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Elizabeth Berry-Kravis studies rare neurogenetic and neurodevelopmental disorders, including fragile X syndrome. Her research includes genotype–phenotype relationships, longitudinal natural-history data, cognitive and language outcome measures, and clinical investigations of possible therapies. Other projects address disorders such as Niemann-Pick type C and Phelan-McDermid syndrome. She leads work to strengthen early-stage clinical-trial expertise for rare neurological conditions. The program connects molecular diagnosis and disease mechanisms with the practical challenge of measuring meaningful changes in patients, while distinguishing experimental treatments from established clinical care.
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Fragile X syndromeRare diseasesNeurogeneticsClinical trials
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