Next Generation Genetic Counselling

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.

26/11/2025

Genetic testing is a critical part of pancreatic cancer care. 1 in 10 patients carry inherited mutations that may influence treatment decisions and help identify at-risk family members. If you or someone you know has pancreatic cancer, genetic testing should be part of the conversation.

26/11/2025

Genetic testing offers new answers for families affected by cerebral palsy. In this new Perspectives piece, Bobbi McGivern, MS, CGC from GeneDX, explains how exome and genome sequencing can uncover underlying genetic conditions, guide care and support clearer pathways for families at any age.

Read how expanding the use of comprehensive testing is reshaping our understanding of CP and helping clinicians provide more targeted support in our comments!

08/11/2025

In the newest series, a genetic counselor’s careful review and use of RNA sequencing revealed a likely pathogenic NF1 variant and enabled appropriate family care. Learn more about this case (https://hubs.li/Q03Q-fLp0) and submit your own feature for this series to info@mygenecounsel.com

30/10/2025

25/10/2025

Preimplantation genetic screening for aneuploidies (PGT-A) screens embryos created through IVF to check for extra or missing chromosomes which is a common cause of failed implantation or miscarriage.

Watch our new PGT-A information video using the link in our bio

25/10/2025

We are so excited that Love, Danielle is officially available to stream on multiple platforms! This deeply personal film shows what it’s like living with a BRCA gene mutation, making tough choices, and dealing with family dynamics along the way.