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Showing posts with label human genome. Show all posts
Showing posts with label human genome. Show all posts

Tuesday, August 30, 2016

Donie's Ireland daily news BLOG update

17% increase in claims involving uninsured drivers in Ireland

WARNING OF INCREASED PREMIUMS AS MORE CLAIMS RECORDED DURING FIRST SEVEN MONTHS

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OVERALL, THERE WERE 688 CLAIMS RECORDED IN DUBLIN, UP 78 ON THE 610 CLAIMS SEEN DURING THE FIRST SEVEN MONTHS OF 2015

The number of motor insurance claims involving uninsured or untraced drivers jumped by 17% between January and July, according to new figures.
The data show there were 1,644 claims involving such drivers during the first seven months of 2016, up by 235 versus the 1,409 claims lodged during the same period a year earlier.
The Motor Insurers’ Bureau of Ireland (MIBI) figures show 42% of such claims were made in Dublin with the capital also showing a big spike in general claims made compared to last year.
Overall, there were 688 claims recorded in Dublin, up 78 on the 610 claims seen during the first seven months of 2015. The next highest number of claims were in Cork (129) and Galway (92).
Between January and July, claims increased in 20 counties, with the largest percentage change being in Roscommon, which recorded an increase of 500% as the number of claims rose from 2 to 12.
A decline in four counties.
Four counties experienced a decline in the number of claims, the largest drop being in Limerick which had 80 claims, down from 95 in 2015.
The number of claims in Clare and Kildare were the same across both years.
MIBI, which was established by the Government and the insurance industry in the 1950s, pays out approximately €60 million a year on claims involving uninsured or untraced drivers. David Fitzgerald, the body’s chief executive, warned that the jump in claims involving such drivers would likely impact on premiums in the future.
“An increase of 17% represents a significant jump in the number of claims being lodged. It showcases the increased pipeline of payments facing the MIBI. While no sums are yet attached to these claims, unfortunately more claims generally means higher levels of payments coming from the MIBI and ultimately, that will impact on motor insurance premiums,” he said.

Hiqa reports critical of HSE disability services

PEER ABUSE, FAILURE TO INVESTIGATE COMPLAINTS AND MISMANAGEMENT AMONG FINDINGS

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HIQA INSPECTORS FOUND THAT SOME STAFF FELT THEY WERE BEING TROUBLEMAKERS IF THEY RAISED CONCERNS ABOUT THE QUALITY OF DISABILITY SERVICES.

Major patient safety concerns have been raised in a series of critical reports into HSE-run disability services around the country.
Inspectors from the Health Information and Quality Authority (Hiqa) noted incidents of peer-to-peer abuse, misadministration of medications and failures to adequately report complaints of alleged mistreatment following visits to a number of large disability centres in Cork, Kilkenny and Donegal.
During an unannounced visit to the St Raphael’s Campus in Youghal, Co Cork, it was found that a resident had not been given adequate food and nutrition for a period of more than 18 hours.
Those working at the centre said there were not enough members of staff on duty on that particular day to get the resident out of bed and feed them appropriately.
The Youghal campus, which had court-applied restrictive conditions placed on its registration last year due to previous negative findings by Hiqa, also came in for criticism for incorrect use of seizure and antimicrobial medicines which could have “potentially catastrophic” or even fatal impacts on patients.
The facility is currently in the middle of a winding-down process and is due to close next year, but inspectors recorded an ongoing “lack of clarity for staff around the reporting of allegations of abuse”.
One resident alone had made 15 complaints of physical abuse by one of his peers over the space of less than a month, but none of these incidents were properly investigated, inspectors said.
Serious failings in governance and management were identified at an unnamed disability service in Donegal during another unannounced inspection in March.
Despite initially being told by the person in charge that there had been no “incidents, suspicions, allegations or investigations of abuse” there since 2013, Hiqa officials later found that such allegations had indeed been made and investigations were instigated.
Inspectors said the person in charge subsequently handed over documents relating to the alleged incidents of abuse, and they concluded that “there was a significant risk to the safety of residents as a consequence of seriously inadequate safeguarding arrangements in the centre”.
Speaking to inspectors, some members of staff felt they were being seen as “troublemakers” if they highlighted problems with safeguarding measures or instances of possible mistreatment.
Elsewhere, Hiqa was not satisfied that the requisite improvements had been made to service provision at St Patrick’s Centre in Kilkenny which was taken over by the HSE in October 2015 following “significant failings” by the previous care provider.
Incidents of peer-to-peer aggression had continued since the handover, and there were still “significant concerns regarding the lack of suitable governance and management arrangements to oversee the quality and safety of care provided to residents” which had “direct negative outcomes for residents”.
A smaller community-based facility for six residents in Westmeath failed to demonstrate compliance for any of the nine standards tested during a visit in March, and the two-story house had no overall evacuation plan in the event of a fire.
It was also found to be deficient as regards safeguarding measures, as the member of staff designated to deal with complaints told inspectors they were “not aware that they had been assigned this responsibility” and said they did not have time to carry out managerial roles alongside their frontline duties.
The findings came in a raft of 11 inspection reports released by Hiqa on Monday. Other centres visited managed to demonstrate more consistent compliance with regulations, and there was evidence of a good quality of life for residents within these services.
The State’s health watchdog also provided an update on two autism care centres which are operated by Gheel Autism Services on behalf of the HSE after it took over control from the Irish Autism Society following negative inspection outcomes published in July.
Inspectors found that significant improvements had been made in safety and quality of life of residents at both premises.

