Epic.
Now Jason van’t Slot is chasing the World Championships 🇿🇦

This isn’t a mere cycling story — it’s a story about resilience and overcoming

🎥 Watch Jason's journey unfold. You don’t want to miss this!
https://youtu.be/kC6ZYSunqtw?si=Kutdy-h6LRMVLSdS

02/04/2026

02/04/2026

02/04/2026

Even well-researched genetic disorders like can surprise us with how they present.

One man’s lifelong symptoms finally fit together with a diagnosis of atypical CF, revealed through expert genetic counseling and testing. Read the full story here: https://hubs.li/Q048Mkr30

02/04/2026

13/03/2026

💛 A Story of Strength, Resilience, and Hope 💛

We’re honored to share a powerful video from the Liver Foundation featuring Jasper and his dad, Peter, as they open up about their journey with Alagille Syndrome.

From Jasper’s diagnosis in early childhood to growing up with chronic liver disease and facing the possibility of a liver transplant, their story offers an honest and heartfelt look at living with ALGS.

Stories like Jasper’s remind us why community, awareness, and advocacy matter so deeply. 💛

We invite you to watch and share:
🎥 https://zurl.co/MSjmj

Thank you to the Liver Foundation for helping shine a light on the ALGS journey.

13/03/2026

Sleep in PWS is not simply about feeling tired.

Excessive daytime sleepiness and disrupted sleep patterns may significantly impact behavior, emotional regulation, and mental health.

In our latest Understanding PWS article, we break down what the science shows, and what it means for families 💙

Read more: https://hubs.la/Q044wRWP0

10/03/2026

When Kellie was pregnant, she already knew her baby might inherit Long QT Syndrome (LQTS) - it runs through generations of her family. So when her daughter was born, doctors didn’t wait. Based on family history and early ECGs, they started her on a beta blocker right away - before genetic results even came back.

Weeks later, the test confirmed it: she has Long QT Type 2, just like her mom.

Starting treatment from day one gave Kellie something priceless - peace of mind.

Today, her daughter is thriving. Growing. Babbling. Playing. You’d never know she has a serious heart condition. Taking medication isn’t a sign she’s “sick.” It’s simply part of protecting her heart.

Read more at https://sads.org/blog-cat/why-im-at-peace-with-giving-a-beta-blocker-to-my-baby/.

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