The new work is part of the growing field of proteomics, the study of proteins in their full relationship to other biological systems. Published in American Chemical Society (ACS) Journal of Proteome Research, the study [Identification of Novel Human Adipocyte Secreted Proteins by Using SGBS Cells] by Anja Rosenow, University of Maastricht (Netherlands) and other colleagues reveals that fat cells are part of the endocrine system and produce a variety of proteins as hormones.

Their research added 6 new proteins and 20 hormones (from a group known as adipokines) to the 80 proteins now known to be produced by fat cells. Although the biochemical pathways have not been fully established for these proteins, it is known that adipose (fat) cells play a role in the regulation (or deregulation) of the metabolism. Over the years virtually countless studies have linked obesity (too many fat cells) to a wide variety of illnesses including heart disease, diabetes, and cancer. This new research provides a different perspective to look at these links – fat cells as producers of regulatory and messaging hormones.

The picture that is emerging is of fat cells that are anything but passive repositories – they carry on a constant ‘conversation’ with other parts of the body in a system for managing the energy supply. When this system fails or behaves abnormally – as it does when people are obese – then many other systems are affected, leading in some cases to disease.

The CheckPoint.S system developed by the firm Omniperception (Surrey, UK) reckons on natural lighting being forever difficult to use for facial recognition. Instead, the new system uses its own lighting – near-infrared light emitted from the camera. Infrared light is invisible to the human eye and is somewhat less complicated to analyze (limited bandwidth) for specific biometric features.

Of course, it does require specialized software to use the infrared images. (Infrared images can be made visible to humans. The outlines of things are normal, but the lack of coloration, something like a black and white negative image, is strange to the eye.) The CheckPoint.S system has new algorithms to pick out facial features in their infrared reflection, and convert to those features to a biometric system that can be compared to a database of faces. Other software, developed by BAE Systems (UK) helps analyze face images that are moving or taken from an unusual angle.

The combination of controlled lighting with motion and angle correction helps make the facial recognition good enough to provide alerts in real time. It is not, yet, good enough for legal recognition. It could not be used to identify someone as being in a particular location in a court of law. This sort of precision is still the domain of closed circuit television (CCTV) and human eyeballs. What the CheckPoint.S system does do is provide an automated and almost immediate ‘first alert’ so that other systems (that is, people) can complete the recognition.

‘The thing that has plagued facial recognition for many years is the effect of lighting,’ OmniPerception’s CEO Stewart Hefferman told The Engineer. ‘Our systems operate in the near-infrared space rather than visual light.

The government indicated in its coalition agreement that it intends to introduce legislation to regulate CCTV. Hefferman said he would welcome regulation as a way of addressing public concerns about security systems and invasion of privacy.

[Source: The Engineer]

OmniPerception’s CheckPoint.S system was announced September 1, 2010 and will be immediately available.

Such questions are launching a new field of medicine: genetic risk intervention (or prophylactic risk reduction). If you’re a woman identified with a mutated BRCA1/2 gene, then studies show that over a lifetime you are 56% – 80% more likely to develop breast cancer than women without the gene. These are not long odds. Many women would prefer (or insist) that something be done. That something could be mastectomy (removal of the breasts) or a salpingo-oophorectomy (removal of the fallopian tubes and ovaries). Both are serious procedures with obvious personal implications. Nevertheless, some women are going to see them as justified against the odds of dying from cancer.

A new study, conducted by the University of Pennsylvania, School of Medicine (USA) and published in the Journal of American Medical Association (JAMA, September 1, 2010) indicates that this sort of intervention, specifically prophylactic surgery, works.

The study, which included 2,482 women with BRCA1 or BRCA2 mutations (determined between 1974 and 2008), was conducted at 22 clinical and research genetics centers in Europe and North America. The women were followed up until the end of 2009.

The researchers found that risk-reducing mastectomy was associated with a decreased risk of breast cancer in BRCA1/2 mutation carriers, with no breast cancer events occurring in women who underwent risk-reducing mastectomy during 3 years of prospective follow-up. “In contrast, 7 percent of women without risk-reducing mastectomy over a similar follow-up period were diagnosed with breast cancer,” the researchers write.

[Source: EurekAlert]

This result is not counter-intuitive, but it is not overwhelming. It’s an indicator that this kind of risk intervention has yet to come out of the margins of medical procedures. There are several important and difficult questions yet to be answered:

How accurate and reliable are the genome tests? They are improving, even as they become less expensive, but genome tests are far from infallible.