Ireland’s retail sales up by 12.6% for July 2016

BIG JUMP IN CAR SALES ACCOUNTS FOR THE OVERALL BOOST?

Image result for Ireland's retail sales up by 12.6% for July 2016    Image result for Ireland's retail sales up by 12.6% for July 2016

THE VOLUME OF RETAIL SALES INCREASED BY 12.6% IN JULY WHEN COMPARED WITH JUNE AND THERE WAS AN INCREASE OF 6.3% IN THE ANNUAL FIGURE.

If car sales are excluded, there was a decrease of 0.5% in the volume of retail sales in July when compared with June and there was an increase of 2.7% in the annual figure.
The sectors with the largest month on month volume increases were motors which were up 12.5%, furniture and lighting, up 5.3%, and books, newspapers and stationery, up 2%.
The sectors with the largest monthly decreases were clothing, footwear and textiles which were down 2.5 per cent.
Other retail sales are down 2.4% and food, beverages and tobacco are down 0.9%.
There was an increase of 4.5% in the value of retail sales in July when compared with June and there was an annual increase of 3.9% when compared with July 2015.

The genetics of Type 2 Diabetes is in a mess

A RECENT STUDY SHOWS WHY GENETIC ADVANCES IN MEDICINE ARE SO CHALLENGING.

Image result for The genetics of Type 2 Diabetes is in a mess Image result for The Human Genome Project was both a spectacular success Image result for The Human Genome Project was both a spectacular success

