ABOUT THE SPEAKER
Wendy Chung - Geneticist
At the Simons Foundation, Wendy Chung is working to characterize behavior, brain structure and function in people with genetic variations that may relate to autism.

Why you should listen

Wendy Chung is the director of clinical research at the Simons Foundation Autism Research Initiative, which does both basic and applied science to serve people affected by autism spectrum disorders. She's the principal investigator of the foundation's Simons Variation in Individuals Project, which characterizes behavior and brain structure and function in participants with genetic copy number variants such as those at 16p11.2, which are believed to play a role in spectrum disorders.
 
Chung also directs the clinical genetics program at Columbia University. In assessing and treating kids with autism spectrum disorders and intellectual disabilities, she uses advanced genomic diagnostics to explore the genetic basis of neurological conditions. She thinks deeply about the ethical and emotional questions around genetic medicine and genetic testing.

More profile about the speaker
Wendy Chung | Speaker | TED.com
TED2014

Wendy Chung: Autism — what we know (and what we don't know yet)

钟蔚: 自闭症——我们了解多少(还有多少尚未了解)

Filmed:
3,896,604 views

在此番基于事实的演讲中,遗传学专家钟蔚分享了目前有关自闭症谱系障碍的已知事实——比如,自闭症有多重诱因,这些诱因也许是相互联系的。透过诊断过程中的担忧与疑虑,钟蔚和她的团队分析了我们通过研究、治疗和仔细聆听所获得的信息。
- Geneticist
At the Simons Foundation, Wendy Chung is working to characterize behavior, brain structure and function in people with genetic variations that may relate to autism. Full bio

Double-click the English transcript below to play the video.