How certain are the links between having a mutated gene and developing the related medical problem? This is a difficult question because of the many variables that enter in to the steps between having a mutated gene and its expression in some form of disease or disability. Experiments and surveys show a correlation or even a causal relationship between specific genes and certain diseases, but in most cases the conditions for this linkage – the genetic and biochemical details – are unknown.

How effective are the prophylactic measures? The field of genetic risk reduction is so new that statistics are incomplete, at best. It’s almost certain, however, that no procedures will be 100% effective. The risk of failure will have to be part of the consideration.

What, if any, are the risks of interventions? Some of the intervention approaches, such as surgery, carry their own risks. Complications from removal of (any) organs are not uncommon. Beyond the medical procedures there are almost always social and psychological risks.

How much will intervention cost?

This last question – cost – goes to the heart of a common problem in modern medicine: There are many life-prolonging procedures but many of them are very expensive, far beyond the means of an average person and generally beyond the acceptance of health insurance programs. While obviously a mastectomy to prevent the occurrence of breast cancer is not the same as a ‘boob job’ (voluntary cosmetic surgery), it’s still ‘optional.’ Optional in this context will often mean affordable or not affordable. This kicks genetic risk intervention into the arena of rich versus poor, with all its social and political issues.

At the moment risk intervention is mostly defined by surgery, preventive chemotherapy, and lifestyle changes. In the future, interventions will also be carried out on the genome, pre-birth or as an adult. For now, however, our knowledge about links between various genetic markers, the path of disease development, and the measures that could be taken to prevent a disease is, to put it charitably, in its infancy.

Someday scientists and doctors may know enough about the causes of various genetically related diseases to be able to pin down the risk. But that isn’t today or anytime in the near future. Cancer, for instance, is still undergoing a research revolution as molecular biology seeks to discover the underlying organic chemistry. Those discoveries must include understanding how environment and lifestyle play a role in the expression of genetic potentials. Since there are many kinds of cancer and a world full of personal and environmental variables – an accurate and complete understanding of any one person’s risk is going to be difficult to achieve any time soon.

That won’t stop the development of genetic risk intervention. There will be a demand for the procedures, and there will be a market; but genetic risk intervention will undoubtedly be added to the list of controversial and yes, risky, new medical technologies.

The first is from Derek Lowe, blogger of In the Pipeline, one of those rare writers who is a technical specialist (in his case bio-medicine) and yet finds the right words, mostly without jargon, to express a complex field in a way most people can understand. It’s a short blog entry, so I’ll quote the whole thing:

Emily Yoffe at Slate has a very accurate piece up on just how hard it is to make progress against things like Alzheimer’s, Parkinson’s, and other neurodegenerative diseases. The contrast with the hopes of patients – and the hype often surrounding the initial discoveries – is painful.

And we’re back to that optimism/realism tightrope. On the one hand, I don’t see any reason why we shouldn’t be able – eventually – to stop such conditions in their tracks, or to keep them from starting in the first place. (Reversing the damage once it’s done, though, is much more of a stretch, to me). But on the other hand – sheesh, we really, really have a lot to learn about these things. The likelihood of any one discovery being the key breakthrough is small – nonzero, but small. So in the long term, I’m an optimist, but in the short term, well. . .every little bit helps, and most of the bits are going to be little.

That’s not the sort of news you want to give to someone suffering from these conditions, of course. That desire for encouraging news, along with plenty of other good intentions (and a few not-so-good-ones) leads to the cycles of hype that we’ve seen over and over. Stem cell research is a perfect example. There really are huge possibilities there, extraordinary ones. But our level of ignorance is also extraordinary. And to go out and make claims that we’re going to be able to cure X and reverse Y soon, based on our present knowledge, is just plain irresponsible.

But plenty of people do just that – politicians, headline writers, and others. And then people who only know what they see in the news wonder where things went wrong, and how come these wonderful cures haven’t arrived yet. It all makes explaining the real situation that much harder.

It’s not like the real situation is even all that terrible. As I said above, I really do think that these diseases – and many others – are eventually going to be treatable. No one likes that word “eventually”, though.

