Rare Diseases - May 21, 2023 - Same genetic defects shared by some patients with motor neuron disease and frontotemporal dementia

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	Rare Diseases
	The latest rare diseases news from News Medical

	Same genetic defects shared by some patients with motor neuron disease and frontotemporal dementia 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.

	Pioneering AI-based approach identifies rare disease patients using electronic health records 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.

			Humanized mouse model for rare genetic disease developed for the first time Mice with a defected human gene responsible for a rare genetic disease, called congenital adrenal hyperplasia, have been developed for the first time.

			AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans 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 receives grant from the Chan Zuckerberg Initiative to accelerate research for rare neurological disorders 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.

	Patients with motor neuron sisease and frontotemporal dementia carry the same genetic defects 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.

	First humanized mouse model for congenital adrenal hyperplasia developed 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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