How a Boy Helps Scientists Learn about Autism
2022-01-25
LRC
TXT
大字
小字
滚动
全页
1From VOA Learning English, this is the Health & Lifestyle report.
2As a 16-year-old boy looked closely at a mouse, it ran around an enclosed area in a laboratory.
3"Hi, Jakob 1. I'm Jake."
4Jake Litvag named the mouse, but they share more than just names.
5Scientists genetically engineered Jakob, the mouse, to be similar to Jake in one important genetic way.
6That mouse and its relatives are the first in the world to have the same missing gene that scientists say may cause Jake's condition -- autism.
7Scientists at Washington University in St. Louis raised the mice from stem cells that came from Jake's blood.
8They wanted to study his condition.
9Jake's parents, Joe and Lisa Litvag, visited the laboratory back in December 2021.
10They thought that meeting the scientists - and the mice - would help Jake understand his important part in the research.
11He now considers autism something to be proud of rather than something that makes him different from others.
12"Oh wow. Cool!" Jake said as he watched the research mice.
13Walking out of the lab, Lisa Litvag cried as she thought about her son's cells helping others.
14After meeting the mice, the family visited another lab, where Jake looked through a microscope at his own stem cells.
15"That's me! That's cool stuff. I never saw anything like that in my life," Jake said, as his dad pulled him close.
16Jake's father Joe Litvag told the Associated Press that he and his family are "deeply proud" to be part of the research.
17He added, "What do we live this life for? It's ultimately to try to -- in one way, shape or form -- be of service to others."
18Autism starts in childhood and leads to problems forming relationships and communicating with others.
19Autism disorders include a large group of conditions.
20The abilities and needs of people with autism can also be very different.
21Some people with autism can live independently.
22Others have severe disabilities and require life-long care and support.
23The AP reports that one in 44 children in the United States has an autism spectrum disorder (ASD).
24On its website, the World Health Organization says that worldwide that number is about one in 160 children.
25The Litvags saw early on that Jake was not developing the same as other children.
26He could not walk without help until he was four.
27He struggled to speak complete sentences in first grade.
28At first, no one knew why.
29Jake had a mix of different qualities.
30He had difficulty calming down and controlling his reactions.
31But he was also social and funny.
32He was five years old when doctors said he had autism.
33Then, the Litvags heard that an expert on the genetics of autism was giving a talk at the Saint Louis Science Center.
34There, they met Dr. John Constantino who began seeing Jake as a patient.
35About five years later, Constantino proposed genetic testing.
36The testing found the missing copy of the MYT1L gene.
37This gene is believed to cause one out of every 10,000 to 50,000 autism cases.
38The finding brought the family peace.
39They had heard that autism had other causes, like difficulties during birth.
40Lisa Litvag said, "For a long time, I thought it was something that I did."
41Joe Litvag said that his family came to understand that they did not do anything wrong.
42"It's just that people are born all the time" with genetic differences, he said.
43A large multinational study that appeared in JAMA Psychiatry in 2019 estimated that up to 80 percent of the risk for autism comes from genetics.
44Jake's mother said she never wanted her son to feel badly about his condition.
45She added that the family continues to support the idea that, because of his autism, he has important gifts to share.
46When Constantino suggested studying the MYT1L gene, the Litvags happily agreed.
47To start the research, Jake's family raised about $70,000 from family and friends.
48Scientists then were able to turn that money into $4 million in research aid from the National Institutes of Health.
49Researcher Kristen Kroll and her team reprogrammed cells from Jake's blood into stem cells.
50These special cells can create different kinds of cells in the body.
51Scientist Joseph Dougherty and his team used Jake's genetic information.
52They reproduced Jake's genetic mutation in the mice.
53To do this, they used the gene-editing tool CRISPR.
54Since starting the research about three years ago, scientists have raised around 100 mice with Jake's mutation.
55They are now using the great-great grandchildren of the first mouse they engineered.
56They recently published their research with mice in Neuron.
57Dougherty and his team said they hope their research on MYT1L will lead to treatments to improve or correct the problems the mutation causes.
58They are sharing their findings with scientists studying other genes related to autism.
59They are also trying to discover how different genes work together to cause the condition.
60The Simons Foundation Autism Research Initiative says that more than 100 genes have strong evidence linking them to autism.
61It also says there are several hundred more genes thought to be linked.
62Dougherty said understanding autism will require finding one or two things shared across different forms of the disorder.
63These could be targets for treatment.
64Although not everyone with autism wants treatment, Dougherty said it could help those who do.
65Since the research began, Dougherty has been writing notes to the Litvags explaining the latest discoveries.
66But as a scientist, he is mostly removed from the people behind the research.
67When the Litvag family visited the lab last December, Dougherty wanted to share some news in person.
68The missing gene does not seem to shorten life.
69The mice live two to three years, the same as their brothers and sisters.
70Joe Litvag asked hopefully, "So, a normal life span?"
71"Yes," Dougherty answered.
72As far as the researchers can see, the mice with Jake's genes live as long as the others.
73Joe Litvag turned to his son.
74"So Jake, maybe you will live to be 100."
75"I will be 112!" Jake said, smiling.
76And that's the Health & Lifestyle report. I'm Anna Matteo. And I'm Dan Friedell.