The Human Genome Project was both a spectacular success and a frustrating disappointment. It has revolutionized the science of biology and spawned a multi-billion dollar industry. It has alsofailed to deliver on the ambitious promise that genome science will, as President Bill Clinton stated 16 years ago, “revolutionize the diagnosis, prevention and treatment of most, if not all human diseases.”
But hype springs eternal. The human genome is now old news; today scientists study tens or even hundreds of thousands of human genomes. We now hear promises about the imminent benefits of personalized medicine, medicine that is tailored to an individual’s unique genetic make-up. President Barack Obama hopes that “10 years from now we can look back and say we have revolutionized medicine,” from cancer to Alzheimer’s. To achieve this, the White House has launched another large research effort: the Precision Medicine Initiative, which will devote hundreds of millions of dollars to advance the use of genomics and other cutting-edge science in medical practice.
It’s an admirably ambitious vision, but in 10 years we shouldn’t expect to look back and see a revolution. Scientifically, this is the right direction — over the long-term, genomic discoveries will certainly drive major medical advances. But it’s going to be a long slog. The major challenges that lie ahead are laid bare in a recent genetic study of Type 2 diabetes. This study, published inNature earlier this month, shows that the genetics of diabetes is a mess — and it illustrates why the big promises of genetic medicine won’t be realized any time soon.
Known mutations account for only 10 percent of the estimated genetic contribution to the disease. After more than a decade of large, high-tech studies, the genetic basis of diabetes remains, for the most part, unexplained.
Type 2 diabetes is one of the major diseases that biomedical scientists hope to conquer with genomics. It’s one of our most common diseases — the Centers for Disease Control and Prevention estimates that nearly 10 percent of all Americans have it. Diabetes is also expensive: It accounts for an estimated $176 billion in medical costs each year. And while most of us have the impression that diabetes is something you prevent with a healthy diet and exercise, the disease also has a strong genetic component.
By understanding the genetics of diabetes, we hope to combat the disease in three big ways. First, we’ll be able to identify people with a high genetic risk, and make them the focus of prevention efforts. Second, we might recognize and specifically treat different molecular forms of the disease — different people likely have different underlying genetic mutations, which means that not all diabetics respond the same way to a one-size-fits-all therapy. And third, genetics will help us understand the disease’s molecular underpinnings, and guide us toward better treatments that directly target those molecules. If we achieved all three goals, we would indeed revolutionize the treatment of diabetes.
And so, for the past decade, researchers have conducted large genetic studies, involving at first thousands, and now tens of thousands of diabetics. The results have been somewhat disappointing: Though researchers have linked dozens of mutations with diabetes, we’re clearly still missing much of the picture. Known mutations account for only 10 percent of the estimated genetic contribution to the disease. After more than a decade of large, high-tech studies, the genetic basis of diabetes remains, for the most part, unexplained.
To find the missing mutations in diabetes, scientists of two large international research consortia performed a deeper DNA analysis of a large set of study subjects. Earlier studies used a lower-cost, coarse-grained scan of the subjects’ DNA. These scans only had the power to detect mutations that are relatively common in the population. In this most recent study, the researchers decided to survey the subjects’ genomes much more comprehensively.
The hypothesis behind this approach is that diabetes is a bit like Leo Tolstoy’sfamous claim about unhappy families: Each case of diabetes is affected by genetics in its own way. In other words, although diabetes is a common disease, its genetic component might not be caused by a set of relatively common mutations. Rather, each person’s genetic risk could be the result of distinctly different, and relatively rare, mutations.
If that were true, this new, more comprehensive study should have turned up many of these hypothetical rare mutations. But that’s not what the researchers found. After analyzing the DNA of over 100,000 diabetics and healthy volunteers, the researchers largely re-discovered the same set of common mutations that had been previously found. They discovered few rare mutations.
The hypothesis behind this approach is that diabetes is a bit like Tolstoy’s famous claim about unhappy families: Each case of diabetes is affected by genetics in its own way.
Why is this bad news? Because it means that finding the genetic risk factors for diabetes is going to be very hard. If rare mutations were important genetic drivers of diabetes, then the task of understanding diabetes genetics would likely be easier. Rare mutations are expected to have larger effects, and therefore a person’s individual genetic risk for the disease would come down to just one or a few mutations. If we knew what mutations to look for, we could easily test for them in a routine, clinical genetic test.
Mutations that are common in the population, on the other hand, tend to have smaller effects on disease. (Mutations with large effects tend not to become common, thanks to natural selection.) This latest study suggests that the genetic basis of diabetes involved the combined effects of many mutations, each one only making a small contribution. These small contributions are statistically challenging to detect in a scientific study, and much harder to evaluate in a clinical genetic test. This is why the study authors argue that “Genome sequencing in much larger numbers of individuals than included in the current study are needed.” As one scientist put it: “Once dubbed ‘a geneticist’s nightmare,’ diabetes seems to be living up to its reputation.”
Fortunately, with today’s technologies, very large genetic studies are becoming feasible. Obama’s Precision Medicine Initiative proposes to put together a study cohort of one million Americans over the next several years. And given the hundreds of billions of dollars that diabetes costs America each year, such large studies, if successful, are clearly worth the expense.
The challenging genetics of diabetes and other common diseases, however, means that the benefits of such studies will mostly arrive in the long term. We are laying an important foundation for the medicine of the future — but people also need care today. Fortunately, even without the genetics, we understand a lot about how to prevent diabetes though lifestyle changes. Investing in large efforts to help people change their diet and exercise habits may not sound as exciting as high-tech genetic medicine. But, just as we shouldn’t overhype the near-term prospects of genetics, we shouldn’t undersell the value of the effective care we can provide today.

