Revolucin CRISPR curarnos o mejorar nuestro genes

Translator: Gisela Giardino
Reviewer: Sebastian Betti

When I was a kid I used to watch
a lot of sci-fi movies

in which there were
genetically modified beings

to have superior bodies or intelligences.

I remember Blade Runner’s replicants.

They really caused an impression on me.

Today, science is not that far
from that fiction.

In 2018 in China,

twins were born whose embryos
were genetically modified

with a mutation that would make them

HIV-resistant,

the virus that causes AIDS.

Since the mid-20th century

we know that the genes of all organisms

are made up of DNA molecules,

also known as
“the molecules of life”.

Genes determine that a plant
has large or small leaves,

that an insect has wings or not,

or that a person has
brown or grey eyes.

When the chemical composition
of a gene’s DNA changes,

the characteristics this gene defines
also change.

For many years, changing the chemical
composition of DNA in humans

had been very, very difficult.

But everything changed recently

when a revolutionary technique
called CRISPR was developed.

The birth of the twins in China

is the beginning of a new era
in modern medicine.

Genetic manipulation of
human beings is already possible.

Maybe some of you
already heard of this technique.

What is CRISPR?

It is much easier to modify
embryonic cells with CRISPR

than to explain the meaning
of the acronym.

For the curious, CRISPR means

“clustered regularly interspaced
short palindromic repeats.”

Unfathomable, I know.

I would simplify it like this:

if an organism’s DNA contains
all necessary instructions

to build that organism,

CRISPR is a text editor that can
easily change those instructions.

I was one of the first scientists

dedicated to CRISPR research.

My discipline is not genetic engineering
but microbiology.

I study how bacteria defend themselves
against their viruses.

Yes, it’s not just human beings
and animals that get infected by viruses.

Also bacteria.

CRISPR is the immune system
these little single-celled guys have

to defend against viruses.

In 2008, together with my colleague
Erik Sontheimer,

we found out how CRISPR works.

Bacteria program CRISPR to cut viral DNA,

in that way destroy the virus
and cure themselves of the infection.

In the publication of this work
we proposed that this mechanism,

that evolved naturally in bacteria,

could be transplanted
to other organisms

for medical and biotechnological
applications.

In particular, we thought
it could be used

for the modification of human genes.

Why? Because two steps
are required to modify genes.

First, we have to cut the gene
we want to modify.

And second, we have to repair
or fix that gene

with a DNA sequence that is the one
we want to introduce,

which would modify the gene.

Repairing cut DNA is relatively simple

because cells can do it themselves.

Any damage to the DNA
immediately triggers mechanisms

that repair it with other DNA
from a similar sequence.

This other DNA, similar to the cut DNA,
is called template DNA.

And it’s very easily introduced
by a researcher

after cutting the DNA with CRISPR.

What was always very difficult to achieve
was to develop a technique

that would cut specifically
a gene among all the genes

that we have in the cells.

So, along with Feng Zhang,
an expert in genetic engineering,

we decided to transport the CRISPR system
from bacteria to human cells

to have it do the same
it does in bacteria:

cut DNA specifically.

We program CRISPR to cut
the human gene EMX1,

and we repaired it with a template DNA

introducing three
modifications to the DNA.

After several tests
to fine-tune the technique

we got mutant cells
which had all the three modifications

that we designed ourselves.

We published our work in 2013

and because of the efficiency
and the simplicity of the technology,

it was adopted by research labs

around the world.

It was the beginning
of the CRISPR revolution.

This new technology has
two fundamental problems.

One is technical and the other, ethical.

The first, the technical one, is
that CRISPR can have “side effects”.

What does that mean?

That CRISPR can cut not only
the gene you want to cut,

but also another gene,
therefore introducing mutations

you don’t want to introduce.

To reduce this risk
CRISPR is usually programmed

in several different ways.

And only those

with minimal and acceptable risk
of side effects are adopted.

Taking these precautions,
today CRISPR is already being used

for multiple medical applications.

Although all of them are still
in an experimental phase.

For example, immune system cells
can be modified

to attack cancer cells
and therefore attack tumors.

Certain lymphomas and leukemias
are starting to be treated

with this technology.

Research is also after new therapies

to cure genetic diseases.

CRISPR is injected to modify
the defective gene

that causes that disease and correct it,

and in this way restore
the functions of the organs

that are affected by the deficient gene.

In other fields, it is already beyond
the experimental stage

and it’s making significant impact.

In agriculture, for example,
CRISPR can be used

to have crops with higher yields,

resistant to certain
environmental conditions.

Livestock can be modified with CRISPR

to increase meat production

and be more resilient
certain diseases.