00:12
"Why?"
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“为什么?”
00:14
"Why?" is a question
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父母们总是问我
00:15
that parents父母 ask me all the time.
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“为什么?”这个问题。
00:18
"Why did my child儿童 develop发展 autism自闭症?"
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“为什么我的孩子得了自闭症?”
00:21
As a pediatrician儿科医师, as a geneticist遗传学家, as a researcher研究员,
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身为儿科医生、基因专家、学者,
00:25
we try and address地址 that question.
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我们试着找出答案。
00:28
But autism自闭症 is not a single condition条件.
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但是自闭症的症状不是单一的。
00:30
It's actually其实 a spectrum光谱 of disorders障碍,
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它事实上是一整个谱系发生了失调,
00:32
a spectrum光谱 that ranges范围, for instance,
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自闭症谱系有很多种表现形式:
00:35
from Justin贾斯汀, a 13-year-old-岁 boy男孩
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比如,13岁的贾斯丁,
00:37
who's谁是 not verbal口头, who can't speak说话,
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他不能说话,
00:41
who communicates相通 by using运用 an iPadiPad的
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只能利用 iPad 与人交流,
00:43
to touch触摸 pictures图片 to communicate通信
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通过触碰图像
00:45
his thoughts思念 and his concerns关注,
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来表达他的想法和担忧。
00:47
a little boy男孩 who, when he gets得到 upset烦乱,
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另一位得了自闭症的男孩
00:49
will start开始 rocking摇摆,
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在难过时会不断摇摆晃动,
00:51
and eventually终于, when he's disturbed不安 enough足够,
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要是足够心烦了,
00:52
will bang his head to the point
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他会撞自己的头,
00:54
that he can actually其实 cut it open打开 and require要求 stitches.
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一直撞到头破血流,需要进行缝线。
00:58
That same相同 diagnosis诊断 of autism自闭症, though虽然,
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同样被诊断得了自闭症的,
01:00
also applies适用 to Gabriel加布里埃尔,
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是另一个13岁男孩,
01:02
another另一个 13-year-old-岁 boy男孩
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他叫戈贝尔,
01:04
who has quite相当 a different不同 set of challenges挑战.
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但他所面对的挑战却截然不同。
01:07
He's actually其实 quite相当 remarkably异常 gifted天才 in mathematics数学.
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实际上,他对数学极有天赋。
01:10
He can multiple three numbers数字 by three numbers数字
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他可以轻易在脑海中
01:12
in his head with ease缓解,
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进行3位数间的乘法运算,
01:14
yet然而 when it comes to trying to have a conversation会话,
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然而要与人谈话时,
01:18
he has great difficulty困难.
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他却无法应对。
01:20
He doesn't make eye contact联系.
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他不会进行眼神交流。
01:22
He has difficulty困难 starting开始 a conversation会话,
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他不会开启一个话题,
01:24
feels感觉 awkward尴尬,
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他会感到尴尬。
01:26
and when he gets得到 nervous紧张,
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当他感到紧张时
01:27
he actually其实 shuts启闭 down.
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就会缄默不言。
01:29
Yet然而 both of these boys男孩
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这些男孩
01:31
have the same相同 diagnosis诊断 of
autism自闭症 spectrum光谱 disorder紊乱.
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都同样被诊断患有自闭症谱系失调。
01:35
One of the things that concerns关注 us
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不过我们关心的一个问题是
01:37
is whether是否 or not there really is
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自闭症是否
是一种流行病。
01:39
an epidemic疫情 of autism自闭症.
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如今,每88个孩子中
01:41
These days, one in 88 children孩子
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01:43
will be diagnosed确诊 with autism自闭症,
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就有一个被诊断出患有自闭症,
01:45
and the question is,
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而问题就是
01:47
why does this graph图形 look this way?
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呈现的数据为什么会是这样?
01:49
Has that number been increasing增加
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患者人数是否随着时间推移
01:51
dramatically显着 over time?
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剧烈地增长呢?
01:53
Or is it because we have now started开始 labeling标签
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还是因为我们现在开始会辨认
01:57
individuals个人 with autism自闭症,
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患有自闭症的儿童,
01:59
simply只是 giving them a diagnosis诊断
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能给他们一个诊断,
02:01
when they were still present当下 there before
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其实这个群体一直都存在,
02:04
yet然而 simply只是 didn't have that label标签?
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只不过一直没人会诊断?
02:06
And in fact事实, in the late晚了 1980s, the early 1990s,
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实际上,
在20世纪80年代末、90年代早期,
02:10
legislation立法 was passed通过
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议会通过了一个法案,
02:11
that actually其实 provided提供 individuals个人 with autism自闭症
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为患自闭症的人
02:14
with resources资源, with access访问 to educational教育性 materials物料
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提供资源,让他们能够同样接受教育,
02:18
that would help them.
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来帮助他们。
02:20
With that increased增加 awareness意识, more parents父母,
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随着人们对自闭症的认识日益增长,
02:23
more pediatricians儿科医生, more educators教育工作者
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更多的父母、儿科医生、教育者
02:26
learned学到了 to recognize认识 the features特征 of autism自闭症.
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了解了如何辨认自闭症的特征。
