Welcome to the Probably Genetic Blog!
Answers for all of your most pressing questions on genetics, rare conditions, drug development, and research.
Articles in "Rare Disease"
All About SYNGAP1-related Disorders
December 6, 2022
Written By:
Cheyanne Perry Suarez
SYNGAP1-related disorders describe a group of disorders caused by pathogenic mutations in the SYNGAP1 gene.
Read More...
All About WHIM Syndrome
December 10, 2021
Written By:
Cheyanne Perry Suarez
WHIM syndrome is an acronym that describes the distinctive characteristics of the condition: Warts, Hypogammaglobulinemia, Infection, and Myelokathexis.
Read More...
What It’s Like to Be an Undiagnosed Rare Disease Patient
November 22, 2021
Written By:
Cheyanne Perry Suarez
Rare disease patients seek solace in social media connections.
Read More...