Next Generation Genetic Counselling

22/04/2026

19/04/2026

Sickle cell disease is a genetic blood disorder that changes the shape of red blood cells, making it harder for oxygen to reach the body’s tissues and organs. This can lead to painful episodes and serious health complications over time.
Because symptoms can begin in early childhood and vary widely from person to person, ongoing care and awareness are important. Learning about sickle cell disease helps support those living with it and highlights the importance of research, treatment advances and equitable access to care.

19/04/2026

A Mother Navigating the Same Rare Condition as Her Children 💛

In this powerful interview from My Hero 360, in partnership with the Cholestatic Liver Disease Summit, Dean Salmon and Stacey Carpenter-Salmon share their family’s journey with Alagille Syndrome (ALGS), and the unexpected discovery that changed everything.

After their son Alexander began experiencing unexplained neurological symptoms and strokes, genetic testing revealed the cause: Alagille Syndrome due to a JAG1 mutation. The diagnosis brought long-awaited answers… but also uncovered something surprising: Stacey also has ALGS, as does their younger son, Jude.

What makes their story especially impactful is how differently ALGS affects each of them:
🧠 Alexander has faced serious cerebrovascular complications
🩺 Stacey and Jude experience different heart and kidney manifestations

Their journey is a powerful reminder of what the ALGS community knows well:
no two people experience Alagille Syndrome the same way.

Dean and Stacey also speak candidly about the realities of rare disease life, including:
• Becoming your child’s strongest advocate
• Navigating uncertainty and complex medical decisions
• The importance of genetic testing and family history
• Finding support when the journey feels isolating

And perhaps most importantly, they share a message that resonates deeply:
✨ Focus on the people and moments that matter most.

Through connection with the Alagille Syndrome Alliance, their family found community, education, and support, and a reminder that they are not alone.

💛 Stories like theirs highlight why advocacy, research, and community are so essential in rare disease.

🎥 Watch the full interview:
https://zurl.co/LALjY

🔎 Learn more about the Cholestatic Liver Disease Summit:
https://zurl.co/6Ortu

Learn more about the Alagille Syndrome Alliance:
https://zurl.co/fDGgW

19/04/2026

Timing matters in genetic counseling for congenital heart disease. New research shows that families who received prenatal counseling were more likely to pursue postnatal genetic testing and received answers sooner.

These findings highlight the value of early access to genetic counseling and support a broader approach to testing in iCHD.

Read more in Journal of Genetic Counseling with the link in comments.

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