[Source: In the Pipeline]

Derek refers to the article by Emily Yoffe at Slate. If Derek gives the colloquial expression to the real nature of advancement in difficult areas of medical research (slow, careful, incremental progress), Yoffe’s article provides many of the details to current dilemmas. Well worth reading in its entirety, here’s a lead quote:

The disappointments are so acute in part because the promises have been so big. Over the past two decades, we’ve been told that a new age of molecular medicine—using gene therapy, stem cells, and the knowledge gleaned from unlocking the human genome—would bring us medical miracles. Just as antibiotics conquered infectious diseases and vaccines eliminated the scourges of polio and smallpox, the ability to manipulate our cells and genes is supposed to vanquish everything from terrible inherited disorders, such as Huntington’s and cystic fibrosis, to widespread conditions like cancer, diabetes, and heart disease.

Adding to the frustration is an endless stream of laboratory animals that are always getting healed. Mice with Parkinson’s have been successfully treated with stem cells, as have mice with sickle cell anemia. Dogs with hemophilia and muscular dystrophy have been made disease-free. But humans keep experiencing suffering and death. Why? What explains the tremendous mismatch between expectation and reality? Are the cures really coming, just more slowly than expected? Or have scientists fundamentally misled us, and themselves, about the potential of new medical technologies?

[Source: Slate]

Both of these writers are trying to express their frustration, tempered (mostly) by an understanding of the difficulties and realities that drive so many researchers to make so many near-empty promises. They are also aware that while the new worlds that are opened by molecular biology are probably the most fundamentally important we have encountered – we’re really still babes in the woods, stumbling from one tree to another. Their concern is that we quit pretending – or marketing – the work as if we had a mature understanding of the forest.

More definitely, the Kepler team announced the discovery of two Saturn-size planets in the same Kepler-9 solar system.

Kepler has already amassed about700 ‘candidate’ planets, with every expectation that there are many more to come.

Earlier in the week a European team working with the HARPS (High Accuracy Radial Velocity Planet Searcher) equipment at the European Southern Observatory in Chile reported discovery of an even smaller planet with a mass approximately 1.4 times that of Earth, orbiting a star (only) 127 light-years away. More spectacularly, this was just one of seven planets in a solar system, HD10180, located in the constellation Hydrus. Two of the planets, including the Earth-size(ish) planet still need confirmation, although there is a high probability of the finding.

With increasing sophistication in the instrumentation and analytical techniques, the number of exoplanets (planets outside our Solar System) is certain to grow rapidly. It’s obvious that there is no lack of supply. As one scientist put it (Douglas Lin quoted in the New York Times), “Planets are common, and their properties are diverse.”

The detection and analysis of the properties of the planets will eventually become the area of most improvement (and probably controversy). In many cases, determining the size, mass, orbit and order in the system is the easy part. Detection of atmosphere, geological makeup, and other physical properties will be based – at least for the time being – on equivocal data using methods of inference. At the moment, most of the exoplanets are automatically compared to those in our Solar System (Neptune-like, Saturn-like). Over time, it will become obvious that there are other categories of planets, some of which don’t fit descriptions in our solar neighborhood. Those and even odder planets will likely teach us the most about exoplanets.

As seems de rigueur these days, this reversal of accepted understanding is quickly translated (verbally) into potential applications.

In the future, he [Galembeck] added, it may be possible to develop collectors, similar to the solar cells that collect the sunlight to produce electricity, to capture hygroelectricity and route it to homes and businesses. Just as solar cells work best in sunny areas of the world, hygroelectrical panels would work more efficiently in areas with high humidity, such as the northeastern and southeastern United States and the humid tropics.

Galembeck said that a similar approach might help prevent lightning from forming and striking. He envisioned placing hygroelectrical panels on top of buildings in regions that experience frequent thunderstorms. The panels would drain electricity out of the air, and prevent the building of electrical charge that is released in lightning. His research group already is testing metals to identify those with the greatest potential for use in capturing atmospheric electricity and preventing lightning strikes.

[Source: EurkeAlert]

Verbally stepping into the realm of lightning is easy to do. After all, if water vapor really can carry a charge, and clouds where lightning forms are mostly water vapor, then it seems to follow that lightning must have something to do with water vapor. However, the study of lightning is old and fraught with unknowns. To this day many theories compete for how lightning forms. Hygroelectricity, in and of itself, is a long way from making a substantive contribution to that theory, much less provide a practical means for harnessing the electrical power of lightning. (It should be noted that while a bolt of lightning has enormous voltage, measured in millions of joules, it barely carries the kind of power needed to operate a 100 watt light bulb for 5.5 hours.)

