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Genetics, In the News, Medicine and Society, Research, Science, Technology

A leader in the Human Genome Project shares tale of personalized medicine, from 1980 until today

A leader in the Human Genome Project shares tale of personalized medicine, from 1980 until today

2559447601_005b33ae7d_zEric Lander, PhD, warned the several hundred people who came to hear him speak on the Stanford campus earlier this week that he wasn’t giving a traditional data-packed scientific presentation.

Instead, the founding director of the Broad Institute and veteran of the Human Genome Project — who Google’s Eric Schmidt introduced — promised to tell a story, a yarn about, as he put, the biomedicine of the East Coast meeting the technological innovation of the West Coast. (He couched the statement and admitted that yes, the West Coast does have a bit of biomedicine.)

So here goes:

Once upon a time, 35 years ago, in a land ruled by punk rock and big hair, scientists worked hard to pinpoint the genetic cause of cystic fibrosis, a disease caused by a single mutation. It was slow, hard work, but they persevered and found the gene.

Wouldn’t it be wonderful to know all the human genes, some scientists speculated, buoyed by their preliminary success. Cancer could be vanquished. Genetic disorders a thing of the past. But getting to that point might take as long as 2,000 years.

Enter the Human Genome Project (HGP) in 1990. A collaborative effort of 16 research centers in six countries, the team “industrialized biology,” cranking out a code for the 3 billion base pairs that make up the human genome.

Of equal importance, the HGP was advocating the importance of public access to genetic material. It faced a challenge from a rival private company, Celera, who proposed creating a subscription database with the genetic information.

The HGP also had to contend with hype, Lander said: With a banner-headline, the New York Times had proclaimed in 2000 “Genetic code of human life is cracked by scientists.”

But really, the scientists had little more than a gigantic text — ATCGGCTATATAATCG — that Lander likened to the Rosetta Stone. By comparing it with the genomes of mice, dogs, rats, cats, dolphins and many other critters, scientists worldwide were able to decipher it piece by piece.

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Events, In the News, Medicine and Society, Stanford News

Panel on diversity calls for transformative change in society, courageous leadership from individuals

Panel on diversity calls for transformative change in society, courageous leadership from individuals

diversity-33606_1280The School of Medicine’s quest to boost all forms diversity stems from two distinct, yet related, imperatives, Dean Lloyd B. Minor, MD, told the 100-or-so students and faculty members at the second Town Hall on Diversity last evening.

First, it’s part of the school’s mission, Minor said. “We have an obligation, a responsibility to ensuring we’re promoting diversity in our society,” Minor said. “We do that through the students we admit, the faculty we hire, to the way we speak.”

But of equal importance: Without diversity, Stanford Medicine just wouldn’t be Stanford Medicine, Minor said.

“Imagine what we would be like if we had a group of monolithically thinking people,” he said. From a melting pot of backgrounds and opinions and personalities comes innovation, challenges and excellence.

To ensure this melting pot, Stanford Medicine must stand strong against a society that is perhaps even regressing in its views on race and bias, said sociologist Doug McAdam, PhD, one of two panelists who fielded questions from the audience and moderators Malcolm Pyles, president of Student University Minority Medical Alliance, and Julie Huang, president Biomedical Association for the Interest of Minority Students.

Everyone who hopes to make a change must leave their comfort zone, McAdam said. “These are not normal times,” McAdam  told the audience. “I think they call for us to step outside our [normal] roles.”

That means everyone must consider how they support — even through unconscious biases — the current system and take steps to counter it, he said.

Paula Moya, PhD, an associate professor of English, emphasized that the role of the university is different from the job of a budding researchers or doctor.

“The university has the obligation to make these topics of conversation,” she said. “Students have the responsibility to learn about history and how what you do on a daily basis affects the maintenance of pernicious ideas like race.”

Both panelists recently published books on race. McAdam is a co-author of Deeply Divided: Social Movements and Racial Politics in Post-War America, while Moya penned Doing Race: 21 Essays for the 21st Century and has another book coming out this year.