1From VOA Learning English, this is the Health & Lifestyle report. 2As a 16-year-old boy looked closely at a mouse, it ran around an enclosed area in a laboratory. "Hi, Jakob 1. I'm Jake." 3Jake Litvag named the mouse, but they share more than just names. Scientists genetically engineered Jakob, the mouse, to be similar to Jake in one important genetic way. 4That mouse and its relatives are the first in the world to have the same missing gene that scientists say may cause Jake's condition -- autism. 5Scientists at Washington University in St. Louis raised the mice from stem cells that came from Jake's blood. They wanted to study his condition. 6Jake's parents, Joe and Lisa Litvag, visited the laboratory back in December 2021. They thought that meeting the scientists - and the mice - would help Jake understand his important part in the research. He now considers autism something to be proud of rather than something that makes him different from others. 7"Oh wow. Cool!" Jake said as he watched the research mice. Walking out of the lab, Lisa Litvag cried as she thought about her son's cells helping others. 8After meeting the mice, the family visited another lab, where Jake looked through a microscope at his own stem cells. 9"That's me! That's cool stuff. I never saw anything like that in my life," Jake said, as his dad pulled him close. 10Jake's father Joe Litvag told the Associated Press that he and his family are "deeply proud" to be part of the research. He added, "What do we live this life for? It's ultimately to try to -- in one way, shape or form -- be of service to others." 11Autism in children 12Autism starts in childhood and leads to problems forming relationships and communicating with others. Autism disorders include a large group of conditions. The abilities and needs of people with autism can also be very different. Some people with autism can live independently. Others have severe disabilities and require life-long care and support. 13The AP reports that one in 44 children in the United States has an autism spectrum disorder (ASD). On its website, the World Health Organization says that worldwide that number is about one in 160 children. 14The Litvags saw early on that Jake was not developing the same as other children. He could not walk without help until he was four. He struggled to speak complete sentences in first grade. 15At first, no one knew why. Jake had a mix of different qualities. He had difficulty calming down and controlling his reactions. But he was also social and funny. He was five years old when doctors said he had autism. Then, the Litvags heard that an expert on the genetics of autism was giving a talk at the Saint Louis Science Center. There, they met Dr. John Constantino who began seeing Jake as a patient. 16About five years later, Constantino proposed genetic testing. The testing found the missing copy of the MYT1L gene. This gene is believed to cause one out of every 10,000 to 50,000 autism cases. 17The finding brought the family peace. They had heard that autism had other causes, like difficulties during birth. Lisa Litvag said, "For a long time, I thought it was something that I did." 18Joe Litvag said that his family came to understand that they did not do anything wrong. "It's just that people are born all the time" with genetic differences, he said. 19A large multinational study that appeared in JAMA Psychiatry in 2019 estimated that up to 80 percent of the risk for autism comes from genetics. 20Jake's mother said she never wanted her son to feel badly about his condition. She added that the family continues to support the idea that, because of his autism, he has important gifts to share. 21Gifts to give 22When Constantino suggested studying the MYT1L gene, the Litvags happily agreed. To start the research, Jake's family raised about $70,000 from family and friends. Scientists then were able to turn that money into $4 million in research aid from the National Institutes of Health. 23Researcher Kristen Kroll and her team reprogrammed cells from Jake's blood into stem cells. These special cells can create different kinds of cells in the body. Scientist Joseph Dougherty and his team used Jake's genetic information. They reproduced Jake's genetic mutation in the mice. To do this, they used the gene-editing tool CRISPR. 24Since starting the research about three years ago, scientists have raised around 100 mice with Jake's mutation. They are now using the great-great grandchildren of the first mouse they engineered. They recently published their research with mice in Neuron. 25A gift in return 26Dougherty and his team said they hope their research on MYT1L will lead to treatments to improve or correct the problems the mutation causes. 27They are sharing their findings with scientists studying other genes related to autism. They are also trying to discover how different genes work together to cause the condition. 28The Simons Foundation Autism Research Initiative says that more than 100 genes have strong evidence linking them to autism. It also says there are several hundred more genes thought to be linked. 29Dougherty said understanding autism will require finding one or two things shared across different forms of the disorder. These could be targets for treatment. Although not everyone with autism wants treatment, Dougherty said it could help those who do. 30Since the research began, Dougherty has been writing notes to the Litvags explaining the latest discoveries. But as a scientist, he is mostly removed from the people behind the research. 31When the Litvag family visited the lab last December, Dougherty wanted to share some news in person. The missing gene does not seem to shorten life. The mice live two to three years, the same as their brothers and sisters. 32Joe Litvag asked hopefully, "So, a normal life span?" 33"Yes," Dougherty answered. As far as the researchers can see, the mice with Jake's genes live as long as the others. 34Joe Litvag turned to his son. "So Jake, maybe you will live to be 100." 35"I will be 112!" Jake said, smiling. 36And that's the Health & Lifestyle report. I'm Anna Matteo. And I'm Dan Friedell. 37In St. Louis, Laura Ungar reported this story for the Associated Press. Anna Matteo adapted it for VOA Learning English. 38_________________________________________________ 39Words in This Story 40stem cell -n. a simple cell in the body that is able to develop into any one of many different kinds of cells (such as blood cells, skin cells, or other cells) 41ultimately -adv. at the end of a process or period 42proud -adj. very happy and pleased because of something you have done or something that you have 43mutation - n. a permanent change in the genes of an organism