02:29
As a result结果 of that, more individuals个人 were diagnosed确诊
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于是,更多人被诊断出了自闭症,
02:33
and got access访问 to the resources资源 they needed需要.
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并获得了他们所需的资源。
02:36
In addition加成, we've我们已经 changed our definition定义 over time,
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此外,我们也在不断改变
自闭症的定义,
02:40
so in fact事实 we've我们已经 widened加宽 the definition定义 of autism自闭症,
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实际上,我们拓展了自闭症的定义。
02:43
and that accounts账户 for some of
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这也成为了患者人数
02:44
the increased增加 prevalence流行 that we see.
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不断上升的原因之一。
02:47
The next下一个 question everyone大家 wonders奇迹 is,
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人们想知道的下一个问题是,
02:50
what caused造成 autism自闭症?
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到底是什么引起了自闭症?
02:51
And a common共同 misconception误解
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一个普遍的理论误区是
02:54
is that vaccines疫苗 cause原因 autism自闭症.
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疫苗会引发自闭症。
02:57
But let me be very clear明确:
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但请允许我在此澄清:
03:00
Vaccines疫苗 do not cause原因 autism自闭症.
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疫苗不会引起自闭症。
03:05
(Applause掌声)
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(掌声)
03:11
In fact事实, the original原版的 research研究 study研究
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实际上,最初得出这种
03:13
that suggested建议 that was the case案件
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误导性结论的
是一项彻头彻尾的学术欺诈性研究。
03:15
was completely全然 fraudulent骗人的.
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03:18
It was actually其实 retracted缩回 from the journal日志 Lancet柳叶刀,
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它最初刊登在《柳叶刀》医学期刊上,
03:21
in which哪一个 it was published发表,
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但后来被撤稿了,
03:23
and that author作者, a physician医师,
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文章的作者是一名内科医生,
03:25
had his medical license执照 taken采取 away from him.
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后来也被吊销了执照。
03:28
(Applause掌声)
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(掌声)
03:32
The Institute研究所 of Medicine医学,
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药物监管局
03:34
The Centers中心 for Disease疾病 Control控制,
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以及疾病控制中心
03:35
have repeatedly反复 investigated调查 this
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已经反复研究过这个结论,
03:38
and there is no credible可信的 evidence证据
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并指出并无确凿证据
证明疫苗会引起自闭症。
03:41
that vaccines疫苗 cause原因 autism自闭症.
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03:44
Furthermore此外,
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除此之外,
03:46
one of the ingredients配料 in vaccines疫苗,
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疫苗的组成成分之一:
03:48
something called thimerosal硫柳汞,
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硫柳汞,
03:50
was thought to be what the cause原因 of autism自闭症 was.
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被认为是引发自闭症的诱因。
03:53
That was actually其实 removed去除 from vaccines疫苗
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但这一成分早在1992年就被
03:56
in the year 1992,
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从疫苗中移除,
03:57
and you can see that it really did not have an effect影响
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而你们可以看到这一成分的
移除并未能阻止
04:00
in what happened发生 with the prevalence流行 of autism自闭症.
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自闭症大量增加的情况。
04:03
So again, there is no evidence证据
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因此我必须再次阐明:
没有证据表明
04:05
that this is the answer回答.
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疫苗会导致自闭症。
04:07
So the question remains遗迹, what does cause原因 autism自闭症?
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那们问题依然存在:
到底是什么导致了自闭症?
04:11
In fact事实, there's probably大概 not one single answer回答.
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事实上,答案可能不止一个。
04:14
Just as autism自闭症 is a spectrum光谱,
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就像自闭症是一个谱系一样,
04:16
there's a spectrum光谱 of etiologies病因,
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病因也有一个谱系,
04:18
a spectrum光谱 of causes原因.
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一个诱因的谱系。
04:19
Based基于 on epidemiological流行病学 data数据,
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根据流行病学数据,
04:21
we know that one of the causes原因,
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我们知道,诱因之一,
04:23
or one of the associations协会, I should say,
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或者说,关联因素之一,
04:25
is advanced高级 paternal父亲的 age年龄,
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是较高的父亲年龄,
04:28
that is, increasing增加 age年龄 of the father父亲
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也就是说,在受孕时间
04:30
at the time of conception概念.
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父方的年龄较高。
04:32
In addition加成, another另一个 vulnerable弱势
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自闭症发展阶段中
04:34
and critical危急 period in terms条款 of development发展
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另一个易受影响的关键时期是
04:37
is when the mother母亲 is pregnant.
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母亲的怀孕时期。
04:39
During that period, while
the fetal brain is developing发展,
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在此时期,婴儿的大脑正在发育
04:42
we know that exposure曝光 to certain某些 agents代理
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我们知道与某些介质的接触
04:43
can actually其实 increase增加 the risk风险 of autism自闭症.
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实际上会增加患自闭症的风险。
04:47
In particular特定, there's a medication药物治疗, valproic丙戊酸 acid,
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尤其要指出的是,有一种药物丙戊酸,
04:49
which哪一个 mothers母亲 with epilepsy癫痫 sometimes有时 take,
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有些患有癫痫的母亲们有时会服用,
04:52
we know can increase增加 that risk风险 of autism自闭症.
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也会增加新生儿自闭症的风险。