Previously: Intel’s Rosalind Hudnell kicks off Dean’s Lecture Series on diversity, The medical community and complicity: Our role in the Eric Garner case, Diversity is initial focus of new Stanford lecture seriesLloyd B. Minor, Stanford medical school’s dean, shares five principles of leadership and NIH selects Hannah Valantine as first chief officer for scientific workforce diversity
Photo by Nemo

Immunology, In the News, Medicine and Society, Pediatrics, Public Health, Stanford News

A discussion of vaccines, “the single most life-saving innovation ever in the history of medicine”

A discussion of vaccines, "the single most life-saving innovation ever in the history of medicine”

vaccine and syringeIn a recent, in-depth interview with KCBS Radio, now available online, Stanford immunologist Mark Davis, PhD, called vaccines “the single most life-saving medical innovation ever in the history of medicine” and called not vaccinating children a real danger.

Davis was interviewed on air for 30 minutes following the announcement that he’ll direct a new, $50-million initiative at Stanford, funded by the Bill & Melinda Gates Foundation, which aims to speed discovery of vaccines for some of the world’s deadliest infectious diseases, such as malaria, tuberculosis and HIV.

Davis, who directs the Stanford Institute for Immunity, Transplantation and Infection, harked back to the time when cemeteries were filled with the graves of young children who fell victim to diseases such as measles and mumps that were virtually wiped out with the advent of vaccines. In the pre-vaccine era, about half of all children died of infectious diseases that are readily preventable today, he noted.

“One day I wandered through Union Cemetery in Redwood City, which started around 1850,” he said. “What was telling about the earlier graves is how many graves you have where they are two large headstones for the mother and father and a lot of little headstones for the children who died in infancy from measles and mumps and all these diseases that had also vanished with childhood vaccination but that are now coming back because people say, ‘I’ve heard something bad about these vaccines. So we are not going to give them to our kid.’”

Parents who chose not to vaccinate their children “are putting your kid at risk and also putting other young children at risk, as children don’t get vaccinated for measles until they are one year old. So kids die. Older people – a population we study here at Stanford – don’t respond very well. Their immune system often deteriorates with age… So even if they had a measles shot in their youth, they might still be vulnerable. So if you don’t vaccinate your child, you are putting your kid at risk, anyone with an immune deficiency at risk, little babies at risk, old people at risk. It just shouldn’t be permitted.”

Measles, he noted, is a “very ambitious” virus that spreads through the air, surviving on droplets of water vapor, so coughing can readily spread the disease. As a matter of public health, the disease can be controlled through the principle of “herd immunity” – the idea that if most people are vaccinated, a disease will be less likely to move through the population, he said.

“So it’s not just about you and your child. It’s about society… If more and more people are not vaccinated, it gives a virus, like the measles virus, an opportunity to run through the population very quickly, which it does, and endanger many more people,” he told listeners.

As to whether California should require parents to vaccinate their children, Davis was adamant on the subject:

I wouldn’t want unvaccinated kids in a classroom with my kids. I think it’s a danger. These are decisions made by parents that could affect the health of their children for the rest of their lives… The government is totally correct to say you should not kill your child, you should not starve your child, you should not beat your child, and you should not deprive your child of vaccines.

Previously: With a Gates Foundation grant, Stanford launches major effort to expedite vaccine discovery, Infectious disease expert discusses concerns about undervaccination and California’s measles outbreak and Side effects of childhood vaccines are extremely rare, new study finds
Photo by NIH

Bioengineering, Ethics, Fertility, Genetics, In the News, Parenting, Pregnancy

And baby makes four? KQED Forum guests discuss approval of three-parent IVF in UK

And baby makes four? KQED Forum guests discuss approval of three-parent IVF in UK

newborn feet Scope BlogLast week, the U.K. House of Commons voted to legalize a controversial in vitro fertilization technique called mitochondrial donation, popularly known as the “three-parent baby” technique. The technique is intended for mothers who have an inherited genetic defect in their mitochondria – the fuel compartments that power our cells – and can help them from passing on the incurable disease that often entails years of suffering and ends in premature death.

Doctors replace the DNA from a donor egg with the mother’s DNA, use sperm from the father to fertilize it, then implant it into the mother’s uterus via IVF technology. The donor egg’s cytoplasm contains defect-free mitochondria and DNA from both parents. Proponents say the technique gives parents with mitochondrial disease the chance to have disease-free children, but critics say it brings us one step closer to the reality of genetically modified “designer babies.”

On Friday, Stanford law professor and biotechnology ethicist Hank Greely, JD, was among the guests on KQED’s Forum broadcast to discuss the issue. He’s in favor of the procedure, noting that when looking at genetic modifications, “the purpose, the nature, [and] the safety” should be considered. “There are some things that I think shouldn’t be done,” he said, adding that “things like this, which gives women who have defective mitochondrial DNA their only chance to have genetic children of their own… if the safety proves up… seems to be a good use.”