The claim that the general charge of water vapor is in some way harvestable is even more…amorphous. As a presentation of findings and a blue-sky ideas for application, hygroelectricity is probably going to be interesting, but is likely to be challenged on many fronts. Why not? That’s how science works.

Given the state of the world’s need for electrical power and the struggle to find non-petroleum sources, no potential source is automatically ruled out. That puts findings like this one in a somewhat unusual category: Potential new approach, fully unproven. Another way of looking at it: High probability of impracticality, but we can’t afford not to run it to ground. In short, theory has problems with hygroelectricity, technical application even greater problems, but until proven worthless, it’s worth exploration.

Even this formulation is debatable, and no doubt plenty of scientists will argue that hygroelectricity isn’t worth the waste of research resources. However in the scientific process as it is today, if the Brazilians (or anyone else) can muster the funding, then the research will go on either until the approach runs out of steam or shows further potential.

It’s been known for quite some time, at least back to the early days of cosmonauts and astronauts in the 1960’s and 70’s, that there are two huge physical problems with extended living in space: Loss of bone and muscle mass due to weightlessness, and cumulative exposure to radiation, especially solar and cosmic radiation. A third problem generally ignored by Americans in space (NASA) but somewhat explored by the old Soviet space program is psychological: The negative effects of living in extreme close quarters for months on end in a very risky and hostile environment.

There have been many studies of all the problems (just throw any phrase like ‘muscle loss in space’ into a search engine), so it’s disconcerting to see a news release like “Astronauts muscles waste in space” (Marquette University, Wisconsin USA) that goes on about a new study as if it were something of a revelation. Worse yet is the tendency of credulous media to echo the revelation angle without the slightest effort to put it into context or weigh its significance.

It’s bad enough when science fiction wittingly (or unwittingly) ignores the existence of science fiction, or ignores that most consumers of such science fiction narratives are already well schooled in the major scenarios; but when serious science does this with scientific information…

My quarrel is with the handling of the study: Prolonged Space Flight-Induced Alterations in the Structure and Function of Human Skeletal Muscle Fibres, Journal of Physiology, July 26, 2010. (Credit the original scientists with a broader knowledge of the relevant literature, but that does not exculpate them from the handling of their work.) The study focuses on muscle fiber loss and uses real data gathered from biopsies of nine Space Station crew members who spent at least 45 days in space. It is, in fact, the first to look at the problem of muscle loss at the cellular level.

What the PR makes of it is:

This is the equivalent of a 30- to 50-year-old crew member’s muscles deteriorating to that of an 80-year-old. The destructive effects of extended weightlessness to skeletal muscle – despite in-flight exercise – pose a significant safety risk for future manned missions to Mars and elsewhere in the Universe.

[Source: EurekAlert]

Actually what was important about the study was in its conclusions:

An obvious conclusion is that the exercise countermeasures employed were incapable of providing the high-intensity needed to adequately protect fibre and muscle mass, and that the crew’s ability to perform strenuous exercise might be seriously compromised. Our results highlight the need to study new exercise programs on the ISS that employ high resistance and contractions over a wide range of motion to mimic the range occurring in Earth’s 1 g environment.

[Source: Journal of Physiology]

Reading somewhat between the lines – this was to say that NASA and other space agencies, which have been dealing with the effects of bone and muscle loss for decades, haven’t found an exercise, chemical, or psychological regime to overcome the problems. The study is saying, “Back to the drawing board folks or there won’t be any long-term space missions.” However, this is a scientific paper, not a policy statement; so verbal punches are pulled.

The PR handling – and especially the media handling – didn’t need to soften the blow. The context is important. The study is part of a body of evidence that says: Those who explore space – say Mars, for example – will return (if they return at all) with the strength of an 80-year old, or poisoned by solar radiation, or madly dysfunctional. Among all the other dangers in space, this is a reality the space agencies are loath to pass on to the public with any degree of amplification whatsoever. To most of the media, studies about difficulties in space are flotsam in the daily narrative, and so presented with little impact. This makes it more likely solutions to these pivotal problems (solutions which are bound to be expensive to discover and implement, if they can be found at all) will be under-prioritized and under-funded.

