An Interactive Annotated World Bibliography of Printed and Digital Works in the History of Medicine and the Life Sciences from Circa 2000 BCE to 2022 by Fielding H. Garrison (1870-1935), Leslie T. Morton (1907-2004), and Jeremy M. Norman (1945- ) Traditionally Known as “Garrison-Morton”

15961 entries, 13944 authors and 1935 subjects. Updated: March 22, 2024

GUSELLA, James Francis

1 entries
  • 14008

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

Cell, 72, 971-983, 1993.

Identification by the many scientists in The Huntington's Disease Collaborative Research Group, including Gusella, of the single defective gene on chromosome 4 that causes the progressive brain disorder, Huntington's disease. The defect is dominant, meaning that anyone who inherits it from a parent with Huntington's will eventually develop the disease. The defective gene codes for a protein called huntingtin. Since identification of the defective gene, a diagnostic genetic test has been developed that can detect the defective gene in people who do not yet have symptoms of the disease.



Subjects: GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Inherited Neurological Disorders › Huntington's Chorea