From lab bench to bedside – research in mice leads to answers for undiagnosed human neurodevelopmental conditions
The findings have provided answers to families that until now had no diagnosis for their child’s condition.
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developmental delay
AI accelerates the discovery of genes associated with neurodevelopmental disorders
The researchers hope that their models will also lead to patient diagnoses, and future studies will assess this possibility.
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From mouse model to human; serendipity leads to human genetic diagnosis
When Dr. Huda Zoghbi and her colleagues were investigating the role protein complex ATXN1-CIC plays in the normal development of the mouse brain they did not
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Collaboration matters when looking for answers to undiagnosed diseases
It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to
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