Next Generation Genetic Counselling

25/02/2026

What happens when patients seeking answers are turned away?

Alexa Barbagallo shares concerns about growing barriers to care for people with hypermobility and related connective tissue disorders. Access to answers can take years. For some, options are shrinking.

Read more in the comments.

10/02/2026

Full Paper: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16478

10/02/2026

Join us this Rare Diseases Month for an insightful webinar exploring Long Read Sequencing for Rare Disease Diagnosis in South Africa. Discover what experts have learnt so far and how this technology is shaping the future of genetic care.

26 February 2025
4:00 PM
cdadeb1a-3a8f-48f1-b210-086ce3539d65@10e67601-ecdf-449d-a299-d2bd927b43fc" rel="ugc" target="_blank">https://events.teams.microsoft.com/event/cdadeb1a-3a8f-48f1-b210-086ce3539d65@10e67601-ecdf-449d-a299-d2bd927b43fc

27/01/2026

👉 Read Hawken’s Encyclopedia Britannica entry and learn why early awareness matters.
https://ow.ly/ciTj50XVQv8

Duchenne doesn’t wait—but awareness often does. At Cure Duchenne, we’re working to change that by amplifying voices like Hawken Miller’s and advancing earlier recognition of Duchenne muscular dystrophy.

27/01/2026

We're honored to share Nick and Rene Kelly's story, detailing their experiences with their infant daughter who's living with cystic fibrosis. Read here:

https://patientworthy.com/2026/01/18/nick-and-renes-caregiver-story-for-their-daughter-with-cystic-fibrosis/

27/01/2026

📄New in the Journal of Genetic Counseling:

Meaning often becomes most important in moments of uncertainty, illness, and loss. A new paper highlights how logotherapy aligns naturally with genetic counseling by centering meaning, responsibility, and choice alongside science and disease.

Read more about logotherapeutic techniques in genetic counseling in the comments.

18/01/2026

Scientists are beginning to utilize HIV treatments as a way to treat rare genetic diseases, such as mitochondrial disease. Read more here:

https://patientworthy.com/2026/01/17/from-hiv-treatment-to-rare-genetic-disease-nucleoside-therapy-enters-a-new-era/

18/01/2026

10/01/2026

04/01/2026

Biochemist Kary Mullis, discovered the polymerase chain reaction (PCR) while driving a route well known to him at night.

His thoughts wandered, the pieces of a puzzle he had been thinking about fell into place and the rest is history.

Mullis was awarded the chemistry prize for his invention of the PCR method in which a small amount of DNA can be copied in large quantities over a short time.

By applying heat, the DNA molecule's two strands are separated and the DNA building blocks that have been added are bonded to each strand. With the help of the enzyme DNA polymerase, new DNA chains are formed and the process can then be repeated. PCR has been of major importance in both medical research and forensic science.

Read more about how Mullis discovered PCR: https://bit.ly/2F53qwS

04/01/2026

Many people don’t know about congenital adrenal hyperplasia (CAH). Raising awareness helps patients get the recognition, understanding, and support they deserve every day!

04/01/2026

Our series highlights JAMA’s 2025 Research of the Year selections, including a feature on newborn genome sequencing moving closer to clinical care through the GUARDIAN study. Read more here: https://hubs.ly/Q03YCgZ90