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Former FDA Commissioner Dr. Scott Gottlieb on finding cures for rare diseases

前FDA专员Scott Gottlieb博士谈寻找罕见病的治疗方法

Squawk Box

喳喳盒

Thirty million. It's a big number. Maybe not in the context of business news, where we usually talk about company valuations that are in the billions, or even trillions. But when we're talking about people, 30 million is a very big number.

三千万。这是一个很大的数字。也许在商业新闻的背景下不算大，因为我们通常谈论的是数十亿甚至数万亿美元的公司估值。但是当我们谈论的是人时，三千万就是一个非常大的数字了。

Thirty million is the number of people that the National Organization of Rare Disorders estimates are living with a rare disease in the United States.

美国国家罕见疾病组织估计，有三千万人生活在美国患有罕见疾病。

Defining a rare disease can be tricky.

定义一种罕见病可能会很棘手。

In the U.S., a disease is considered rare if fewer than 200,000 Americans

在美国，如果患某种疾病的美国人少于 20 万，那么这种疾病就被认为是罕见病。

are diagnosed with it. The Centers for Disease Control and Prevention says that works out to be less than

被诊断出患有此病。疾病控制和预防中心表示，这一数字相当于不到

7 in 10,000 people

7 in 10,000 people

. In the European Union, a disease is classified as rare if it affects no more than

在欧盟，如果一种疾病影响的人数不超过一定数量，则被归类为罕见病。

5 in 10,000 people

5 in 10,000 people

. In China, it's

。在中国，它是

1 in 10,000

万分之一

. Any way you define it, patient populations within the rare disease community are smaller than those diagnosed with more well-known diseases like Alzheimer's, which the Alzheimer's Association estimates stood at more than 7 million in the U.S. as of last year. But when you consider that there are more than 10,000 rare diseases, and as many as 400 million people suffering from them worldwide, you start to take notice..

无论你如何定义它，罕见病社区的患者群体比那些被诊断为更广为人知的疾病（如阿尔茨海默病）的患者群体要小，据阿尔茨海默病协会估计，仅美国去年就有超过700万人患有阿尔茨海默病。然而，当你考虑到全球有超过10,000种罕见病，并且有多达4亿人受其影响时，你就会开始关注。

That's why we're launching CNBC Cures, a new initiative to help raise awareness of rare diseases and improve patient outcomes for people living with them. Led by '

这就是为什么我们要推出CNBC Cures，这是一项旨在提高人们对罕见疾病的认识并改善患者预后的新举措。由

Squawk Box

喳喳叫的盒子

' anchor

' 锚点

Becky Quick

贝琪·奎克

, the initiative was inspired by

，该倡议的灵感来自

her family's own rare disease journey

她的家族自身的罕见病历程

.

。

Kaylie's diagnostic odyssey

凯莉的诊断之旅

Quick's youngest daughter, Kaylie, was just 7 months old when Becky first suspected that something wasn't right.

奎克最小的女儿凯莉才7个月大时，贝琪就第一次怀疑有什么地方不对劲。

'She was not meeting some of her developmental milestones, and I was worried about it,' Quick said.

“她没有达到一些发育里程碑，我对此感到担忧，”奎克说。

Becky and Kaylie on a merry-go-round.

贝琪和凯莉在旋转木马上。

Becky Quick

贝琪·奎克

Kaylie visited several doctors, and at first, none of them seemed concerned. But after several months, a developmental-behavioral pediatrician diagnosed Kaylie with global developmental delay, a broad term given to a child that is significantly delayed in hitting developmental milestones, like walking and talking.

凯莉拜访了多位医生，起初，似乎都没有人对此表示担忧。但几个月后，一位发育行为儿科医生诊断凯莉患有全面发育迟缓，这是用于描述一个孩子在达成发育里程碑（如走路和说话）方面显著延迟的广义术语。

But the diagnosis didn't point to a cause. .

但是诊断并没有指出原因。

Her family was left grasping for answers until just before Kaylie's third birthday, when a genetic test revealed the root cause of Kaylie's struggles. She had SYNGAP1, a rare genetic disease that has only been diagnosed in about 1,700 people in the world.