04:56
In addition加成, there can be some infectious传染病 agents代理
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不止如此,还有些传染性病原体
04:58
that can also cause原因 autism自闭症.
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也会诱发自闭症。
05:01
And one of the things I'm going to spend
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而其中一项我会花
05:02
a lot of time focusing调焦 on
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大量时间研究的,
05:05
are the genes基因 that can cause原因 autism自闭症.
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是能诱发自闭症的基因。
05:07
I'm focusing调焦 on this not because genes基因
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我关注这个不是因为
05:10
are the only cause原因 of autism自闭症,
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基因是自闭症的唯一诱因,
05:12
but it's a cause原因 of autism自闭症
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而是因为这种诱因可以让我们
05:13
that we can readily容易 define确定
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更好地对其给出定义,
05:15
and be able能够 to better understand理解 the biology生物学
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并借此更好地了解生物学,
05:18
and understand理解 better how the brain works作品
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更好地理解大脑的运作方式,
05:20
so that we can come up with strategies策略
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这样我们才能制定出
05:22
to be able能够 to intervene干预.
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干预性策略。
05:25
One of the genetic遗传 factors因素 that we don't understand理解,
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然而其中一项我们不理解的基因因素,
05:27
however然而, is the difference区别 that we see
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是我们在男女患者身上
05:31
in terms条款 of males男性 and females女性.
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观察到的差别。
患上自闭症的男女比例
05:33
Males男性 are affected受影响 four to one compared相比 to females女性
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05:36
with autism自闭症,
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是4:1,
05:37
and we really don't understand理解 what that cause原因 is.
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我们确实不知道原因是什么。
05:41
One of the ways方法 that we can understand理解
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我们了解基因诱因的
05:42
that genetics遗传学 is a factor因子
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方式之一,
05:44
is by looking at something called
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是观察我们所称的
05:46
the concordance和谐 rate.
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“一致率”。
05:47
In other words, if one sibling兄弟 has autism自闭症,
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换言之,如果兄弟姐妹中
有一位患有自闭症,
05:51
what's the probability可能性
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那其他兄弟姐妹
05:52
that another另一个 sibling兄弟 in that family家庭 will have autism自闭症?
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患上自闭症的概率是多少?
05:55
And we can look in particular特定
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我们特别选取了三类兄弟姐妹
05:57
at three types类型 of siblings兄弟姐妹:
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做对照:
05:59
identical相同 twins双胞胎,
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同卵双胞胎,
06:01
twins双胞胎 that actually其实 share分享 100 percent百分
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他们共享100%的
06:03
of their genetic遗传 information信息
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基因信息,
06:05
and shared共享 the same相同 intrauterine宫内 environment环境,
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与其兄弟姐妹共享同一宫腔环境;
第二组是异卵双胞胎,
06:08
versus fraternal兄弟 twins双胞胎,
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06:10
twins双胞胎 that actually其实 share分享 50 percent百分
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异卵双胞胎共享50%的
06:12
of their genetic遗传 information信息,
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基因信息,
第三组是一般的兄弟姐妹,
06:14
versus regular定期 siblings兄弟姐妹,
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06:15
brother-sister兄弟姐妹, sister-sister姐姐妹妹,
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兄妹,姐弟,或者姐妹,
也共享50%基因信息,
06:17
also sharing分享 50 percent百分 of their genetic遗传 information信息,
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06:20
yet然而 not sharing分享 the same相同 intrauterine宫内 environment环境.
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但经历不同的宫腔环境。
06:23
And when you look at those concordance和谐 ratios,
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在观察这些对照组的一致率时,
06:25
one of the striking引人注目 things that you will see
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引人注意的事情之一是,
06:27
is that in identical相同 twins双胞胎,
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同卵胞胎
06:30
that concordance和谐 rate is 77 percent百分.
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一致率为77%。
06:33
Remarkably异常, though虽然,
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要指出的是,
06:34
it's not 100 percent百分.
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这并不是100%。
06:36
It is not that genes基因 account帐户
for all of the risk风险 for autism自闭症,
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基因并不是决定自闭症
风险的全部因素。
06:40
but yet然而 they account帐户 for a lot of that risk风险,
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但基因还是占了很大比例。
06:42
because when you look at fraternal兄弟 twins双胞胎,
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因为当你看异卵双胞胎时,
06:45
that concordance和谐 rate is only 31 percent百分.
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一致率只有31%
06:48
On the other hand, there is a difference区别
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另外,异卵双胞胎之间的一致率
06:50
between之间 those fraternal兄弟 twins双胞胎 and the siblings兄弟姐妹,
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与普通兄弟姐妹的一致率也不同,
06:53
suggesting提示 that there are common共同 exposures曝光
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这表明了异卵双胞胎共享的
06:55
for those fraternal兄弟 twins双胞胎
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一些介质
06:57
that may可能 not be shared共享 as commonly常用
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是普通的兄弟姐妹
无法共同接触到的。
06:59
with siblings兄弟姐妹 alone单独.
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这佐证了一些数据,
07:01
So this provides提供 some of the data数据
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07:03
that autism自闭症 is genetic遗传.