Putting lemon wedges in your drink is actually a bit gross

BACTERIA IS APPARENTLY RIFE THERE?

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BARTENDER ASKS WOULD YOU LIKE A LEMON SLICE WITH YOUR COLD ALCOHOLIC BEVERAGE? YOUR REPLY “THAT SOUNDS BLOODY MARVELLOUS” – STICK IT RIGHT IN. THANKS KIND SIR FOR SUPPLYING ME WITH ALCOHOL AND A LOVELY BIT OF CITRUS FRUIT THAT PERFECTLY COMPLIMENTS MY BEVERAGE.

There’s nothing wrong with that Friday night (tad overly enthusiastic) exchange right? Wrong. According to a study published in the Journal of Environmental Health the lemons and limes given out at bars are actually rife with all kinds of bacteria. That’s just not what you want. Plus we just found out that water bottles can be pretty rank too. Can someone just cut us some slack.
The research team swabbed lemon slices that were on their drinks at 21 different restaurants, and they discovered that almost 70% of the samples had some sort of microbial growth, including 25 different microbial species. Ewwwww. But also I wonder if they got to expense all those drinks. Not a bad life despite the germs.
“The microbes found on the lemon samples in our investigation all have the potential to cause infectious diseases at various body sites, although the likelihood was not determined in this study. Restaurant patrons should be aware that lemon slices added to beverages may include potentially pathogenic microbes.”
Wow – way to ruin the humble lemon guys. Elle magazine spoke to Philip Tierno, PhD, a clinical professor of microbiology and pathology at New York University School of Medicine and author of The Secret Life of Germs who explained why they can be so gross.
“People are touching the lemon in your glass, handling it, cutting it, placing it in a container or a cup, or a glass; and then picking up those slices at a later point in time and dropping them into a drink and putting them on the rim of a glass. You can easily see how those lemon slices and lemon wedges can be contaminated.”
But here at Cosmopolitan we deal with solutions, not problems. What you’re gonna need to do is eyeball your bartender as he prepares your drink, and then send it back if you see the bartender put their fingers all over the rim of the glass or use a dirty rag to clean the glass. Thanks for the tips Tierno.

“Weather bomb” could shed new light on mysteries of the Earth’s interior

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THE RARELY-DETECTED S-WAVES FROM A “WEATHER BOMB” STORM MAY HELP SCIENTISTS UNCOVER THE EARTH’S HIDDEN STRUCTURE

