A new artificial intelligence model, popEVE, could accelerate diagnoses for rare, single-variant genetic diseases by scoring how likely each genetic change in a patient’s genome is to cause disease. Developed…
On September 3, 2025, the US Food and Drug Administration (FDA) introduced the Rare Disease Evidence Principles (RDEP) process, a groundbreaking step for drug development targeting ultra-rare genetic diseases. According…
In 2023, Marley Mansour of Rowlett, Texas and her family were told that Marley had an extremely rare genetic condition called NARS1 disorder. Now, Marley is the world’s first person…
In the rare disease community, fundraising plays a pivotal role in driving forward research and treatment initiatives, offering vital support to affected families, and guaranteeing access to necessary resources and…
By Jodee Redmond from In the Cloud Copy Thermo Fisher Scientific, a world leader in the life sciences community, has announced that it has developed a new test for Gaucher…
This is NSGC 2019 Conference Highlights Part 2, click here for part 1. An early morning session on the final day of the conference featured a personal story shared by…
According to a publication from the Korea Times, the Eone Diagnomics Genome Center in Incheon, South Korea, is working to improve patients' accessibility to their own genetic sequence. Researchers believe…
To walk in the shoes of others is sometimes what it takes to truly understand their journey. So when I came across the blog, Jason and Justin's Journey x2 - Don't Stop…
In the past, a diagnosis of Huntington's disease offered the patient absolutely no hope. It was understood that a downward trajectory was the only way the disease would play out,…
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