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表明自闭症是遗传的。
07:04
Well, how genetic遗传 is it?
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那么,遗传的影响到底有多大呢?
07:06
When we compare比较 it to other conditions条件
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当我们将它同其他
07:08
that we're familiar with,
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我们熟悉的疾病进行对比,
07:10
things like cancer癌症, heart disease疾病, diabetes糖尿病,
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像癌症,心脏病,厌食症等,
07:14
in fact事实, genetics遗传学 plays播放 a much larger role角色 in autism自闭症
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事实上,相比起来,遗传在自闭症中
07:18
than it does in any of these other conditions条件.
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扮演了更重要的角色。
07:20
But with this, that doesn't
tell us what the genes基因 are.
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但只有这些,
我们还是不知道哪些是致病基因。
07:23
It doesn't even tell us in any one child儿童,
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数据甚至也没有告诉我们,
一个孩子患上自闭症
07:26
is it one gene基因
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是单一基因,
07:28
or potentially可能 a combination组合 of genes基因?
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还是潜在的一组基因造成的结果?
07:30
And so in fact事实, in some individuals个人 with autism自闭症,
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因此,对一些自闭症个体来说,
07:33
it is genetic遗传!
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这明显是遗传的!
07:36
That is, that it is one single,
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也就是说,是由一条单一的
07:38
powerful强大, deterministic确定性 gene基因
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强有力的、决定性的基因
07:40
that causes原因 the autism自闭症.
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引起的自闭症。
07:42
However然而, in other individuals个人,
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然而,在其他个体中,
07:44
it's genetic遗传, that is,
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它基本上是遗传的,也就是说
07:46
that it's actually其实 a combination组合 of genes基因
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那实际上是一组基因
以及整个发育过程,
07:49
in part部分 with the developmental发展的 process处理
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07:52
that ultimately最终 determines确定 that risk风险 for autism自闭症.
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最终决定患上自闭症的风险。
07:55
We don't know in any one person, necessarily一定,
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我们并不知道对于任一个体来说
07:58
which哪一个 of those two answers答案 it is
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哪个答案才是正确的,
08:00
until直到 we start开始 digging挖掘 deeper更深.
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直到我们深入进行发掘。
08:02
So the question becomes,
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所以问题变成了
08:03
how can we start开始 to identify鉴定
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我们如何才能鉴别出
08:06
what exactly究竟 those genes基因 are.
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究竟是哪些基因会引发自闭症。
08:07
And let me pose提出 something
196
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让我展示一些
08:09
that might威力 not be intuitive直观的.
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可能与直觉相悖的东西。
08:11
In certain某些 individuals个人,
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某些个体
08:13
they can have autism自闭症
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可能因为遗传因素
08:15
for a reason原因 that is genetic遗传
200
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患上自闭症,
08:17
but yet然而 not because of autism自闭症 running赛跑 in the family家庭.
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但并不一定因为家族中
多人患有自闭症。
08:21
And the reason原因 is because in certain某些 individuals个人,
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原因就在于,对于某些个体而言,
08:23
they can actually其实 have genetic遗传 changes变化 or mutations突变
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他们实际上会发生基因变化,
或者说变异,
08:26
that are not passed通过 down from the mother母亲
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而这些并非继承自他们的母亲
08:29
or from the father父亲,
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1487
或者父亲,
08:31
but actually其实 start开始 brand new in them,
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2733
而是在他们自己体内才开始的产生,
08:34
mutations突变 that are present当下
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也就是说卵子或精子
受育过程中
08:35
in the egg or the sperm精子
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08:37
at the time of conception概念
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发生的突变,
08:38
but have not been passed通过 down
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并不是随着家族
08:40
generation through通过 generation within the family家庭.
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代代相传而导致的。
08:43
And we can actually其实 use that strategy战略
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我们也能使用这个策略
08:45
to now understand理解 and to identify鉴定
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2334
来理解并甄别
08:47
those genes基因 causing造成 autism自闭症 in those individuals个人.
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在这些个体中引起自闭症的基因。
08:50
So in fact事实, at the Simons西蒙斯 Foundation基础,
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518980
2010
实际上,在西门斯基金会,
08:52
we took 2,600 individuals个人
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我们选取了家族史上
08:55
that had no family家庭 history历史 of autism自闭症,
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没有自闭症的2600个个体,
08:58
and we took that child儿童 and their mother母亲 and father父亲
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3170
同时也选取了这些孩子及他们的父母,
09:01
and used them to try and understand理解
219
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2471
并利用这些样本试着了解
09:04
what were those genes基因
220
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当中引发自闭症的
09:05
causing造成 autism自闭症 in those cases?
221
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2318
基因究竟是哪些?
09:08
To do that, we actually其实 had to comprehensively综合
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为达成这一目标,我们实际上不得不
09:11
be able能够 to look at all that genetic遗传 information信息
223
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全面回顾所有基因信息,
09:13
and determine确定 what those differences分歧 were
224
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并找出父母及孩子
09:15