直到凯莉三岁生日前不久，基因测试揭示了她问题的根源，她的家人一直困惑不解。她患有SYNGAP1，这是一种罕见的遗传病，全世界仅约1700人被诊断出。

'Our neurologist didn't know what it was,' said Quick. 'She told us, 'You'll probably know more about this by the end of the weekend than I do.' And we did.'

“我们的神经科医生不知道这是什么，”奎克说。“她告诉我们，‘到周末你们可能比我更了解这个情况。’我们确实知道了。”

'We ran to Google and started googling things,' Quick explained. 'There were researchers who were already doing work, and thank God they had been. That's why we knew as much as we did about SYNGAP1.'

“我们跑到谷歌上开始搜索，”奎克解释说。“已经有研究人员在做相关工作了，感谢上帝他们做了。这就是为什么我们对SYNGAP1有所了解。”

SynGAP is a protein crucial to brain development. It helps with learning and memory, and also with regulating communication in the synapses of the brain. Kaylie has a genetic mutation in her SYNGAP1 gene that causes her brain to get only about half the SynGAP protein it should be getting. That makes it difficult for the neurons in her brain to communicate effectively with each other..

SynGAP是一种对大脑发育至关重要的蛋白质。它有助于学习和记忆，同时也有助于调节大脑突触中的通信。凯莉的SYNGAP1基因发生了遗传突变，导致她的大脑只能获得应有数量一半的SynGAP蛋白。这使得她大脑中的神经元难以有效地相互通信。

Despite SYNGAP1's small patient population, it is thought to be much more prevalent than it once was. Mutations in the SYNGAP1 gene are surprisingly common and are estimated to account for between 1%-2% of all intellectual disabilities. An

尽管SYNGAP1的患者群体较小，但其患病率被认为比以往高得多。SYNGAP1基因的突变出人意料地普遍，估计占所有智力障碍病例的1%-2%。

article

文章

published by CURE SYNGAP1 indicates the figure could be as high as 76,000 in the U.S. alone. But because most doctors don't know the symptoms of SYNGAP1, and the vast majority of newborns aren't screened for genetic diseases at birth, it's believed that most cases of SYNGAP1, like many rare diseases, go undiagnosed..

CURE SYNGAP1 发表的数据显示，仅在美国，这一数字可能高达 76,000。但由于大多数医生不了解 SYNGAP1 的症状，且绝大多数新生儿在出生时并未接受遗传病筛查，因此人们认为，像许多罕见病一样，大多数 SYNGAP1 病例都未能得到诊断。

SYNGAP1 is a

SYNGAP1 是一个

spectrum disorder

谱系障碍

, meaning not all patients are affected the same way or with the same severity. It's common for SYNGAP1 patients to have seizure disorders, intellectual disabilities, autism, motor skill delays, difficulty forming speech, balance and coordination issues, and high pain thresholds. Kaylie has all these symptoms..

，这意味着并非所有患者都以相同的方式或相同的严重程度受到影响。SYNGAP1患者通常患有癫痫、智力障碍、自闭症、运动技能迟缓、语言形成困难、平衡和协调问题以及高痛阈。凯莉有所有这些症状。

Kaylie smiling when she was younger.

凯莉小时候笑得很开心。

Becky Quick

贝琪·奎克

As Kaylie grew and became more mobile, dealing with her symptoms became more difficult.

随着凯莉长大变得更加好动，处理她的症状变得更为困难。

'We have all the doors locked all the time so that she doesn't walk out. She doesn't know to call out if she needs help,' said Quick. 'She used to fall and hurt herself and not even realize it or say anything. You'd see the blood, or you'd see the bruise,' Quick added.

“我们一直锁着所有的门，以防她走出去。她不知道需要帮助时要呼救，”奎克说。“她以前会摔倒受伤，却意识不到或者不说出来。你会看到血迹，或者看到瘀伤，”奎克补充道。

Despite her physical challenges, Quick says Kaylie is still a happy and active kid. 'She can do all of these things that people thought maybe she couldn't. She doesn't just walk. She runs. She runs everywhere, through the house, through the outside. She jumps. She's a daredevil. She loves roller coasters … she loves movement,' Quick added..

