Book release: “Genomics of Rare Diseases. Understanding Disease Genetics Using Genomic Approaches”
“Genomics of Rare Diseases” offers readers a broad understanding of current knowledge on rare diseases from a genomics perspective.
Read more
Rare Diseases
Hispanic Heritage Spotlight: Interview with Dr. Juan Botas
Dr. Juan Botas shared his challenging beginnings, his passion for neuroscience and how he is bringing science to a general audience.
Read more
Patient-inspired research connects sugar metabolism and peroxisomes
Peroxisomal biogenesis disorder is a condition that has been linked only to lipid metabolism. This line of thought has now changed as new research has
Read more
Collaboration matters when looking for answers to undiagnosed diseases
It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to
Read more
Supporting those with rare diseases
In the United States, a disease is considered rare if it affects less than 200,000 Americans. With almost 7,000 diseases classified as rare, the National Institutes
Read more
Coping through connection: Rare disease support communities
Ben Munoz, a first-year medical student at Baylor College of Medicine, isn’t a typical student. His experiences led him to create an online support group,
Read more