between之间 the mother母亲, the father父亲 and the child儿童.
225
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之间的不同之处。
09:19
In doing so, I apologize道歉,
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为了达到这个目的,
我得抱歉的告诉大家,
09:21
I'm going to use an outdated过时的 analogy比喻
227
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1884
我将使用过时的百科全书做比喻,
09:23
of encyclopedias百科全书 rather than Wikipedia维基百科,
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2658
而不是利用维基百科。
09:26
but I'm going to do so to try and help make the point
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2999
但我会试着来让大家更明白,
09:29
that as we did this inventory库存,
230
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2358
当我们进行总结归纳时,
09:31
we needed需要 to be able能够 to look at
231
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我们必须能够观察
09:33
massive大规模的 amounts of information信息.
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大量的信息。
09:35
Our genetic遗传 information信息 is organized有组织的
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2287
我们的基因信息存在于
09:37
into a set of 46 volumes,
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46卷百科全书中(影射46条染色体),
09:40
and when we did that, we had to be able能够 to account帐户
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1909
在我们分析数据时,需要对
09:42
for each of those 46 volumes,
236
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1984
这46卷进行逐一计数。
09:44
because in some cases with autism自闭症,
237
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1853
因为在某些自闭症案列中,
09:46
there's actually其实 a single volume that's missing失踪.
238
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2456
实际上是整条单一染色体消失了。
09:48
We had to get more granular粒状 than that, though虽然,
239
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2310
然而我们必须得到更多数据,
09:50
and so we had to start开始 opening开盘 those books图书,
240
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2320
所以,我们不得不打开这些书,
09:53
and in some cases, the genetic遗传 change更改
241
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1880
而在某些案例中,基因变化
09:55
was more subtle微妙.
242
583190
1388
要微妙得多,
09:56
It might威力 have been a single
paragraph that was missing失踪,
243
584578
3186
可能是单一段落(基因片段)消失了,
09:59
or yet然而, even more subtle微妙 than that,
244
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3278
也可能,更微妙地,
10:03
a single letter,
245
591042
1692
单独一个字母(碱基),
10:04
one out of three billion十亿 letters
246
592734
2802
30亿字母(碱基)中的一个,
10:07
that was changed, that was altered改变,
247
595536
2274
被改变了,被替换了,
但仍能极大的影响
10:09
yet然而 had profound深刻 effects效果
248
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1597
10:11
in terms条款 of how the brain functions功能
249
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1913
大脑的功能
10:13
and affects影响 behavior行为.
250
601320
1817
以及患者的行为。
10:15
In doing this within these families家庭,
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2377
通过对这些家族进行反复对比,
10:17
we were able能够 to account帐户 for approximately
252
605514
2318
我们能计算出在这些家族中,
10:19
25 percent百分 of the individuals个人
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607832
2325
大约25%的个体
10:22
and determine确定 that there was a single
254
610157
2547
是由单一,强有力的
基因因素
10:24
powerful强大 genetic遗传 factor因子
255
612704
2196
诱发了自闭症。
10:26
that caused造成 autism自闭症 within those families家庭.
256
614900
3124
10:30
On the other hand, there's 75 percent百分
257
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2252
换句话说,有75%的
10:32
that we still haven't没有 figured想通 out.
258
620276
2451
自闭症原因仍不明。
10:34
As we did this, though虽然,
259
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1470
当我们做这个实验时,
10:36
it was really quite相当 humbling震撼人心,
260
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2094
确实很让我们觉得自己很渺小,
10:38
because we realized实现 that there was not simply只是
261
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2365
因为我们意识到自闭症的基因
10:40
one gene基因 for autism自闭症.
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628656
1941
并不是单一的
10:42
In fact事实, the current当前 estimates估计 are
263
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1749
事实上,现在的数据表明
10:44
that there are 200 to 400 different不同 genes基因
264
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2752
有200到400个不同的基因
10:47
that can cause原因 autism自闭症.
265
635098
1892
都可以导致自闭症。
10:48
And that explains说明, in part部分,
266
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1369
这也部分地解释了
10:50
why we see such这样 a broad广阔 spectrum光谱
267
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2117
为何它的影响形成了
10:52
in terms条款 of its effects效果.
268
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2043
如此宽广的谱系。
10:54
Although虽然 there are that many许多 genes基因,
269
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2225
尽管有如此众多的基因,
10:56
there is some method方法 to the madness疯狂.
270
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2348
确实有通路可以导致发疯。
10:59
It's not simply只是 random随机
271
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1948
这不是随意的
200到400个不同基因,
11:01
200, 400 different不同 genes基因,
272
649040
2230
11:03
but in fact事实 they fit适合 together一起.
273
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1794
事实上,它们是互补的。
11:05
They fit适合 together一起 in a pathway.
274
653064
1866
它们在通路中结合。
11:06
They fit适合 together一起 in a network网络
275
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1472
它们在神经网中互补,
11:08
that's starting开始 to make sense now
276
656402
1832
这样才会在大脑的
功能中产生意义。
11:10
in terms条款 of how the brain functions功能.
277
658234
2698
11:12
We're starting开始 to have a bottom-up自下而上 approach途径
278
660932
2146
我们开始用自上而下的方法
11:15
where we're identifying识别 those genes基因,
279
663078
1709
来辨认那些基因,
11:16
those proteins蛋白质, those molecules分子,
280
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2478
那些蛋白质、分子,
11:19
understanding理解 how they interact相互作用 together一起
281
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1910
理解它们如何互相作用
11:21
to make that neuron神经元 work,
282
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1397
使神经元工作,
11:22
understanding理解 how those neurons神经元 interact相互作用 together一起
283
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2737
理解神经元如何相互作用
11:25
to make circuits电路 work,
284
673309
1219
来使神经中枢工作,
11:26
and understand理解 how those circuits电路 work
285
674528
2016
理解神经中枢如何工作
11:28
to now control控制 behavior行为,
286
676544