No doubt CRISPR
will be one of the technologies

that’s going to help
feeding the world by 2050,

with its 10 billion inhabitants.

The second problem, the ethical one,
is much more serious.

Embryonic cell manipulation
that would result

in the creation of
genetically modified human beings

has been disapproved by all
scientific academies worldwide.

Because the modification of embryos
has a lot of troubles.

One is risk.

In all medical interventions
there are risks.

Another problem is the lack
of consent.

The person being born
from embryos modified with CRISPR

can’t decide.

It is possible to imagine children
blaming their parents

for having introduced them traits
they didn’t want to have.

There’s also the problem
of inequality.

Not everyone will have the resources
to access this technology,

which would widen the gap even more
between the poor and the rich,

whether it’s people or countries.

But the most complicated question is:

in which cases is acceptable
the “genetic improvement” of humans?

From a religious point of view
probably never.

From a medical point of view
it would only be accepted

if it is possible to cure genetic diseases

that have no other treatment available.

But what will happen if future parents
want to give their children advantages

by changing their genes?

Currently, doping is not accepted
in athletes.

Would we allow competitions with athletes

that were genetically modified?

The case of the CRISPR twins
makes it clear to us

how complex the problem is.

The researchers who performed
the treatment of the embryos

justified it by labeling it
as AIDS prevention,

but the rest of the
scientific community

saw it as a clear example
genetic improvement,

which was also carried out

regardless of
the possible side effects,

and not even calculating
the risks it might have.

The disapproval didn’t just come
from the scientific world.

Researchers involved
were sentenced to three years in prison.

Today we all agree that
the experiment carried out in China

was completely irresponsible
and premature.

But it made it clear to us
that genetic modification of humans

is possible and that it will certainly
be part of the world to come.

It was the take-off of a ship to a future,
and there is no turning back.

While there’s still a long way to go
to know what genes

we have to change in people

to create the “replicants”
of Blade Runner,

CRISPR gave us the tool to do it

when we have that knowledge.

But we can’t wait arms crossed.

Now it’s time to start
discussing and debating

how we are going to use
this new technology.

译者:Gisela Giardino
审稿人:Sebastian Betti

当我还是个孩子的时候,我经常
看很多科幻电影

,其中有
转基因

生物拥有优越的身体或智慧。

我记得银翼杀手的复制人。

他们真的给我留下了深刻的印象。

今天,科学
与这种虚构并不遥远。

2018 年在中国

诞生了一对双胞胎,他们的胚胎
经过基因改造

,基因突变使他们能够

抵抗艾滋病毒,

这种病毒会导致艾滋病。

从20世纪中叶开始,

我们知道所有生物的基因

都是由DNA分子组成的,

也就是所谓的
“生命分子”。

基因决定了植物
的叶子大小

,昆虫有没有翅膀,

或者一个人有
棕色或灰色的眼睛。


基因 DNA 的化学成分发生变化时,

该基因定义的特征
也会发生变化。

多年来,改变
人类 DNA 的化学成分

一直非常非常困难。

但最近,

当一种名为 CRISPR 的革命性技术
被开发出来时,一切都发生了变化。

这对双胞胎在中国的诞生


现代医学新纪元的开始。

人类的基因操作已经成为可能。

也许你们中的一些人
已经听说过这种技术。

什么是CRISPR?

用 CRISPR 修饰胚胎细胞

比解释
首字母缩略词的含义要容易得多。

对于好奇的人来说,CRISPR 的意思是

“成簇的规律间隔的
短回文重复序列”。

深不可测,我知道。

我会这样简化它:

