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CNN Live At Daybreak
Paging Dr. Gupta: Look at Rare Genetic Disorder
Aired April 24, 2003 - 05:37 ET
THIS IS A RUSH TRANSCRIPT. THIS COPY MAY NOT BE IN ITS FINAL FORM AND MAY BE UPDATED.
THIS IS A RUSH TRANSCRIPT. THIS COPY MAY NOT BE IN ITS FINAL FORM AND MAY BE UPDATED.
CAROL COSTELLO, CNN ANCHOR: On to health news now, it is a rare but fatal disease. Its victims are young children who ironically look very old. Now scientists have made a breakthrough in learning more about the disease.
CNN medical correspondent Dr. Sanjay Gupta has details for you.
(BEGIN VIDEOTAPE)
LESLIE GORDON, SAM'S MOTHER: You want to be in the middle?
DR. SANJAY GUPTA, CNN CORRESPONDENT (voice-over): It's hard to believe, but 6-year-old Sam Burns may have already lived almost half of his life.
GORDON: He was a wonderful baby, the same as any other baby, very special to us, obviously. At 21 months of age, he was diagnosed with Progeria. The children all die of cardiovascular disease at an average age of 13 years. The children are born normally, they're intelligent, they're fun loving and they have this horrible disease that kills them.
GUPTA: Progeria, a rare genetic disorder, was causing Sam to age quickly, too quickly, with no known cure. His parents, both doctors, decided to give Sam a normal life, as much as they could.
GORDON: He goes to public school. He's extremely popular. He's funny. He plays sports with the other children and after about a minute and a half of noticing that he has no hair, the kids just go off and play.
GUPTA: They also began to arm themselves with information. Not an easy task with such a rare disease.
DR. W. TED BROWN, NEW YORK STATE INSTITUTE FOR BASIC RESEARCH: And at any one time, there are probably a dozen or so children living with this condition here in the United States.
GUPTA: It affects about one in eight million newborns and only about 100 cases have ever been documented. Children with Progeria look normal at birth, but within months the signs begin. Tooth formation is delayed. They begin to develop skin problems and their hair starts to fall out. The average life span? Thirteen years.
Until now, very little was known about the cause of this disease. So Sam's mother, a scientist training to be an eye surgeon, quit those jobs and started the Progeria Research Foundation. One year later, with the help of the scientists at the National Human Genome Research Institute, they have found the gene that causes the disease, a single letter mutation on chromosome one.
GORDON: It was very unlikely when we started that we would find this gene. It was like finding a needle in a haystack.
GUPTA: But now, Progeria and the aging process itself will be seen in a new light.
DR. FRANCIS COLLINS, NATIONAL HUMAN GENOME RESEARCH INSTITUTE: This discovery has major consequences for diagnosis and potential new therapies for this devastating disease associated with premature aging and it's likely to shed light on the normal process of aging.
GUPTA: This new discovery will also accelerate the development of a test for Progeria, with one possibly being developed over the next two months. But, of course, Sam, and his parents, are hoping that one day it will lead to a cure.
Dr. Sanjay Gupta, CNN, reporting.
(END VIDEOTAPE)
TO ORDER A VIDEO OF THIS TRANSCRIPT, PLEASE CALL 800-CNN-NEWS OR USE OUR SECURE ONLINE ORDER FORM LOCATED AT www.fdch.com
Aired April 24, 2003 - 05:37 ET
THIS IS A RUSH TRANSCRIPT. THIS COPY MAY NOT BE IN ITS FINAL FORM AND MAY BE UPDATED.
CAROL COSTELLO, CNN ANCHOR: On to health news now, it is a rare but fatal disease. Its victims are young children who ironically look very old. Now scientists have made a breakthrough in learning more about the disease.
CNN medical correspondent Dr. Sanjay Gupta has details for you.
(BEGIN VIDEOTAPE)
LESLIE GORDON, SAM'S MOTHER: You want to be in the middle?
DR. SANJAY GUPTA, CNN CORRESPONDENT (voice-over): It's hard to believe, but 6-year-old Sam Burns may have already lived almost half of his life.
GORDON: He was a wonderful baby, the same as any other baby, very special to us, obviously. At 21 months of age, he was diagnosed with Progeria. The children all die of cardiovascular disease at an average age of 13 years. The children are born normally, they're intelligent, they're fun loving and they have this horrible disease that kills them.
GUPTA: Progeria, a rare genetic disorder, was causing Sam to age quickly, too quickly, with no known cure. His parents, both doctors, decided to give Sam a normal life, as much as they could.
GORDON: He goes to public school. He's extremely popular. He's funny. He plays sports with the other children and after about a minute and a half of noticing that he has no hair, the kids just go off and play.
GUPTA: They also began to arm themselves with information. Not an easy task with such a rare disease.
DR. W. TED BROWN, NEW YORK STATE INSTITUTE FOR BASIC RESEARCH: And at any one time, there are probably a dozen or so children living with this condition here in the United States.
GUPTA: It affects about one in eight million newborns and only about 100 cases have ever been documented. Children with Progeria look normal at birth, but within months the signs begin. Tooth formation is delayed. They begin to develop skin problems and their hair starts to fall out. The average life span? Thirteen years.
Until now, very little was known about the cause of this disease. So Sam's mother, a scientist training to be an eye surgeon, quit those jobs and started the Progeria Research Foundation. One year later, with the help of the scientists at the National Human Genome Research Institute, they have found the gene that causes the disease, a single letter mutation on chromosome one.
GORDON: It was very unlikely when we started that we would find this gene. It was like finding a needle in a haystack.
GUPTA: But now, Progeria and the aging process itself will be seen in a new light.
DR. FRANCIS COLLINS, NATIONAL HUMAN GENOME RESEARCH INSTITUTE: This discovery has major consequences for diagnosis and potential new therapies for this devastating disease associated with premature aging and it's likely to shed light on the normal process of aging.
GUPTA: This new discovery will also accelerate the development of a test for Progeria, with one possibly being developed over the next two months. But, of course, Sam, and his parents, are hoping that one day it will lead to a cure.
Dr. Sanjay Gupta, CNN, reporting.
(END VIDEOTAPE)
TO ORDER A VIDEO OF THIS TRANSCRIPT, PLEASE CALL 800-CNN-NEWS OR USE OUR SECURE ONLINE ORDER FORM LOCATED AT www.fdch.com