1826
来控制行为,
11:30
and understand理解 that both in individuals个人 with autism自闭症
287
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2800
这些理解既针对自闭症个体,
11:33
as well as individuals个人 who have normal正常 cognition认识.
288
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3901
又针对认知正常的个体。
11:37
But early diagnosis诊断 is a key for us.
289
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2458
但早期诊断对我们来说至关重要。
11:39
Being存在 able能够 to make that diagnosis诊断
290
687529
1959
能够在某一个时间点
11:41
of someone有人 who's谁是 susceptible易感
291
689488
1507
提早诊断出
11:42
at a time in a window窗口
292
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2055
某人可能患有自闭症,
11:45
where we have the ability能力 to transform转变,
293
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2347
并在我们还有能力对正在发育的大脑
11:47
to be able能够 to impact碰撞
294
695397
1603
进行改变和影响的时候,
11:49
that growing生长, developing发展 brain is critical危急.
295
697000
2740
及时作出诊断是相当重要的。
11:51
And so folks乡亲 like Ami阿美 Klin克林 have developed发达 methods方法
296
699740
3809
比如Ami Klin这样的团队
已经开发了一些方法
11:55
to be able能够 to take infants婴儿, small babies婴儿,
297
703549
2568
能够在新生儿,婴儿身上,
11:58
and be able能够 to use biomarkers生物标记物,
298
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2533
借助生物标记物,
12:00
in this case案件 eye contact联系 and eye tracking追踪,
299
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3338
这里也就是眼神接触和追踪,
12:03
to identify鉴定 an infant婴儿 at risk风险.
300
711988
2086
来确认婴儿的患病风险。
12:06
This particular特定 infant婴儿, you can see,
301
714074
2165
你们可以看到,这个婴儿
12:08
making制造 very good eye contact联系 with this woman女人
302
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2201
和这位女士有很好的眼神交流,
12:10
as she's singing唱歌 "ItsyItsy, Bitsybitsy的 Spider蜘蛛,"
303
718440
2360
她在唱“织织织织,小蜘蛛……”,
12:12
in fact事实 is not going to develop发展 autism自闭症.
304
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3040
事实上它不会患自闭症。
12:15
This baby宝宝 we know is going to be in the clear明确.
305
723840
2880
我们知道,这个婴儿没问题。
12:18
On the other hand, this other baby宝宝
306
726720
2360
而在另一个例子中,这个婴儿
12:21
is going to go on to develop发展 autism自闭症.
307
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2335
将会发展成自闭症。
12:23
In this particular特定 child儿童, you can see,
308
731415
2227
你们可以看到,这个孩子
12:25
it's not making制造 good eye contact联系.
309
733642
2201
没有进行眼神接触。
12:27
Instead代替 of the eyes眼睛 focusing调焦 in
310
735843
1967
它没有进行目光聚焦
12:29
and having that social社会 connection连接,
311
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2278
并形成社交联系,
12:32
looking at the mouth, looking at the nose鼻子,
312
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2638
而是看着嘴巴、鼻子,
12:34
looking off in another另一个 direction方向,
313
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1783
以及其他方向,
12:36
but not again socially社交上 connecting,
314
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2913
但总是没有社交联系,
12:39
and being存在 able能够 to do this on a very large scale规模,
315
747422
2713
能够大范围地做这些测试,
12:42
screen屏幕 infants婴儿, screen屏幕 children孩子 for autism自闭症,
316
750135
3000
利用强大可靠的方式
12:45
through通过 something very robust强大的, very reliable可靠,
317
753135
2924
对婴儿和儿童进行自闭症筛查,
12:48
is going to be very helpful有帮助 to us in terms条款 of being存在
318
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2716
将会帮助我们
12:50
able能够 to intervene干预 at an early stage阶段
319
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2094
及早发现自闭症
12:52
when we can have the greatest最大 impact碰撞.
320
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3432
并做出最及时的干预治疗。
12:56
How are we going to intervene干预?
321
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2246
那么我们要如何诊治呢?
12:58
It's probably大概 going to be a combination组合 of factors因素.
322
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2830
这可能是多重因素的结合。
13:01
In part部分, in some individuals个人,
323
769377
2039
某些情况下,在一些个体上
13:03
we're going to try and use medications药物治疗.
324
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1879
我们会尝试使用药物。
13:05
And so in fact事实, identifying识别 the genes基因 for autism自闭症
325
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2722
事实上,甄别自闭症的基因
13:08
is important重要 for us
326
776017
1526
非常重要,
13:09
to identify鉴定 drug药物 targets目标,
327
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可以使我们锁定用药目标,
13:11
to identify鉴定 things that we might威力 be able能够 to impact碰撞
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也可以使我们能找到干预的方法,
13:14
and can be certain某些 that that's really
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并确认这是对付自闭症
13:15
what we need to do in autism自闭症.
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可以采取的方式。
13:17
But that's not going to be the only answer回答.
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但这不会是唯一答案。
13:20
Beyond just drugs毒品, we're going
to use educational教育性 strategies策略.
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除了药物,我们也会使用教育策略。
13:23
Individuals个人 with autism自闭症,
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自闭症个体
13:24
some of them are wired有线 a little bit differently不同.
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各自有不同的思维方式。
13:27
They learn学习 in a different不同 way.
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他们以不同的方式学习。
13:29
They absorb吸收 their surroundings环境 in a different不同 way,
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他们以不同的方式吸收学习环境,
13:31
and we need to be able能够 to educate教育 them
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而我们需要能够以最适合
13:33
in a way that serves供应 them best最好.
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他们的方式来帮助他们。
13:36
Beyond that, there are a lot of individuals个人
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此外,在场的还有许多人
13:38
in this room房间 who have great ideas思路
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有出色的想法和新技术
13:40
in terms条款 of new technologies技术 we can use,
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可以供我们借鉴,
13:43
everything from devices设备 we can use to train培养 the brain
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我们可以运用一些设备用来训练大脑,
13:46
to be able能够 to make it more efficient高效
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让它更高效,
13:48
and to compensate补偿 for areas in which哪一个
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还可以为一些仍然有技术困难的领域
13:49
it has a little bit of trouble麻烦,