如果一个有机体的 DNA 包含

构建该有机体的所有必要指令,那么

CRISPR 是一个可以
轻松更改这些指令的文本编辑器。

我是最早

致力于 CRISPR 研究的科学家之一。

我的学科不是基因工程,
而是微生物学。

我研究细菌如何
抵御病毒。

是的,感染病毒的不只是人类
和动物。

还有细菌。

CRISPR 是
这些单细胞小家伙

必须抵御病毒的免疫系统。

2008 年,我们和我的同事
Erik Sontheimer

一起发现了 CRISPR 的工作原理。

细菌对 CRISPR 进行编程以切割病毒 DNA

,从而破坏病毒
并治愈自身感染。

在这项工作的出版中,
我们提出这种

在细菌中自然进化的机制

可以移植
到其他生物体中

用于医学和生物技术
应用。

特别是,我们认为
它可以

用于人类基因的修饰。

为什么? 因为
修改基因需要两个步骤。

首先,我们必须切割
我们想要修改的基因。

其次,我们必须使用我们想要引入的 DNA 序列来修复
或修复该基因

这将修改该基因。

修复切割的 DNA 相对简单,

因为细胞可以自己完成。

对 DNA 的任何损伤都会
立即触发

用来自相似序列的其他 DNA 修复它的机制

这种与切割 DNA 相似的另一种 DNA
称为模板 DNA。

在用 CRISPR 切割 DNA 后,研究人员很容易引入它。

总是很难实现的
是开发一种技术

,可以
在我们细胞中的所有基因中特异性地切割一个基因

因此,我们与基因工程专家张锋一起,

决定将 CRISPR 系统
从细菌转移到人体细胞


让它在细菌中做同样的事情:

专门切割 DNA。

我们对 CRISPR 进行编程以
切割人类基因 EMX1,

并使用模板 DNA 对其进行修复,

从而对 DNA 进行三种修饰。

经过多次测试
以微调技术,

我们得到了突变细胞
,其中

包含我们自己设计的所有三种修饰。

我们在 2013 年发表了我们的工作

,由于该技术的效率
和简单性,

它被世界各地的研究实验室采用


是 CRISPR 革命的开始。

这项新技术有
两个基本问题。

一个是技术性的,另一个是道德性的。

第一个,技术上的,
是CRISPR可以有“副作用”。

这意味着什么?

CRISPR 不仅可以切割
您想要切割的基因,还可以切割

另一个基因,
因此会引入

您不想引入的突变。

为了降低这种风险,
CRISPR 通常

以几种不同的方式进行编程。

并且只采用那些副作用

风险最小且可接受的那些

采取这些预防措施,
今天 CRISPR 已经被

用于多种医疗应用。

尽管它们都还
处于实验阶段。

例如,可以修改免疫系统细胞

以攻击癌细胞
,从而攻击肿瘤。

某些淋巴瘤和
白血病开始

用这种技术治疗。

研究也在

寻找治疗遗传疾病的新疗法。

注射 CRISPR 以修改

导致该疾病的缺陷基因并纠正它,

从而恢复

受缺陷基因影响的器官的功能。

在其他领域,它已经超出
了实验阶段

,并且正在产生重大影响。

例如,在农业中,
CRISPR 可

用于生产具有更高产量、

对某些环境条件具有抗性的作物

可以使用 CRISPR 对牲畜进行改造,

以增加肉类产量并增强对

某些疾病的抵抗力。

毫无疑问

,到
2050 年,CRISPR 将成为帮助养活全世界

100 亿居民的技术之一。

第二个问题,道德问题,
要严重得多。

导致产生
转基因人类的胚胎细胞操作

已被全世界所有科学院所反对

因为胚胎的修改
有很多麻烦。

一是风险。

在所有医疗干预
中都存在风险。

另一个问题是
缺乏同意。

用 CRISPR 修饰的胚胎出生的人

无法决定。

可以想象孩子们
责备他们的父母

向他们介绍了
他们不想拥有的特质。

还有
不平等的问题。

不是每个人都有资源
来使用这项技术,

这将进一步扩大
贫富之间的差距,

无论是人民还是国家。

但最复杂的问题是:

在哪些情况下可以接受
人类的“基因改良”?

从宗教的角度来看,
可能永远不会。

从医学的角度来看

只有当有可能治愈

没有其他治疗方法的遗传疾病时,它才会被接受。

但是,如果未来的父母
想通过改变他们的基因来给他们的孩子带来优势

,会发生什么呢?

目前,运动员不接受兴奋剂

我们会允许与

转基因运动员比赛吗?

CRISPR 双胞胎的案例
让我们清楚地

知道这个问题有多复杂。

进行胚胎治疗的研究人员

通过将其标记
为艾滋病预防来证明其合理性,

但科学界的其他人

认为这是一个明显的例子,
遗传改良,

这也是在不

考虑可能的副作用的情况下进行的,

甚至没有计算
它可能存在的风险。

反对意见不仅
来自科学界。

涉及的研究人员
被判处三年徒刑。

今天我们都同意,
在中国进行的实验

是完全不负责任
和不成熟的。

但它向我们
表明,对人类进行基因改造

是可能的,而且它肯定
会成为未来世界的一部分。

这是一艘驶向未来的船
,没有回头路。

虽然
要知道

我们必须改变人们的哪些基因

才能创造出《银翼杀手》的“复制人”
,还有很长的路要走,但当我们掌握了这些知识时,

CRISPR 为我们提供了实现这一目标的工具

但我们不能等待双臂交叉。

现在是时候开始
讨论和辩论

我们将如何使用
这项新技术了。