Previously:  Daddy, mommy and ? Stanford legal expert weighs in about “three parent” embryos and Extraordinary Measures: a film about metabolic disease
Photo by Sean Drelinger

Aging, In the News, Neuroscience, Research

The distinctly different brains of “SuperAgers”

The distinctly different brains of “SuperAgers”

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Scientists are gaining insights into the cognitive abilities of “SuperAgers” and why their memories are more resilient against the ravages of time than are other older people’s. ABC News reports today on new research:

The SuperAgers were picked to be studied because all were over age 80 and had the memory capability of a person 20 to 30 years their junior according to the study recently published in the Journal of Neurology.

To understand how SuperAgers managed to keep their mental ability intact, researchers performed a battery of tests on them, including MRI scans on 12 SuperAgers and post-mortem studies on five other SuperAgers to understand the make-up of their brains.

“The brains of the SuperAgers are either wired differently or have structural differences when compared to normal individuals of the same age,” Changiz Geula, a study senior author and a research professor at the Cognitive Neurology and Alzheimer’s Disease Center, said in a prepared statement. “It may be one factor, such as expression of a specific gene, or a combination of factors that offers protection.”

The article goes on to explain that participants’ unusual brain signature had three common components in comparison to normal people of similar ages: notably fewer tangles (a primary marker of Alzheimer’s disease), a thicker region of the cortex and a significant supply of a neuron called von Economo, which is linked to higher social intelligence.

Previously: What brain scans reveal about “super agers”, The secret to living longer? It’s all in the ‘tude and Healthy aging the focus of Stanford study
Photo by Fiona Shields

Cardiovascular Medicine, Emergency Medicine, In the News, Research, Women's Health

New test could lead to increase of women diagnosed with heart attack

New test could lead to increase of women diagnosed with heart attack

12192161504_34544b2f38_zSimilar numbers of men and women come to the emergency room complaining of chest pain, and similar numbers of men and women die from heart disease each year (in fact, slightly more than half are women), so why are only half as many women being diagnosed with heart attacks?

A study recently published in the BMJ and funded by the British Heart Foundation suggests that the reason for the difference lies in the diagnostic methods: blood tests. Researchers at the University of Edinburgh found that if blood tests are administered with different criteria for each gender, women’s heart attack diagnoses are much higher. Better tests could limit under-diagnosis and prevent women from dying or suffering from future heart attacks. (And women are more likely than men to die after suffering an attack; twice as likely in the few weeks afterward!)

Blood diagnostic tests measure the presence of troponin, a protein released by the heart during an attack. Previous research showed that men produce up to twice as much troponin as women, so Anoop Shah, MD, and fellow authors hypothesized that if different thresholds of troponin levels were used for men and women, it would correct the disparity.

The researchers administered two tests on patients complaining of chest pain, once using methods that are standard around the world, and then again using a highly sensitive troponin test and gender-specific thresholds. MNT reports:

When using the standard blood test with a single diagnostic threshold, heart attacks were diagnosed in 19% of men and 11% of women. However, while the high-sensitivity blood tests yielded a similar number of diagnoses in men (21%), the number of heart attack diagnoses in women doubled to 22%.

In addition, the researchers observed that participants whose heart attacks were only diagnosed by the high-sensitivity test with gender-specific diagnostic thresholds were also at a higher risk of dying or having another heart attack in the following 12 months.

This research included a little more than 1,000 subjects; the BHF is now funding a clinical trial on more than 26,000 patients to verify the results.

Photo by MattysFlicks

Applied Biotechnology, In the News, Patient Care, Technology

Building bodies, one organ at a time

Building bodies, one organ at a time

bioprinting muscle. jpg

If you’ve been to a geek or tech event like the annual Maker Faire that happens every spring here in the Bay Area, you’ve probably seen demonstrations of 3D printers that can spit out toys or jewelry.

What’s really interesting is how researchers and doctors are harnessing that technology to help their patients by making prosthetics for amputated arms, or replacements parts for damaged bones. A recent article in the San Jose Mercury News highlights this new frontier and features Stanford cardiologist Paul Wang, MD, who describes one of the biggest advantages of 3D printing:

“You can make things for tens of dollars rather than thousands of dollars,” said Stanford University professor Dr. Paul Wang, a cardiovascular and bioengineering expert who is among those studying the printers’ potential for prosthetics, replacement bones and other applications. “It’s totally opened up what’s possible.”

