rare disease Archives - Baylor College of Medicine Blog Network

The story behind the discovery that led to the novel treatment revealed that scientific breakthroughs can sometimes happen in unexpected ways.

Momentum

Coping through virtual connection: rare disease support communities

April 6, 2022 rare disease, support group

Former Baylor student turned entrepreneur Ben Munoz was inspired by his experiences with online support groups to form Ben’s Friends.

From The Labs

Expanding the diagnosis for Xia-Gibbs Syndrome

September 7, 2021 diagnosis, missense mutations, rare disease, Research, Xia-Gibbs syndrome

Researchers at Baylor College of Medicine have validated a new type of genetic mutation that causes Xia-Gibbs Syndrome, a rare genetic disorder.

From The Labs

Solving the puzzle of Mitchell disease

April 7, 2020 ACOX1, glia, lipids, Mitchell disease, Neurodegeneration, rare disease, Research

When a patient with puzzling neurological symptoms enrolled in the Undiagnosed Diseases Network, researchers led by Dr. Hugo J. Bellen were set on solving the

From The Labs

Image of the Month: Nervous tissue of the fruit fly embryo

January 7, 2020 fruit fly, IQSEC1, neurodegenerative disorders, rare disease, Research, schizo

The fruit fly is a valuable animal model to unravel the genetic causes of both rare and more common human diseases. This Image of the

From The Labs

To better serve patients, Baylor researchers pioneer and improve reanalysis of clinical molecular data

June 20, 2019 Baylor Genetics, molecular diagnosis, rare disease, Research, undiagnosed diseases

Many physicians and scientists think that the molecular diagnostic rate of undiagnosed diseases has room for improvement. Inspired by this need, a team at Baylor

From The Labs

Image of the Month: Art meets science to visualize the fruit fly’s brain

April 2, 2019 ALS, autophagy, fruit fly, Lou Gehrig's disease, lysosomes, proteasome, rare disease, reseach, ubiquilin

Studying the brain of the fruit fly helps understand the human brain, both in health and disease. Working in the lab of