Rare disease

Revolutionary EpiSign Technology Transforms Diagnosis of Rare Diseases with Blood Test

Researchers at the London Health Sciences Centre and Lawson Health Research Institute have introduced EpiSign, a groundbreaking blood test utilizing artificial intelligence to diagnose over 100 rare diseases and birth disorders. This innovative technology analyzes a patient’s epigenome, offering hope for accurate diagnosis and early intervention in complex conditions like recurrent constellation of embryonic malformations (RCEMs). EpiSign represents a significant advancement in medical diagnostics, paving the way for improved patient care and personalized treatment strategies.

Woman’s Rare Allergies Leave Her Malnourished and Able to Eat Only Four Foods

A woman’s rare and extensive allergies left her malnourished and able to only eat four types of food, leading healthcare professionals to struggle to find a solution. After years of suffering, she was finally diagnosed with mast cell activation syndrome, Crohn’s disease, and Ehlers-Danlos syndrome.

New Case Study Sheds Light on Rare Condition Causing Distorted Face Perception

Learn about the rare condition prosopometamorphopsia (PMO) and its unique manifestation in a recent case study. Unlike prosopagnosia, PMO causes individuals to perceive faces as distorted, sometimes appearing demonic. Discover the causes and impact of this exceptionally rare condition.

Rare Genetic Disorder Causing Extra Fingers and Toes Identified in New Research

A rare disorder causing babies to be born with extra fingers and toes and a range of birth defects has been identified in new research co-led by the University of Leeds. This disorder, caused by a genetic mutation in a…