Graphene, a one atom thick sheet of pure carbon, is already one of the most promising of nanomaterials. Scientists are continuously expanding the knowledge of this ‘simple’ but remarkable material. One potentially important addition, which is presented in the July 30, 2010 issue of Science [Strain-Induced Pseudo–Magnetic Fields Greater Than 300 Tesla in Graphene Nanobubbles] was discovered – by accident – when in a lab experiment a graphene sheet was grown on the surface of a platinum crystal. A graphene sheet naturally aligns its carbon atoms in a hexagonal pattern. However, this pattern doesn’t align with the triangular shape of the platinum crystal surface. In effect, the underlying triangle shape of platinum crystal pulled or stretched the graphene sheet in three directions, putting it under strain. Here’s where the unexpected and most interesting results occurred: The strain causes the graphene to produce raised triangular bubbles about 4-10 nanometers across.

The bubble formation is interesting, but it was discovered by looking into the nanobubbles spectroscopically with a scanning tunneling microscope that electrons within the bubbles were separated into bands of quantized energy levels – the electrons occupy orbits with discrete energy values, called Landau levels. This is characteristic of electrons in a magnetic field. But there is no magnetic field in the graphene nanobubbles. There is some kind of a pseudo-magnetic field, and a strong one at that, running as high as 300 tesla, which in current laboratory equipment can only be produced in exceptional bursts. By comparison a medical MRI (magnetic resonance imager) operates at less than 10 tesla.

This behavior from stretching graphene was predicted, in theory, just last year. It’s rare that theory and later experiments match so well, so quickly. As Michael Crommie, professor of physics at the University of California Berkeley and lead author of the paper puts it:

“Theorists often latch onto an idea and explore it theoretically even before the experiments are done, and sometimes they come up with predictions that seem a little crazy at first. What is so exciting now is that we have data that shows these ideas are not so crazy,” Crommie said. “The observation of these giant pseudomagnetic fields opens the door to room-temperature ‘straintronics,’ the idea of using mechanical deformations in graphene to engineer its behavior for different electronic device applications.”

[Source: Nanotechnology Today]

The other research, published in Nature August 19, 2010 issue [Editor’s summary: Multiferroics made easy], involves a rather obscure and relatively dull material called europium titanate. Take some of this material, slice it only nanometers thick and place it over a substrate (surface) of another obscure material, dysprosium scandate (also an oxide), and presto: Just like the graphene sheet on a platinum crystal, the thin film of europium titanate is stretched by the crystalline shape of the dysprosium. As a result, it becomes both ferroelectric (electrically charged or polarized) and ferromagnetic (having a permanent magnetic field). Very few materials are both ferroelectric and ferromagnetic and in most of them the effect is quite weak. The europium titanate is stronger than any current material by a factor of 1000, which makes it much more interesting to exploit for both properties.

This new approach to ferromagnetic ferroelectrics could prove a key step toward the development of next-generation memory storage, superb magnetic field sensors and many other applications long dreamed about. But commercial devices are a long way off; no devices have yet been made using this material. The Cornell experiment was conducted at an extremely cold temperature – about 4 degrees Kelvin (-452 Fahrenheit). The team is already working on materials that are predicted to show such properties at much higher temperatures.

[Source: EurekAlert]

Both of these research tracks explore what is loosely called ‘stretching’ – it’s really more like ‘conforming’ as one molecular structure is forced to take on a different shape by another underlying molecular structure – although the effect does tend to pull the target material apart like stretching. What Michael Crommie called it – straintronics might be more accurate (and colorful). Whatever it’s called, straining or stretching nanomaterials is producing some very interesting and potentially very useful new properties that will likely be exploited in the next few years.

This is not a new idea; the precursors go back to the 1850’s and discussions about the laws of thermodynamics. The total entropy (heat-death) of the universe has always been one of the ‘logical’ options and is often contrasted with the infinitely recurring universe (sort of Big-Bang cycle). There are other cosmological variants about the fate of the universe. However, new evidence that provides confirmation of one variant or another is important – if not necessarily conclusive.

