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his goal was to reshape the direction of psychiatric research to focus on biology, genetics and neuroscience so that scientists can define disorders by their causes, rather than their symptoms.

While the Diagnostic and Statistical Manual of Mental Disorders, or D.S.M., is the best tool now available for clinicians treating patients and should not be tossed out, he said, it does not reflect the complexity of many disorders, and its way of categorizing mental illnesses should not guide research.

senior figures in psychiatry who have challenged not only decisions about specific diagnoses but the scientific basis of the entire enterprise. Basic research into the biology of mental disorders and treatment has stalled, they say, confounded by the labyrinth of the brain.

Stanford University researchers affirmed that women with mothers and sisters who carry one of the BRCA gene mutations but who aren't carriers themselves don't have an especially heightened risk of breast cancer.

The findings run counter to an influential 2007 study, which found that such women could have as much as a five-fold higher risk of developing the disease as the general population, even if they tested negative for the two genetic mutations known as BRCA1 and BRCA2.

a negative BRCA test didn't necessarily mean women had escaped the risk associated with the mutations, which significantly raise a woman's risk of breast and ovarian cancer. Some women who test positive opt for prophylactic surgery to remove their breasts or ovaries.

Researchers at the University of Pennsylvania have developed a personalized immune therapy that redirects T cells to seek and destroy a type of glioblastoma, or brain tumor.

About 30 percent of glioblastoma patients have tumors with a mutation in a growth receptor called EGFR.

"Patients that have that kind of mutation tend to have a worse prognosis than patients who don't have it."

there are limitations here that warrant consideration. Observational data can be very confounded, meaning that unmeasured factors might be the actual cause of the harm. Perhaps people who drink also smoke tobacco. Perhaps people who drink are also poorer. Perhaps there are genetic differences, health differences or other factors that might be the real cause

There are techniques to analyze observational data in a more causal fashion, but none of them could be used here, because this analysis aggregated past studies — and those studies didn’t use them.

when we compile observational study on top of observational study, we become more likely to achieve statistical significance without improving clinical significance. In other words, very small differences are real, but that doesn’t mean those differences are critical.

Soon after my arrival at the Transgender Center, I was struck by the lack of formal protocols for treatment. The center’s physician co-directors were essentially the sole authority.

At first, the patient population was tipped toward what used to be the “traditional” instance of a child with gender dysphoria: a boy, often quite young, who wanted to present as—who wanted to be—a girl. 

Until 2015 or so, a very small number of these boys comprised the population of pediatric gender dysphoria cases. Then, across the Western world, there began to be a dramatic increase in a new population: Teenage girls, many with no previous history of gender distress, suddenly declared they were transgender and demanded immediate treatment with testosterone. 

The technique is being hailed as a breakthrough in understanding how the trillions of complex cells in a body are descended from a single egg.

The human body has around 40 trillion cells, each with a highly specialised function. Yet each can trace its history back to the same starting point - a fertilised egg.

The molecular tape recorder developed by Prof Shendure's team at the University of Washington in Seattle, US, is a length of DNA inserted into the genome that contains a series of edit points which can be changed throughout an organism's life.

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Scientists may have found a way to put off some conditions of aging, according to a study in which they postponed or even prevented such afflictions as cataracts and wrinkle-inducing fat loss in mice by removing cells that had stopped dividing.

Most young, healthy cells divide continuously in order to keep body tissues and organs functioning properly, but eventually stop splitting—a state called senescence—and are replaced by others. Senescence occurs throughout life, but people's ability to clear such cells from their bodies decreases with age, leading to a buildup.

"You can take a cell that belongs to a patient and engineer it to be an attack cell."

This won't do. The "anti-science" charge has little to with morality. When someone like Rick Perry - an avowed anthropogenic climate change and evolution denialist - is accused of rejecting science, it's an attack on Perry's epistemological beliefs rather than moral values. Even though the scientific consensus is clear on both questions, Perry refuses to accept both. By rejecting well-supported scientific truths on, say, theological grounds, he is implicitly denying that the scientific method (rather than, say, theological reasoning) is the best way to determine truths about the natural world. That's what being "anti-science" is.

Being pro-science may mean being committed to the idea that advancing scientific knowledge is good for the world, sure, but that scientific knowledge doesn't always say we should try to control the natural world. Science is at its core is a reasoning process - we arrive at certain conclusions through experiments, peer evaluation, etc. So if the best scientific evidence suggests "humans do bad things when they mess with the natural world in fashion X" then the science is telling us not to mess with the natural world in fashion X! Indeed, scientific findings often serve as evidence in debates over the environmental impact of new technology, oftentimes on both sides. There's nothing intrinsic to scientific epistemology or practice that implies a moral commitment to increasing human control over the natural world or to widespread commercial use of the new technologies its discoveries enable

Another way to put it is that scientists have a goal of advancing human knowledge. They often do that with particular ends in mind (e.g., cancer scientists want to cure cancer), but there's no reason to believe that end is always increasing human control. It could be that a scientist might want to demonstrate the dangers of certain technologies or the limits of human ability to successfully interfere with the workings of the natural world. 

Scientists have identified about 10 million SNPs within our three billion nucleotides. But an entire genome sequencing — looking at all three billion nucleotides — would cost around $3,000; the tests I took examined fewer than a million SNPs.

“Imagine if you took a book and you only looked at the first letter of every other page,” said Dr. Robert Klitzman, a bioethicist and professor of clinical psychiatry at Columbia. (I am a graduate student there in his Master of Bioethics program.) “You’re missing 99.9 percent of the letters that make the genome. The information is going to be limited.”

the major issue, experts say, is that the causes of most common diseases remain unknown. Genes account for just 5 to 20 percent of the whole picture.

cience is being turned against itself. For decades, its twin ideals of transparency and rigor have been weaponized by those who disagree with results produced by the scientific method. Under the Trump administration, that fight has ramped up again.

The same entreaties crop up again and again: We need to root out conflicts. We need more precise evidence. What makes these arguments so powerful is that they sound quite similar to the points raised by proponents of a very different call for change that’s coming from within science.

Despite having dissimilar goals, the two forces espouse principles that look surprisingly alike: Science needs to be transparent. Results and methods should be openly shared so that outside researchers can independently reproduce and validate them. The methods used to collect and analyze data should be rigorous and clear, and conclusions must be supported by evidence.