尽管面临身体上的挑战，奎克说凯莉仍然是一个快乐且活跃的孩子。“她可以做所有这些人以为她做不到的事情。她不只是走路，她会跑，她在家里的每个角落、外面到处跑，她会跳，她是个大胆的孩子，她喜欢过山车……她热爱运动，”奎克补充道。

Kaylie on a ride at Sesame Place.

凯莉在芝麻街乐园游玩。

Becky Quick

贝琪·奎克

There is no cure for SYNGAP1. There are several treatments in development, though none have yet progressed beyond clinical trials.

SYNGAP1没有治愈方法。虽然有几种治疗方法正在开发中，但尚未有进展到临床试验之外。

Progress has been made in identifying more individuals with SYNGAP1. A 2019 census found just 484 patients worldwide. Shortly after Kaylie's diagnosis, that figure jumped to 1,000. It now stands at more than 1,700 globally.

在确认更多SYNGAP1患者方面已取得进展。2019年的人口普查发现全球仅有484名患者。在Kaylie确诊后不久，这一数字跃升至1,000人。目前全球已超过1,700人。

Expanded access to genetic screening for newborns, a cause nearly everyone in the rare disease community is rallying behind, could help further identify more SYNGAP1 patients. That's key when dealing with rare diseases because a bigger patient pool can attract more research and funding for treatments.

扩大新生儿基因筛查的范围，这是几乎整个罕见病社区都在支持的事业，有助于进一步识别更多的SYNGAP1患者。在应对罕见病时，这一点至关重要，因为更多的患者群体可以吸引更多的研究和治疗资金。

It also helps regulators better understand the scope of a disease, which can ultimately get those treatments to market more quickly..

它还有助于监管机构更好地了解疾病的范围，这最终可以使这些治疗更快地进入市场。

While there is no treatment that Kaylie can take to reverse her disorder, her parents have put in place a routine anchored by her therapists, her family, and a strong support system to help her battle through the many challenges she faces.

虽然凯莉无法通过治疗逆转她的疾病，但她的父母已经建立了一个以她的治疗师、家人和强大的支持系统为依托的日常安排，帮助她战胜面临的诸多挑战。

'She works really hard every day. Every single day Kaylie works harder than any of the rest of us, and that's just who she is,' Quick said.

“她每天都非常努力地工作。每一天，凯莉都比我们所有人都要努力，这就是她的个性，”奎克说。

'She loves her sisters and her brother. She loves her cousins and she loves her family. She's got friends at school … she is just happy every single day, and I am grateful for that.'

“她爱她的姐妹们，也爱她的兄弟。她爱她的堂表亲们，她爱她的家人。她在学校有朋友……她每天都非常开心，我对此心怀感激。”

Why CNBC?

为什么选择CNBC？

'I've been amazed at how many people are going through something similar,' Quick said. 'The idea that this is a universal struggle that so many people are going through … that kind of got the wheels turning for us.'

“我惊讶于有这么多人正在经历类似的事情，”奎克说。“这种普遍存在的挣扎，许多人都在经历的想法……这让我们开始思考。”

'We're the lucky ones. We have resources,' Quick said. She and her family began to think about how they could make a difference for others navigating a rare disease diagnosis.

“我们是幸运的。我们有资源，”奎克说。她和她的家人开始思考，如何能够为其他正在应对罕见病诊断的人带来改变。

Rare diseases often go overlooked by investors and pharmaceutical companies. As a result, patients diagnosed with a rare disease usually go underserved by the medical community. Smaller diagnosed patient populations make it difficult to attract funding for research into rare disease treatments. And where promising research does exist, those smaller patient populations make it more difficult for potentially lifesaving treatments to clear regulatory hurdles and get to the patients that need them. .

罕见疾病常常被投资者和制药公司忽视。因此，被诊断出患有罕见疾病的患者通常得不到医学界的充分服务。较小的患者群体难以吸引对罕见病治疗研究的资金投入。即使存在前景良好的研究，这些较小的患者群体也使潜在的救命疗法更难通过监管审批，无法到达需要它们的患者手中。

This is where Quick saw an opportunity to make a difference.

这是Quick看到可以有所作为的机会的地方。

'We thought, you know, CNBC has a pretty unique audience. It's got an influential audience. It's an audience of people who know how to get things done. Why not tap into what they can bring to the table too?' she said.