The paper is based on work with data from the Kepler Space Telescope and ground-based telescopes that measure the effects on the light coming from distant galaxies as it passes through Abel 1689, the largest cluster of galaxies in the known universe. The gravitational pull of this cluster is so massive that light from the distant galaxies is bent (or refracted) in much the same way as light passing through an optical lens like a magnifying glass. By measuring the properties of this refraction and plugging the data into complex mathematical models, a great deal can be learned:

“The precise effects of lensing depend on the mass of the lens, the structure of space-time, and the relative distance between us, the lens and the distant object behind it,” explains Priyamvada Natarajan, a co-author of the paper. “It’s like a magnifying glass, where the image you get depends on the shape of the lens and how far you hold it from the object you’re looking at. If you know the shape of the lens and the image you get, you can work out the path that light followed between the object and your eye.”

Looking at the distorted images allows astronomers to reconstruct the path that light from distant galaxies takes to make its long journey to Earth. It also lets them study the effect of dark energy on the geometry of space in the light path from the distant objects to the lensing cluster and then from the cluster to us. As dark energy pushes the Universe to expand ever faster, the precise path that the light beams follow as they travel through space and are bent by the lens is subtly altered. This means that the distorted images from the lens encapsulate information about the underlying cosmology, as well as about the lens itself.

[Source: EurekAlert]

To produce the kind of refraction of light seen in the models, the elusive quantity known as dark energy – and the universe – must be expanding in a single plane – a flat universe. Dark energy is considered to be the driving force behind the expansion. Without some other kind of dynamic (which also requires evidence), the expansion of the universe will continue to accelerate and go on indefinitely. However at some point, the materials of the universe including matter, dark matter, and dark energy are so pulled-apart that they no longer exhibit gravitational attraction. They are devoid of all energy and are therefore at terminal cold (absolute zero temperature). This is known as the ‘heat death’ of the universe.

It’s a bleak outcome, if impossibly remote from the human perspective of time. The research may be one more nail in this cold-coffin theory.

First and foremost, this is an important finding for the study and treatment of specifically facioscapulohumeral muscular dystrophy or FSHD, one of the most common forms, as it reveals a particular gene, repeated at the end of chromosome 4 (4q35), is the key to triggering onset of FSHD.

It is also, as an article in the New York Times puts it (August 19, 2010: Reanimated ‘Junk’ DNA is Found to Cause Disease), the surprising activation of a ‘dead’ gene. Dead in the sense that the areas of junk DNA are non-coding, meaning they’re not used to create protein.

Actually, not so surprising. The areas of ‘junk DNA’ comprise about 98% of the human genome, which in itself is a curiously high percentage. It shouldn’t be surprising that with all that material, from time to time it is discovered that – lo and behold – one of the junk genes does something.

In this case, the role of the gene is quite specific and the configuration is complicated. This gene, located at the end of chromosome 4, is often repeated – a trailer of ‘dead genes.’ Chromosome 4 has for decades been observed as a trouble spot, but these ‘dead genes’ were ignored. In the recent study however, it was discovered that people who have 10 or less copies of the gene were much more likely to develop FSHD. (In fact, people with more than 10 copies never get the disease.) It was also learned that this gene doesn’t create protein (normally) but it is always transcribed (copied by RNA), the first step in using a gene – only it falls apart shortly after transcription. If, however, a middle section of the chromosome 4 DNA, called poly (A), is present the transcribed genes are stabilized and they go on to be expressed (creating proteins) that contribute to the development of FSHD.

This is an unusually specific set of circumstances, but it does illustrate that while the mass of ‘junk DNA’ may be inert (biologically) most of the time, it is premature with our current state of knowledge to assume that all of these genes remain inactive at all times. It’s becoming apparent that in all likelihood there are more ‘dead genes’ linked to various diseases, just as there are studies showing that some of the ‘junk DNA’ is involved in gene regulation.

Does this all add up to finding that ‘junk DNA’ isn’t junk? Not necessarily. At this point, most biologists still feel that we carry an enormous amount of vestigial and inactive DNA. Of course, with discoveries like the ones involving muscular dystrophy or coronary artery disease, if even a few percent of the ‘junk DNA’ turns out to be either active or potentially active under certain conditions; these areas of our genome may still become an important chapter in the book on DNA coding.

The bigger lesson, Dr. Collins [Director of the United States National Institute of Health] said, is that diseases can arise in very complicated ways. Scientists used to think the genetic basis for medical disorders, like dominantly inherited diseases, would be straightforward. Only complex diseases, like diabetes, would have complex genetic origins.

“Well, my gosh,” Dr. Collins said. “Here’s a simple disease with an incredibly elaborate mechanism.”

[Source: New York Times]