New Gene Therapy Methods Fight Rare Diseases

 

Jordan Janz used to take 40 to 60 pills every day to treat a rare genetic² disease. But a side effect of the medicine made the 22-year-old smell bad.

Janz is now taking an experimental gene¹ treatment. He thought the treatment might be worth it when he went to work and his friend said he smelled good.

"And I'm like, ‘that's probably the nicest thing you've ever said,'" Janz remembered.

Janz 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 vomit³ 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.

Now, Janz and others with rare diseases are hopeful about genetic treatments. Gene therapy is now being used to fight disease by supplying the DNA⁴ patients lack.

Janz 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.

Dr. 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.

Not so rare

In 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.

Seven 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.

Ron Bartek is with the National Organization for Rare Disorders⁵. 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.

Changing DNA

Gene 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.

Some 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.

Another therapy puts genes⁶ inside disabled viruses. One treatment uses HIV, the virus that causes AIDS. Orchard⁷ 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.

Difficulties remain

Gene therapy does not work for all patients. It remains⁸ unclear how long it lasts, and there are safety concerns. Some gene therapies have caused cancer in a few patients.

The 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 permanently⁹ changes DNA.

‘I have more of a life'

Janz 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.

People 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.

Tests 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 nutrients¹⁰.

"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."

Words in This Story

pill –n. a small round object that contains medicine or nutrients that is swallowed

vomit –v. to have what is in your stomach come out of your mouth because you are sick

transplant—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

therapy — n. the treatment of physical or mental illnesses

adapt — v. to change (something) so that it functions better or is better suited for a purpose

profound — adj. very strongly felt

benefit — n. a good or helpful result or effect

disable — v. to cause (something) to be unable to work in the normal way

immune system — n. the system that protects your body from diseases and infections

1 gene   

n.遗传因子，基因

参考例句：

• A single gene may have many effects.单一基因可能具有很多种效应。
• The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。

2 genetic   

adj.遗传的，遗传学的

参考例句：

• It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
• Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。

3 vomit   

v.呕吐，作呕；n.呕吐物，吐出物

参考例句：

• They gave her salty water to make her vomit.他们给她喝盐水好让她吐出来。
• She was stricken by pain and began to vomit.她感到一阵疼痛，开始呕吐起来。

4 DNA   

(缩)deoxyribonucleic acid 脱氧核糖核酸

参考例句：

• DNA is stored in the nucleus of a cell.脱氧核糖核酸储存于细胞的细胞核里。
• Gene mutations are alterations in the DNA code.基因突变是指DNA密码的改变。

5 disorders   

n.混乱( disorder的名词复数 )；凌乱；骚乱；（身心、机能）失调

参考例句：

• Reports of anorexia and other eating disorders are on the increase. 据报告，厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
• The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》

6 genes   

n.基因( gene的名词复数 )

参考例句：

• You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因，所以能够活得很长。 来自《简明英汉词典》
• Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪

7 orchard   

n.果园，果园里的全部果树，(美俚)棒球场

参考例句：

• My orchard is bearing well this year.今年我的果园果实累累。
• Each bamboo house was surrounded by a thriving orchard.每座竹楼周围都是茂密的果园。

8 remains   

n.剩余物，残留物；遗体，遗迹

参考例句：

• He ate the remains of food hungrily.他狼吞虎咽地吃剩余的食物。
• The remains of the meal were fed to the dog.残羹剩饭喂狗了。

9 permanently   

adv.永恒地，永久地，固定不变地

参考例句：

• The accident left him permanently scarred.那次事故给他留下了永久的伤疤。
• The ship is now permanently moored on the Thames in London.该船现在永久地停泊在伦敦泰晤士河边。

10 nutrients   

n.（食品或化学品）营养物，营养品( nutrient的名词复数 )

参考例句：

• a lack of essential nutrients 基本营养的缺乏
• Nutrients are absorbed into the bloodstream. 营养素被吸收进血液。 来自《简明英汉词典》