Next Generation Genetic Counselling

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

27/12/2025

Precious Matsoso is part of Nature’s 10, a list of people who shaped science in 2025.

27/12/2025

Immense progress in gene editing, drug discovery and conservation are just some of the reasons to be cheerful about 2025

06/12/2025

As a mother and as an advocate, I have first-hand experience of the current system and its barriers. When my child was diagnosed, I ran this gauntlet myself. Today I stand with families who face the same maze. I see how archaic the process is. I see how patient voices are pushed to the edges. I see....

06/12/2025

Eukaryotes from yeasts to mammals use mRNA operons to coordinate their heat shock response, indicating the RNA operon mechanism that regulates gene coexpression is conserved in evolution.

Learn more in : https://scim.ag/4iHNthG

06/12/2025

Carrier screening is no longer just about reproductive risk. New research shows some carriers during pregnancy may face their own health impacts. As testing expands, clearer guidance, counseling, and support are needed. Learn more from Lauren Tuttle, MS, LCGC https://perspectives.nsgc.org/Article/beyond-reproductive-risk-manifesting-carriers-in-the-genomic-era

02/12/2025

Meet Austin! He needed a dedicated cooling system for his new medication, which was vital for him to safely participate in his clinical trial at WashU. The NF Network played a crucial role in making this possible. You can learn more about Austin's journey here: https://www.nfnetwork.org/pages-news/transformative-support-austins-story/?lang=en

As Giving Tuesday approaches next week, we encourage you to consider supporting the NF Network. We rely on donations to sustain our operations so that we can be there for families like Austin's when they need us. Learn more about our annual appeal here: https://www.nfnetwork.org/fundraising/annual-appeal

01/12/2025

28/11/2025

A new review summarizes the genetics, diagnosis, and treatment of long QT syndrome, a major cause of sudden death in young people. Risk stratification and genotype-guided therapy are essential.