Catherine O'Hara, genetic
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12,000-year-old case of rare genetic disease confirmed in major breakthrough in medicine
Researchers identified the earliest case of a genetic disease with the help of DNA:
In 1963, researchers unearthed two Stone Age skeletons that were buried in an embraced position in a cave in Italy. Now, DNA testing has revealed that one of them had a rare genetic condition.
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This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief
Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological disorder, or KAND.
A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe brain injury and death in healthy patients undergoing routine anesthesia.
A rare form of diabetes affecting newborn babies and caused by a genetic disorder has been discovered by scientists in the UK and Belgium.
A mother's love drives her to pursue experimental treatment as two of her four children battle a rare genetic disease that slowly weakens their muscles.