Printing prosthetics or bone substitutes using inorganic materials is just the beginning of how scientists hope to use 3D printing; many are trying to use the technology to print living tissue and organs. Doing so is a challenging endeavor – for starters, even relatively simple organs need networks of blood vessels that can constantly feed its cells – but several research teams are betting they can solve the puzzle:

University of Pennsylvania researchers say they’ve designed a way to print those [blood vessel] networks and a Russian company, 3D Bioprinting Solutions, has vowed this year to 3D-print a transplantable thyroid gland, which is laced with blood vessels.

Still other researchers are 3D-printing insulin-producing pancreatic tissues to help manage diabetes, viruses that can attack cancer cells and organ models that surgeons can practice on or that can be used to help design medical devices.

Stanford’s Wang, for example, has made a 3D-printed model of the heart along with a prototype of a tiny gadget he envisions one day could crawl though real hearts to gather information on the organ’s health or kill cells that damage it.

The field has the potential to be a financial windfall for companies that can bring a viable medical product to market, but one of the biggest hurdles is the regulatory process, which can stretch out over a decade or more for new devices. Still, as detailed in the article, proponents are “encouraged by the impact 3D printing already is having on health care” and remain optimistic about the future.

Previously: Countdown to Medicine X: 3D printing takes shapeCreating organ models using 3D printing3D printer in China makes tiny ear and 3D printer uses living cells to produce a human kidney
Photo of researcher printing muscle tissue by U.S. Army Materiel Command

Global Health, Health Policy, In the News, Infectious Disease

President Obama and Indian Prime Minister praise partnership that led to rotavirus vaccine

President Obama and Indian Prime Minister praise partnership that led to rotavirus vaccine

Barack_Obama_talks_with_Narendra_ModiDuring his three-day visit to India, President Barack Obama issued a joint statement with Indian Prime Minister Narendra Modi praising the “highly successful collaboration” that led to the availability of a newly developed Indian rotavirus vaccine, which is expected to save 80,000 children in India alone each year.

The vaccine was developed with support from the Indo-U.S. Vaccine Action Program, co-chaired since 2009 by Harry Greenberg, MD, senior associate dean for research at the Stanford School of Medicine. Greenberg was the lead inventor of the first-generation vaccine for rotavirus, a severe diarrheal disease that kills between 300,000 and 400,000 children each in the developing world.

“This is the VAP’s biggest accomplishment to date,” Greenberg told me from Taiwan, where he is attending a conference. “The program really helped support the development of a new safe and effective rotavirus vaccine from the start to finish. And it’s the first time ever that a new vaccine was developed in a less developed country by and for that country and became licensed.”

The vaccine initiative, funded by the U.S. Public Health Service and the Indian government, was created in 1987 to help advance the development of new vaccines of importance to India. The NIH manages research grants in the United States for the vaccine program.

“The VAP has been the most successful, continuous program we have with India,” Roger Glass, MD, PhD, director of the NIH’s Fogarty International Center, wrote in an email from India to top NIH officials. “It’s amazing to me that this little research project on rotavirus with Harry Greenberg and George Curlin (former deputy director of NIH’s Division of Microbiology and Infectious Diseases) has turned into a real product that is being launched and will be used.”

A low-cost version of the vaccine, known as Rotavac, is being manufactured in India and was launched into the marketplace on Jan. 23, Greenberg said. It was the result of an unusual team effort involving diverse multinational groups of investigators from 13 institutions seeking to create a vaccine that was not only safe and effective, but also affordable enough for use in India and other low-income countries, Greenberg said. The Indian government is negotiating to purchase the vaccine for public distribution. The vaccine also will compete in the private market against at least two other commercially available vaccines.

In the joint statement, the two world leaders pledged continued support for the vaccine program, and Greenberg, who recently stepped down from his chairmanship, made an argument for now focusing the attention of the vaccine partnership on respiratory syncytial virus (RSV), a potentially serious lung disease that is prevalent in children in India and in other regions as well.

“RSV is an incredibly important pediatric pathogen all over the world, and there is now potential for great progress,” Greenberg said. “I suggested to VAP that it think about RSV as a new target for research. It has a huge public impact and it may well be that there are great advances to be made in the near future. I think that idea resonated with the people. We will see.”

