Page 25 - Know your genome_English

Die sebtles down wibh her book. Huntington's disease patients usually look very

thin and show abnormal movements of hands as

if they are dancing. The disease is Caused by the

expansion of a repeat of three letters in the DNA-

CAG. When the CAG repeat becomes very long

it results in gumming up of proteins in brain cells

and eventually some cells die. The brains of
patients suffering from this disease show large

areas of damaged tissu...

U GENE HUNTER
neuropsychologist

NANCY WEXLER
of
story
the

Nancy Wexler saw her mother and uncles suffer from Huntington's disease. She

wondered if she a lso had the mutation for the disease in her genome

She raced against time, to find the disease mutation before the disease would

affect her. She organized researchers' efforts to find the gene and worked with
by Alle Gima
patients in Venezuela where the disease was very common. The discovery of the

mutation also led to a test that helps people at risk, check if they will get the

disease or not, early on, before they start suffering.