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UrduSpinocerebellar ataxia 4 is a devastating progressive movement disorder. A multinational study has now conclusively identified the genetic difference that causes the disease, bringing answers to families and opening the door to future treatments.
Tag: Medical Genetics
Acclaimed Clinical Geneticist Dr. Bruce Korf Honored with 2024 David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine
Renowned clinical geneticist Bruce Korf, MD, PhD, FACMG, has been named the recipient of the 2024 ACMG Foundation for Genetic and Genomic Medicine’s David L. Rimoin Lifetime Achievement Award in Medical Genetics.
A rare genetic condition with an even rarer treatment
Doctors try to improve the life of a four-year-old with a rare genetic disease and other patients like her