Rare Diseases Archives - Baylor College of Medicine Blog Network

“Genomics of Rare Diseases” offers readers a broad understanding of current knowledge on rare diseases from a genomics perspective.

From The Labs

Hispanic Heritage Spotlight: Interview with Dr. Juan Botas

October 29, 2020November 8, 2020Alzheimer's, Espana, Hispanic Heritage, Huntington’s, neurodegenerative diseases, Parkinson's, Rare Diseases, Research

Dr. Juan Botas shared his challenging beginnings, his passion for neuroscience and how he is bringing science to a general audience.

From The Labs

Patient-inspired research connects sugar metabolism and peroxisomes

September 28, 2017lipid metabolism, peroxisomal biogenesis, Peroxisomal disease, peroxisomes, PEX genes, Rare Diseases, sugar metabolism, Zellweger disease

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

From The Labs

Collaboration matters when looking for answers to undiagnosed diseases

February 10, 2017data sharing, de novo mutation, developmental delay, Human genetics, NACC1, Rare Diseases, undiagnosed diseases, whole exome sequencing

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

Momentum

Supporting those with rare diseases

February 26, 2016October 7, 2016Community, Dr. Brendan Lee, Events, Genetics, Healthcare, Houston, molecular and human genetics, pediatrics, Rare Disease Day, Rare Diseases, Texas Children's Hospital, The Health Museum

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

Momentum

Coping through connection: Rare disease support communities

April 15, 2013October 7, 2016Baylor College of Medicine, BCM, Community, Jordan Magaziner, Rare Diseases, Strokes, Student Life, Students

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,

Rare Diseases

Undiagnosed Diseases Center to address rare genetic cases

Book release: “Genomics of Rare Diseases. Understanding Disease Genetics Using Genomic Approaches”

Hispanic Heritage Spotlight: Interview with Dr. Juan Botas

Patient-inspired research connects sugar metabolism and peroxisomes

Supporting those with rare diseases

Coping through connection: Rare disease support communities