Researchers from the University of Tokyo have uncovered a rarely detected type of seismic wave deep inside of the Earth stemming from a “weather bomb,” an extratropical storm that is small, fast-developing and possesses central pressure that rapidly increases in intensity. The findings could help scientists map out the hidden, deeper structure of the Earth.
Despite their rapidly intensifying central pressure – typically more than one millibar per hour for the course of 24 hours – weather bombs are fairly small storms. However, their fast-moving nature creates steep pressure gradients, leading to the formation of strong winds.
In the current study, the weather bomb occurred between Greenland and Iceland in 2014, creating a pressure pulse that spread to the seafloor and transformed into microseismic waves – tremors deep inside of the Earth that stem from natural phenomena – that rippled through both the surface and interior of the Earth.
Microseismic waves are detectable as both surface and body waves. Although it is typically not possible for surface waves to be observed past the coast, body waves make their way deep into the Earth’s interior and can be detected by land-based seismic stations, making them ideal for deconstructing the internal structure of the Earth.
Body waves can be split into two categories: P-waves and S-waves. P-waves contain particles that move parallel to the direction of the waves’ motion, whereas the particles in S-waves move perpendicular to the direction of the waves’ motion. While seismologists frequently detect P-waves, the detection of S-waves by seismic stations is not a common occurrence.
Thanks to the Atlantic weather bomb, the current study is one of the first ever to detect S-waves, a feat that was accomplished through the use of 202 wave-detection stations. These stations were able to trace the movement and direction of the microseismic waves created by the weather bomb using “Hi-net arrays.”
Hi-net arrays work by taking the information gathered by seismometers that pick up the “noise” created by microseismic waves as they move through the various layers of the Earth and transforming it into electronic data that can be charted and analyzed in the lab.
The successful detection of rare S-waves provides seismologists with a novel method of uncovering the Earth’s deeper structure. S-waves are of particular use due to the fact that they are more sensitive to liquids than other waveforms, meaning scientists can use them to determine areas of the Earth’s interior where solids turn into liquids.
“This [study] demonstrates the connection of the solid Earth to the atmosphere and ocean climate system,” said Peter Bromirski, a geophysical oceanographer who co-authored a perspective on the current study. “New discoveries of any kind are always exciting, particularly when multiple fields of study are involved.”  

Monday, September 10, 2012

Donie's Ireland news BLOG Monday


ISME survey shows 49% refusal rate for Irish businesses bank credit

ISME Chief Executive Mark Fielding has described the survey results as “alarming”, and indicated the issue of bank credit remains a serious problem for the economy.    
The Irish Small and Medium Enterprise organisation claims that 49% of small and medium firms have been refused bank credit in the last three months.
It reveals a slight improvement on the 54% in the previous quarter.
Their Quarterly Bank Watch Survey, conducted in the week ending September 7, shows that demand for bank credit was steady at 38% in the same period.
The association has called on the Government “to immediately demand full and complete disclosure from the bailed out banks on lending to SMEs”.
They siad that the report backs up the recent report from the Central Bank “that access to bank finance is being denied to viable but vulnerable businesses”.
The survey attracted 862 responses.

Stigma still persists on mental health in Ireland

       

New figures have shown that lack of understanding of mental health problems is still fuelling stigma and preventing people from getting the support they need.

The findings from St Patrick’s Hospital in Dublin show that one-fifth of people surveyed believe that those suffering from mental health problems are of below average intelligence.
In addition, nearly one-in-three respondents said they would not willingly accept someone with a mental health problem as a close friend.
The findings were published to coincide with World Suicide Awareness Day.
The survey also found that nearly two-in-three people would discriminate against hiring someone with a history of mental illness on the grounds that they may be unreliable and 42% felt that undergoing treatment for a mental health problem is a sign of personal failure.
St Patrick’s Hospital CEO Paul Gilligan said the findings highlight the critical requirement to reduce stigma and barriers to accessing mental healthcare.
“It’s also essential that those looking for help are provided with adequate high quality services they can trust in.”
The survey was conducted among 300 members of the public.
The results show that exposure to mental health problems is very widespread, with 40% of respondents revealing that a close member of their family has been treated for a mental health issue.
Tom Maher, head of clinical servics at St Patrick’s, stressed that we need to prioritise the promotion of mental health literacy among the general population. The hospital is organising a free series of mental health information evenings for families and carers.
Meanwhile, the HSE is marking World Suicide Prevention Day by gathering together over 130 participants from various agencies and orgnisations at a conference in Dublin today to share evidence-based best practice on suicide prevention.
The HSE says the conference will discuss oppprtunities for better coordination of suicide prevention initaitives.
The meeting will highlight a research study carried out by the Headstrong organisation and UCD recently which shows that rates of suicidal thoughts and self-harm were higher in young adults who did not seek help or talk about their problems.
The HSE says early intervention programmes in GP practices and hsotpitals targeted at people at risk will help prevent suicides in Ireland.

