New Gene Therapy Methods Fight Rare Diseases
2021-06-07
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1Jordan Janz used to take 40 to 60 pills every day to treat a rare genetic disease.
2But a side effect of the medicine made the 22-year-old smell bad.
3Janz is now taking an experimental gene treatment.
4He thought the treatment might be worth it when he went to work and his friend said he smelled good.
5"And I'm like, 'that's probably the nicest thing you've ever said,'" Janz remembered.
6Janz was born with a damaged gene that made him unable to make a protein needed by many organs in the body.
7Children with the disease, called cystinosis, can vomit many times a day.
8They may need medicine for their eyes every hour to avoid losing their sight.
9Many also need kidney transplants before they are adults.
10Now, Janz and others with rare diseases are hopeful about genetic treatments.
11Gene therapy is now being used to fight disease by supplying the DNA patients lack.
12Janz was the first person in a study of the treatment at the University of California, San Diego.
13He and two other patients with the same disease no longer need eye drops or pills.
14The company that developed the treatment is testing it for several other diseases by changing the target gene.
15Dr. Peter Marks is the head of the U.S. Food and Drug Administration center that deals with gene treatments.
16He said if one method for gene therapy can be found to be safe it can then be adapted for many different uses.
17In the United States, a disease is considered rare if it affects fewer than 200,000 people.
18There are more than 7,000 rare diseases that are believed to affect a total of 30 million Americans.
19Seven kinds of gene therapies are approved in the United States.
20At the end of 2020, 1,085 companies were developing treatments.
21More than 400 gene therapy tests are being carried out.
22Ron Bartek is with the National Organization for Rare Disorders.
23He said there have been many developments in recent years.
24He added, "We're finally looking at the possibility of profoundly beneficial therapies" for many diseases.
25Gene therapies aim to supply a gene to patients who are missing one.
26The goal is to get the new gene where it needs to be without creating other problems.
27Some therapies, like ones for genetic blindness, inject the treatment into the eye.
28Some treatments remove some of a patient's blood cells.
29The cells are then changed to carry the gene and returned to the patient.
30Another therapy puts genes inside disabled viruses.
31One treatment uses HIV, the virus that causes AIDS.
32Orchard Therapeutics in London is one company that has used this method.
33The company said its gene therapy using the HIV virus gave a working immune system to 48 babies who were born without one.
34Gene therapy does not work for all patients.
35It remains unclear how long it lasts, and there are safety concerns.
36Some gene therapies have caused cancer in a few patients.
37The FDA's Peter Marks said safety issues remain a concern.
38He and many other scientists think gene editing may one day provide a long-lasting answer for gene therapy.
39Instead of supplying a missing gene to cells, gene editing permanently changes DNA.
40Janz was treated in 2019 and said he feels "cured."
41But it will take years to know if he actually is.
42He may still need a kidney transplant someday because of damage done by the disease.
43People with cystinosis like Janz are unable to remove cystine, a chemical that builds up in cells.
44Cystine forms hard structures, called crystals, which damage the kidneys, eyes and other organs.
45Its effects can lead to muscle weakness and trouble breathing.
46Tests show that the crystals in Janz's eyes, skin and muscles have greatly decreased.
47Instead of 54 pills a day, he takes vitamins and other nutrients.
48"I have more of a life now," Janz said.
49"I'm going to school. I'm hoping to open up my own business [some] day."
50I'm Caty Weaver.
1Jordan Janz used to take 40 to 60 pills every day to treat a rare genetic disease. But a side effect of the medicine made the 22-year-old smell bad. 2Janz is now taking an experimental gene treatment. He thought the treatment might be worth it when he went to work and his friend said he smelled good. 3"And I'm like, 'that's probably the nicest thing you've ever said,'" Janz remembered. 4Janz was born with a damaged gene that made him unable to make a protein needed by many organs in the body. Children with the disease, called cystinosis, can vomit many times a day. They may need medicine for their eyes every hour to avoid losing their sight. Many also need kidney transplants before they are adults. 5Now, Janz and others with rare diseases are hopeful about genetic treatments. Gene therapy is now being used to fight disease by supplying the DNA patients lack. 6Janz was the first person in a study of the treatment at the University of California, San Diego. He and two other patients with the same disease no longer need eye drops or pills. The company that developed the treatment is testing it for several other diseases by changing the target gene. 7Dr. Peter Marks is the head of the U.S. Food and Drug Administration center that deals with gene treatments. He said if one method for gene therapy can be found to be safe it can then be adapted for many different uses. 8Not so rare 9In the United States, a disease is considered rare if it affects fewer than 200,000 people. There are more than 7,000 rare diseases that are believed to affect a total of 30 million Americans. 10Seven kinds of gene therapies are approved in the United States. At the end of 2020, 1,085 companies were developing treatments. More than 400 gene therapy tests are being carried out. 11Ron Bartek is with the National Organization for Rare Disorders. He said there have been many developments in recent years. He added, "We're finally looking at the possibility of profoundly beneficial therapies" for many diseases. 12Changing DNA 13Gene therapies aim to supply a gene to patients who are missing one. The goal is to get the new gene where it needs to be without creating other problems. 14Some therapies, like ones for genetic blindness, inject the treatment into the eye. Some treatments remove some of a patient's blood cells. The cells are then changed to carry the gene and returned to the patient. 15Another therapy puts genes inside disabled viruses. One treatment uses HIV, the virus that causes AIDS. Orchard Therapeutics in London is one company that has used this method. The company said its gene therapy using the HIV virus gave a working immune system to 48 babies who were born without one. 16Difficulties remain 17Gene therapy does not work for all patients. It remains unclear how long it lasts, and there are safety concerns. Some gene therapies have caused cancer in a few patients. 18The FDA's Peter Marks said safety issues remain a concern. He and many other scientists think gene editing may one day provide a long-lasting answer for gene therapy. Instead of supplying a missing gene to cells, gene editing permanently changes DNA. 19'I have more of a life' 20Janz was treated in 2019 and said he feels "cured." But it will take years to know if he actually is. He may still need a kidney transplant someday because of damage done by the disease. 21People with cystinosis like Janz are unable to remove cystine, a chemical that builds up in cells. Cystine forms hard structures, called crystals, which damage the kidneys, eyes and other organs. Its effects can lead to muscle weakness and trouble breathing. 22Tests show that the crystals in Janz's eyes, skin and muscles have greatly decreased. Instead of 54 pills a day, he takes vitamins and other nutrients. 23"I have more of a life now," Janz said. "I'm going to school. I'm hoping to open up my own business [some] day." 24I'm Caty Weaver. 25Marilynn Marchione reported this story for The Associated Press. Dan Novak adapted it for VOA Learning English. Mario Ritter, Jr. was the editor. 26_____________________________________________________________ 27Words in This Story 28pill -n. a small round object that contains medicine or nutrients that is swallowed 29vomit -v. to have what is in your stomach come out of your mouth because you are sick 30transplant-v. to perform a medical operation in which an organ or other part that has been removed from the body of one person is put into the body of another person 31therapy - n. the treatment of physical or mental illnesses 32adapt - v. to change (something) so that it functions better or is better suited for a purpose 33profound - adj. very strongly felt 34benefit - n. a good or helpful result or effect 35disable - v. to cause (something) to be unable to work in the normal way 36immune system - n. the system that protects your body from diseases and infections