Previously: Life-saving dollar-a-dose rotavirus vaccine attains clinical success in advanced India trial and Trials, and tribulations, of a rotavirus vaccine
Photo courtesy of The White House

In the News, Infectious Disease, Pediatrics, Public Health

Infectious disease expert discusses concerns about undervaccination and California’s measles outbreak

Infectious disease expert discusses concerns about undervaccination and California's measles outbreak

3480352546_ab985b66a6_zStanford’s Yvonne Maldonado, MD, who heads up Lucile Packard Children’s Hospital Stanford infectious disease team, weighed in on California’s measles outbreak last week on KQED’s Forum program.

The state reported 59 confirmed measles cases following an outbreak at Disneyland in December and fueled by high rates of under-vaccination.

“Measles is one of the most infectious viruses in humans that we know of,” Maldonado said. Spread by tiny droplets, measles remains contagious in a room for up to two hours after an infected person has left, she said.

At first, the disease appears like a lot of childhood diseases with three primary symptoms, what doctors call the “3 c’s,” — cough, coryza (runny nose) and conjunctivitis (red, watery eyes). The disease also produces fever, the charactoristic rash and in rare cases, pneumonia or other complications.

“It is not a simple, easy disease to deal with,” Maldonado said.

All children should receive two doses of the vaccine, which is 99 percent effective at preventing the disease, Maldonado said.

Adults who are born after 1957 and do not believe they have had measles, or a vaccine, should also be checked. Although measles has been basically eliminated in the U.S., it is prevalent in other countries and under-vaccination  can lead to outbreaks, the researchers said.

Previously: Measles is disappearing from the Western hemisphere, Measles are on the rise; now’s the time to vaccinate, says infectious-disease expert and A look at the causes and potential cost of the U.S. measles outbreaks 
Photo by Dave Haygarth

Addiction, Health Policy, In the News, Pediatrics

To protect teens’ health, marijuana should not be legalized, says American Academy of Pediatrics

To protect teens' health, marijuana should not be legalized, says American Academy of Pediatrics

teen smoking Today, the country’s most prominent group of pediatricians issued a policy statement that opposes marijuana legalization and advocates for policies to help minimize the drug’s harmful effects on children and adolescents. The new statement, from the American Academy of Pediatrics, was written in response to recent research on adolescent brain development and the biology of addiction, as well as a changing national climate on marijuana laws.

I spoke with Stanford’s Seth Ammerman, MD, an adolescent medicine specialist and the lead author of the new statement and accompanying technical report. Ammerman studies substance-use issues in youth and also has extensive experience working with at-risk young people, in part through his role as medical director of the Adolescent Health Van run by Lucile Packard Children’s Hospital Stanford.

“The national trend is definitely toward more medical marijuana, and also toward legalization for adults,” he said. “This trend can definitely affect kids, so it was really important for the Academy to have a voice, to be working on a national conversation about this.”

During our conversation, Ammerman explained some of the latest research that has motivated the AAP’s stance against marijuana legalization:

In the past decade, we’ve learned that brain development doesn’t finish until one’s early to mid-20s, and substance use can alter the developing brain. There are a few ways we know this: One, there’s clear evidence that the younger you start using drugs regularly, the more likely you are to become addicted. This is true for alcohol, tobacco, and marijuana, among others. For those who put off substance use until their late teens or early 20s, addiction rates are significantly lower.

We also know that the developing brain is very vulnerable to substance use. One in 10 adolescents who use marijuana become addicted. That means that 90 percent won’t — which is the good news — but the problem is we can’t predict which 10 percent will develop addiction.

We also have a lot of research about the adverse effects of marijuana use. Heavy users fare worse in many ways: their cognitive levels fall, they are less likely to finish high school or attend college, and they tend to suffer more from depression. Most users are not heavy users, but again, we can’t predict who will fall into this category.

The AAP is also in favor of decriminalizing marijuana, replacing current criminal penalties with lesser criminal or civil penalties and drug treatment. This is an especially important step to reduce the long-term damage to educational and job opportunities that currently comes with marijuana arrests, Ammerman said, adding: “There is a significant problem of racial inequity associated with marijuana arrests: minorities are way over-arrested and their lives are messed up because of marijuana arrests. It’s a very important step to say we need to help kids, not punish them.”

Previously: Medical marijuana not safe for kids, Packard Children’s doc says, Pediatrics group calls for stricter limits on tobacco advertising and To reduce use, educate teens on the risks of marijuana and prescription drugs

Photo by mexico rosel

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