New research has discovered that some patients with motor neuron disease (MND) and frontotemporal dementia (FTD) carry the same rare genetic defects that cause other neurodegenerative diseases.
Research paper describes the use of Symptoma's AI-based approach to identify patients with Pompe disease from retrospective electronic health records. The study found a prevalence of one in every 18,427 people for Pompe disease in the greater Salzburg region and established phenotypes for patient cohorts with an onset of symptoms above or below 1 year of age.
Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies and they can even help them to establish an early diagnosis.
COMBINEDBrain's Founder and Director, Dr. Terry Jo Bichell, understands the power of collaboration. In her years as a neuroscientist, advocate, and rare patient parent, she has witnessed the field of neurodevelopment transform from a broad focus on autism or intellectual disability, to an era based on rare genetic disorders.
New research has discovered that some patients with motor neuron disease (MND) and frontotemporal dementia (FTD) carry the same rare genetic defects that cause other neurodegenerative diseases.
Mice with a defected human gene responsible for a rare genetic disease, called congenital adrenal hyperplasia, have been developed for the first time.
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