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rare diseases

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AI Model Identifies Potential Treatments for Thousands of Rare Diseases

A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way, according to researchers at the University of Adelaide.

Skin may hold key to neurodevelopmental disorder diagnosis

A young patient and her parents

Researchers Develop Potential Genetic Therapy to Reverse Giant Moles in Rare Skin Condition

Jiantao Guo (left), professor of chemistry, and Janos Zempleni, Willa Cather Professor of molecular nutrition, were selected as Phase 1 winners in the National Institutes of Health's Targeted Genome Editor Delivery Challenge.

Milk-based nanoparticles sidestep problem that plagues other gene editing tools

Orange- and purple-capped test tubes.

Using Machine Learning to Predict Rare Diseases

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