A Windfall Sustains Psychiatric Research
精神疾病研究喜獲意外金援
By Carl Zimmer and Benedict Carey

One day in 1988, a college dropout named Jonathan Stanley was visiting New York City when he became convinced that government agents were chasing in on him.
1988年的一天，大學中輟生強納森．史坦利造訪紐約時，開始認為自己是政府幹員追捕的對象。

For three days and nights raced through streets and subway tunnels. His flight ended in a deli, where he stripped. The police took him to a hospital, and he finally received effective treatment two years after getting a diagnosis of bipolar disorder.
整整三天三夜，他在街道、地鐵隧道內奔馳。一家熟食店是他逃亡的終點，他在那裡脫個精光。警察將他送醫，診斷他患有躁鬱症，於是他接受了兩年的有效治療。

“My son’s life was saved,” his father, Ted Stanley, said. When he himself was in college, he added, “those drugs didn’t exist; I would have had a nonfunctioning brain all the rest of my life.”
他的父親泰德．史坦利說：「我兒子得救了。」他說，他大學年代「還沒這些藥，只能大腦失能一輩子」。

The older Mr. Stanley, 84, who earned a fortune selling collectibles, created a foundation to support psychiatric research. “I would like to purchase that happy ending for other people,” he said.
現年84歲的史坦利靠出售收藏品致富，後來設立了一個基金會，贊助精神疾病研究。他說：「我想為其他人購買那個快樂的結果。」

And in July the Stanley Family Foundation donated $650 million to Broad Institute of MIT and Harvard, a research center to which he had earlier donated $100million. It was one of the largest private gifts ever for scientific research.
今年七月，史坦利家族基金會捐了6.5億美元給「美國麻省理工學院─哈佛大學博德研究所」，是歷來最大私人科學研究捐款之一，基金會過去即曾捐給這個研究中心一億美元。

It comes at a time when research into mental illness is sputtering. Despite decades of costly research, experts have learned virtually nothing about the causes of psychiatric disorders and have developed no novel drugs.
這筆捐贈是及時雨，精神疾病相關的研究正好用得上。數十年來，專家找出精神疾病原因的研究所費不貲，卻幾無進展，亦未開發出新藥。

The Broad Institute timed its announcement of the donation to coincide with the release of the largest analysis ever on the genetics of schizophrenia.
博德研究所特別選在一份報告公布之際宣布獲得這項捐款。這份報告是歷來從遺傳學角度研究精神分裂症的最大型分析報告。

The analysis, reported by the journal Nature, identified more than 100 regions of DNA associated with the disease. Many contain genes involved in just a few biological functions, like pumping calcium into neurons, that could help guide the search for treatments.
刊登於「自然」科學期刊的這份分析報告找到了與精神分裂症相關的上百個DNA區。許多區內的基因只有一些生物功能，如將鈣送入神經元，將可引導研究找出療方。

“For the first time, there’s a clear path forward,” said Eric Lander of the Broad Institute.
博德研究所的蘭德說：「這是第一次，前方有條明確的道路。」

Experts not affiliated with the institute characterized the research as a first step. “The signals they found are real signals, period, and that is encouraging,” said David B. Goldstein, a geneticist at Duke University in North Carolina. “But at the same time, they give us no mechanistic insight, no targets for drug development. That will take a lot more work.”
非屬博德的專家稱這項研究為第一步。北卡羅來納州杜克大學遺傳學家高士坦說：「他們發現的信號是真的信號。事實就是如此。這點令人相當鼓舞。但同時他們也未提供任何機械性的見解，沒有藥物研發的標靶。這需要做更多研究。」

Jonathan Stanley, now 48, cannot explain why he suddenly developed bipolar disorder at 19. All he knows is that his brain responded well to lithium. He was eventually able to return to college, complete law school and become a lawyer. “You’re talking to a guy who went from psychotic to normal with some pills,” he said.
現年48的強納森．史坦利無法解釋何以19歲時突然出現躁鬱症。他只知道他的大腦對鋰反應良好。他最後返回大學，唸完法律系，成為律師。他說：「在你眼前的，可是個服了些藥丸後精神從異常變成正常的傢伙。」

When scientists discovered psychiatric drugs like lithium in the mid-20th century, they did so mostly by accident. For years, they hoped figuring out the action of the drugs would help them understand the causes of the diseases. But they came up empty.
科學家廿世紀中期發現鋰等治療精神疾病藥物，多出自無意之間。多年來，科學家希望能找出這些藥物的機轉，藉以了解病因。結果是一場空。

Some researchers argued that a better strategy would be to find the genes involved in psychiatric disorders. This approach would give them new molecular targets for drugs they could test.
有些研究人員認為，找出造成精神異常的基因是更好的策略。這個方向提供他們新的分子標靶，可進行藥物測試。

The new paper in Nature is a culmination of an effort by the Broad Institute in conjunction with scores of other research groups. The consortium analyzed 37,000 people who had schizophrenia and 114,000 who did not. It found 83 regions of the genome linked to the disorder that had not been previously flagged, and confirmed 25 previously identified ones, bringing the total to 108.
發表在「自然」雜誌的新報告，是「博德研究所」與數十研究團體共同努力的成果。這個團隊分析3萬7千個精神分裂症患者與11萬4千個正常人，發現基因組中有83區是科學家從未標記但與精神異常有關的基因區，另外確認了原已標記的25區，合計共108區。

Recent research has found that mutations in the very same gene can cause a wide range of brain disorders, including autism, schizophrenia and epilepsy. “We have no idea at all about why that is, and the only way to find out is to do some hard biology – to find out not only which genes matter, but what about them matters,” Dr. Goldstein said.
最近的研究發現，同一基因突變可能引起許多大腦疾病，包括自閉症、精神分裂和癲癇。高士坦說：「我們對造成這些疾病的原因一無所知，尋找答案的唯一方法是進一步從事生物學研究，找出哪些基因有關，基因又如何作祟。」

The new study in Nature found that many risk variants clustered around specific body functions, like the immune system and calcium transmission in brain cells.
「自然」雜誌上的新研究發現，許多風險基因變體會聚集在特定的身體功能上，如免疫系統和腦細胞的鈣運送等。

To understand their underlying biology, Broad researchers plan to grow neurons with mutations in the genes they have found, to see how they differ from normal cells. They will engineer mutated mice to see how their brains are affected.
為了解潛在生物運作，博德的研究員計畫培養含有他們所發現基因突變的神經元，了解它們與正常細胞的不同。他們將透過基因轉殖培養突變老鼠，了解老鼠的大腦如何受影響。

These studies will be expensive, which is where the Stanley foundation comes in. Last year, after the death of his wife, Vada, Mr. Stanley considered what he would do with his fortune. He decided that his first gift to Broad Institute was not enough.
這些研究很花錢，史坦利基金會適時出現。去年泰德．史坦利的妻子瓦達去世後，他開始思考如何運用他的財富。他認為捐給博德的第一筆善款不夠。

“After I’m gone,” he said, “I just want the money to flow to them as it would if I was still alive.”
他說：「我只希望我死後，這些錢還能跟我生前一樣流向他們。」

原文參照：
http://www.nytimes.com/2014/07/22/science/650-million-psychiatric-research.html

2014-07-29聯合報/G5版/UNITEDDAILYNEWS 王麗娟譯 原文參見紐時週報十版右