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提供更行之有效的方法,
13:51
to even things like Google谷歌 Glass玻璃.
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甚至可以使用谷歌眼镜。
13:53
You could imagine想像, for instance, Gabriel加布里埃尔,
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例如,你们可以想象
13:55
with his social社会 awkwardness重仓股,
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有社交障碍的戈贝尔,
13:57
might威力 be able能够 to wear穿 Google谷歌 Glass玻璃
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也许能带上谷歌眼镜
13:58
with an earpiece听筒 in his ear,
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再戴上一副耳机,
14:00
and have a coach教练 be able能够 to help him,
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耳边就可以有一个老师帮助他,
14:02
be able能够 to help think about conversations对话,
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帮助他思考对话,
14:04
conversation-starters谈话起动器,
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能够积极开启对话,
14:06
being存在 able能够 to even perhaps也许 one day
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也许有一天
14:08
invite邀请 a girl女孩 out on a date日期.
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他甚至能约女孩上街。
14:10
All of these new technologies技术
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所有这些新技术
14:12
just offer提供 tremendous巨大 opportunities机会
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都提供了极大的机会,
14:14
for us to be able能够 to impact碰撞
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帮助我们诊断和干预
自闭症个体的症状。
14:16
the individuals个人 with autism自闭症,
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2685
14:19
but yet然而 we have a long way to go.
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但我们还有很长一段路要走。
14:21
As much as we know,
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正如我们所知,
14:23
there is so much more that we don't know,
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我们不知道的还有如此之多。
14:26
and so I invite邀请 all of you
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所以,我在此邀请你们所有人
14:28
to be able能够 to help us think about
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帮助我们思考
14:30
how to do this better,
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如何将它做得更好,
14:31
to use as a community社区 our collective集体 wisdom智慧
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利用我们的集体智慧,
14:34
to be able能够 to make a difference区别,
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来做出改变,
14:36
and in particular特定,
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尤其是,
14:37
for the individuals个人 in families家庭 with autism自闭症,
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有自闭症家族史的个体,
14:40
I invite邀请 you to join加入 the interactive互动 autism自闭症 network网络,
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我诚邀你们加入网络互动自闭症研究,
14:43
to be part部分 of the solution to this,
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2194
为治疗方案贡献自己的力量,
14:46
because it's going to take really a lot of us
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2879
因为,这需要我们众人一起
14:48
to think about what's important重要,
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来思考什么才是重要的,
14:51
what's going to be a meaningful富有意义的 difference区别.
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如何做出有意义的改变。
14:53
As we think about something
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当我们想到一些
14:54
that's potentially可能 a solution,
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有潜力的解决方案,
14:56
how well does it work?
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它到底可以有多大成效?
14:58
Is it something that's really
going to make a difference区别
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是否会为自闭症患者的个人生活,
15:00
in your lives生活, as an individual个人,
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家庭生活,带来真正
15:02
as a family家庭 with autism自闭症?
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积极的影响?
15:04
We're going to need individuals个人 of all ages年龄,
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我们将会需要各个年龄层的个体,
15:06
from the young年轻 to the old,
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青年到老年,
15:08
and with all different不同 shapes形状 and sizes大小
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2159
需要拥有自闭症谱系失调中各种
15:10
of the autism自闭症 spectrum光谱 disorder紊乱
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症状的个体
来确保我们的影响广泛有力。
15:12
to make sure that we can have an impact碰撞.
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2176
15:14
So I invite邀请 all of you to join加入 the mission任务
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所以我们邀请在座所有人
加入这个项目,
15:16
and to help to be able能够 to make the lives生活
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并帮助改善自闭症
个体的生活状态,
15:19
of individuals个人 with autism自闭症
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让他们的生活越来越美好。
15:21
so much better and so much richer更丰富.
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15:23
Thank you.
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谢谢
15:25
(Applause掌声)
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4000
(掌声)
Translated by Martin Owen
Reviewed by Xingyi Ouyang 歐陽杏儀

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ABOUT THE SPEAKER
Wendy Chung - Geneticist
At the Simons Foundation, Wendy Chung is working to characterize behavior, brain structure and function in people with genetic variations that may relate to autism.

Why you should listen

Wendy Chung is the director of clinical research at the Simons Foundation Autism Research Initiative, which does both basic and applied science to serve people affected by autism spectrum disorders. She's the principal investigator of the foundation's Simons Variation in Individuals Project, which characterizes behavior and brain structure and function in participants with genetic copy number variants such as those at 16p11.2, which are believed to play a role in spectrum disorders.
 
Chung also directs the clinical genetics program at Columbia University. In assessing and treating kids with autism spectrum disorders and intellectual disabilities, she uses advanced genomic diagnostics to explore the genetic basis of neurological conditions. She thinks deeply about the ethical and emotional questions around genetic medicine and genetic testing.

More profile about the speaker
Wendy Chung | Speaker | TED.com