“我们想，你知道的，CNBC 的观众非常独特。他们是有影响力的观众，是由懂得如何成事的人组成的。为什么不利用他们能带来的资源呢？”她说道。

CNBC Cures is teaming up with some of the

CNBC Cures 正在与一些机构合作

nation's top researchers, doctors, regulators and patient advocacy groups

国家顶级研究人员、医生、监管者和患者维权团体

.

。

The initiative's goal is to help build a community that can break down barriers that can limit treatment options and isolate those living with a rare disease. Through our

该倡议的目标是帮助建立一个社区，打破可能限制治疗选择并孤立罕见病患者的障碍。通过我们的努力，

storytelling

讲故事

and

和

live events

现场活动

, we'll work to identify the most innovative scientific developments in the rare disease space and put a spotlight on the bottlenecks preventing them from getting to the patients who need them.

，我们将努力识别罕见病领域最具创新性的科学发展，并聚焦于阻碍这些成果惠及所需患者的瓶颈问题。

Becky Quick with KJ Muldoon. KJ, born with the rare disease CPS1, was the first known person receive a personalized CRISPR-based genome-editing therapy.

贝琪·奎克与KJ·马尔登。KJ出生时患有罕见的CPS1疾病，是已知第一个接受基于CRISPR的个性化基因组编辑治疗的人。

We'll bring you moving and inspirational stories about the individuals changing the way we think about rare diseases and offer a space where you can share your own rare disease journey with us. And we'll share perspectives from the most prominent investors in the space, highlighting where they see opportunities for healthy returns, and for transforming health care as we know it..

我们将为您带来那些改变我们对罕见疾病认知的个人的感人且鼓舞人心的故事，并提供一个空间让您与我们分享您自己的罕见病历程。我们还将分享该领域最杰出投资者的观点，强调他们在哪里看到健康回报的机会，以及如何变革我们所熟知的医疗保健。

Here's how we'll do it:

以下是我们的做法：

A

A

new weekly newsletter

新周刊通讯

bringing insights into the biggest headlines impacting the rare disease community, and the research being done today that will change the way we think about modern medicine forever.

为罕见病社区带来对影响最大的头条新闻的洞察，以及当今正在进行的研究，这些研究将永远改变我们对现代医学的看法。

Our on-air and digital coverage highlighting the individuals, companies and institutions working to improve the lives of millions of Americans living with a rare disease.

我们的电视和数字报道重点介绍了那些致力于改善数百万患有罕见病的美国人生活的个人、公司和机构。

Our first-ever

我们的首次

CNBC Cures Summit

CNBC治愈峰会

, a landmark event slated for March 3 in New York, bringing together the most influential investors, policymakers and leaders in the biotechnology space.

，这是一场定于3月3日在纽约举行的具有里程碑意义的活动，汇聚了生物技术领域最具影响力的投资者、政策制定者和领导者。

The truth is that the term rare disease is misleading. The odds are that almost all of us know someone who is impacted by a rare disease, and the millions who make up this community are more connected than we think. Every week scientists are finding new evidence that shows if you can figure out how to effectively treat one rare disease, there are countless others that can be treated using similar mechanisms.

事实是，“罕见病”这个术语具有误导性。几乎我们每个人都有可能认识受到罕见病影响的人，而数百万的罕见病患者群体之间的联系比我们想象的更加紧密。每周，科学家们都在发现新的证据，表明如果你能找到有效治疗一种罕见病的方法，那么就有无数其他疾病可以通过类似的机制进行治疗。

And advancements made in rare diseases are offering new hope for breakthroughs in everything from Alzheimer's, to cancer, and heart disease..

而罕见疾病的研究进展为从阿尔茨海默病到癌症和心脏病等一切疾病的突破提供了新的希望。

These are just a few of the themes we want to explore with CNBC Cures in the coming year. It's a journey we're on together, and together we can make a difference.

这些只是我们未来一年想要通过CNBC Cures探讨的几个主题。这是我们共同的旅程，齐心协力我们可以带来改变。

More information about SYNGAP1 can be found at

有关SYNGAP1的更多信息可以在

CURE SYNGAP1

治愈SYNGAP1

,

，

CHOP

切碎

,

，

NORD

北方

, and

，以及

Global Genes

全球基因

.

。