Transgender legislation pledged by Irish Government soon

   
Joan Burton said legislation to provide for the legal recognition of transgender people is to come before a joint Oireachtas committee
Legislation to provide for the legal recognition of transgender people would be put before the Joint Oireachtas Committee on Social Protection in coming weeks, the Minister Joan Burton has said.
Speaking at the opening session of the fourth European Transgender Council meeting in Dublin today she said the enacting of such legislation was a priority for her, though she was unable to give reassurances on a number of key issues to trans people.
Transgender delegates from across Europe are in Dublin for the council meeting, which continues through the weekend and is hosted by the Transgender Equality Network Ireland (Teni).
It is 15 years since the Free Legal Advice Centres (Flac) issued legal proceedings to assert the right of transgender woman Lydia Foy to legal recognition of her gender. Though the High Court ruled against her in 2002 it ruled in her favour, in new proceedings, in 2007.
Michael Farrell, senior solicitor with Flac, who led Ms Laffoy’s case, said it was was “unacceptable” that Ireland remained the only country in Europe where there was no legal recognition of transgender people.
Legislating for recognition of transgender people was “not an option for the Irish Government”, given its acceptance in 2010 that it was in breach of the European Convention of Human Rights, he said.
“The jurisprudence of the European Court of Human Rights is clear and unambiguous. Trans people are legally entitled to recognition in their own gender,” he said. The absence of such legislation means trans people cannot have their birth certificate reissued to indicate their true gender.
Ms Burton said her legal section had received guidance from the Attorney General’s office in the past week.
Delegates voiced concerns that the legislation may include a compulsory medical examination before trans people could access legal recognition and that married trans people would have to divorce their spouse before accessing recognition. This is due to the constitutional protection of marriage.
Asked about the question of “forced divorce”, Ms Burton said the Attorney General’s report “deals specifically with that issue and of course for the groups it is an issue, but the Irish Constitution and its position on marriage is a matter of fact”.
Ms Burton faced protest from eight members of the audience who held up placards, with “Shame on you Minister Burton”, “Same Old Story” “Not Good Enough” and “15 years and still waiting” as she finished speaking.
Broden Giamrone, director of Transgender Equality Network Ireland, said legislation was needed that respected the community and did not pathologise trans people or tear their families apart.
Senator Katherine Zappone said if Ireland introduced a legislation incorporating a forced divorce clause, “requiring an individual to choose between their family and their identity we will inevitably see more legal challenges, costing more money to the State”.

Molecular milestone: scientists unravel the human genome

      

The 46 human chromosomes, where DNA resides and does its work. Each chromosome contains genes, but genes comprise only 2 percent of DNA. 

