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Genomics is no longer the future of medicine—it is already here. Advances in next-generation sequencing (NGS) and bioinformatics have transformed how clinicians can diagnose and...
From rare pediatric diseases to inherited cancer syndromes, the secrets hidden in our DNA are guiding treatment, prevention, and family planning like never before. Here’s...
So, how is rare cancer different from regular cancer? And why should there be separate awareness? September 30th is annual Rare Cancer Day for awareness,...
“We Didn’t Know It Had a Name”: Recognizing Fragile X Syndrome in Real Life It often starts with subtle signs: a toddler who isn’t speaking...
From early recognition to genetic variants and the new international criteria Neurofibromatosis (NF) is the name for a group of related but distinct genetic disorders...
Dravet Syndrome: The Critical Importance of Early Diagnosis by Genome Sequencing & Variant Identification Over 80% of DS patients suffer from truncating and missense mutations...