In a milestone for the understanding of human genetics, scientists just announced the results of five years of work in unraveling the secrets of how the genome operates.
The ENCODE project, as it is known, dispensed with the idea that our DNA is largely “junk,” repeating sequences with no function, finding instead that at least 80 percent of the genome is important.
The new findings are the latest in a series of increasingly deep looks at the human genome . Here are some of the major milestones scientists have passed along the way.
1. An understanding of heredity, 1866
The realization that traits and certain diseases can be passed from parent to offspring stretches back at least to the ancient Greeks, well before any genome was actually decoded. The Greek physician Hippocrates theorized that “seeds” from different parts of the body were transmitted to newly conceived embryos, a theory known as pangenesis. Charles Darwin would later espouse similar ideas.
What exactly these “seeds” might be was destined to remain a mystery for centuries. But the first person to put heredity to the test was Gregor Mendel, who systematically tracked dominant and recessive traits in his famous pea plants. Mendel published his work on the statistics of genetic dominance in 1866 to little notice. [Genetics by the Numbers: 10 Tantalizing Tales ]
2. Chromosomes come to light, 1902
But the painstaking work of cross-breeding pea plants wouldn’t languish for long. In 1869, Swiss physician Johannes Friedrich Miescher became the first scientist to isolate nucleic acids, the active ingredient of DNA. Over the next several decades, scientists peering deeper into the cell discovered mitosis and meiosis, the two types of cell division, and chromosomes , the long strands of DNA and protein in cell nuclei.
In 1903, early geneticist Walter Sutton put two and two together, discovering through his work on grasshopper chromosomes that these mysterious filaments occur in pairs and separate during meiosis, providing a vehicle for mom and dad to pass on their genetic material.
“I may finally call attention to the probability that the associations of paternal and maternal chromosomes in pairs and their subsequent separation … may constitute the physical basis of the Mendelian law of heredity,” Sutton wrote in the journal The Biological Bulletin in 1902. He followed up with a more comprehensive paper, “The Chromosomes in Heredity ” in 1903. (German biologist Theodor Boveri came to similar conclusions about chromosomes at the same time Sutton was working on his chromosome discovery.)
3. What genes do, 1941
With the link between chromosomes and heredity confirmed, geneticists delved deeper into the mysteries of the genome. In 1941, geneticists Edward Tatum and George Beadle published their work revealing that genes code for proteins , explaining for the first time how genes direct metabolism in cells. Tatum and Beadle would share half of the 1958 Nobel Prize in Physiology or Medicine for their discovery, which they made by mutating bread mold with X-rays.
4. DNA structure decoded, 1953
Now scientists knew that DNA was the molecule responsible for carrying genetic information. But how? And what did this molecule look like?
The pieces of the puzzle were beginning to come together throughout the 1940s. In 1950, biochemist Erwin Chargaff figured out that the nucleotides, or building blocks, of DNA occur in specific patterns. These nucleotides are represented by four letters (A, T, G and C), and Chargaff was the first to discover that no matter the species, A and T always appeared in equal measures, as did G and C.
This discovery would be crucial to James Watson and Francis Crick, the scientists who would describe the structure of DNA for the first time in 1953. Combining Chargaff’s work with studies by Maurice Wilkins and Rosalind Franklin and other scientists, the pair worked out the iconic double helix shape of DNA, a discovery Crick reportedly called “the secret of life.”
5. Human Genome catalogued, 2001
With DNA becoming an increasingly open book, scientists began to tackle genomics, the study of the complete genetic library of organisms. In 1977, researchers sequenced a complete genome for the first time, starting with a rotund little bacteriophage known as Phi X 174. By 1990, science was ready to start something much bigger: a complete cataloguing of the human genome. [Animal Code: Our Favorite Genomes ]
The result was the Human Genome Project, a 13-year international effort that resulted in the complete sequencing of the human genome in 2001. (More detailed analyses of the initial sequence continued after the release of this first draft.) The project revealed that humans have about 23,000 protein-coding genes, a mere 1.5 percent of the genome. The rest is made up of what has been called “junk DNA ,” including fragments of DNA that don’t code for any proteins and chunks of genes that regulate other portions of the genome.
6. Junk DNA de-junked (2012)
Now, the ENCODE project has looked deeper into this “junk DNA” than ever before. And junk it is not: According to more than 30 research papers published today (Sept. 5) in a number of journals including Science and Nature, at least 80 percent of the genome is biologically active, with much non-protein-coding DNA regulating nearby genes in a complex dance of influence. [Mysteries of Human Evolution ]
The findings reveal that the genetic basis of many diseases may not be in protein-coding genes at all, but in their regulatory neighbors . For example, genetic variants related to metabolic diseases pop up in genetic regions that activated only in liver cells. Likewise, regions activated in immune cells hold variants that have been associated with autoimmune disorders such as lupus.
“These breakthrough studies provide the first extensive maps of the DNA switches that control human genes,” study researcher John Stamatoyannopoulos, associate professor of genome sciences and medicine at the University of Washington, said in a statement. “This information is vital to understanding how the body makes different kinds of cells, and how normal gene circuitry gets rewired in disease. We are now able to read the living human genome at an unprecedented level of detail, and to begin to make sense of the complex instruction set that ultimately influences a wide range of human biology.”