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Genetics, In the News, LGBT, Medicine and Society, Research, Sexual Health

Sex biology redefined: Genes don’t indicate binary sexes

Sex biology redefined: Genes don't indicate binary sexes

14614853884_3d6d1d662a_zImagine being a forty-six-year-old woman pregnant with her third child, whose amniocentesis follow-up shows that half her cells carry male chromosomes. Or a seventy-year-old father of three who learns during a hernia repair that he has a uterus. A recent news feature in Nature mentioned these cases as it elaborated on the spectrum of sex biology. People can be sexed in a non-straightforward way and not even be aware of it; in fact, most probably aren’t. As many as 1 person in 100 has some form of “DSD,” a difference/disorder of sex development.

The simple scenario many of us learned in school is that two X chromosomes make someone female, and an X and a Y chromosome make someone male. These are simplistic ways of thinking about what is scientifically very complex. Anatomy, hormones, cells, and chromosomes (not to mention personal identity convictions) are actually not usually aligned with one binary classification.

The Nature feature collects research that has changed the way biologists understand sex. New technologies in DNA sequencing and cell biology are revealing that chromosomal sex is a process, not an assignation.

As quoted in the article, Eric Vilain, MD, PhD, director of the Center for Gender-Based Biology at UCLA, explains that sex determination is a contest between two opposing networks of gene activity. Changes in the activity or amounts of molecules in the networks can sway the embryo towards or away from the sex seemingly spelled out by the chromosomes. “It has been, in a sense, a philosophical change in our way of looking at sex; that it’s a balance.”

What’s more, studies in mice are showing that the balance of sex manifestation can be shifted even after birth; in fact, it is something actively maintained during the mouse’s whole life.

According to the Nature feature, true intersex disorders, such as those from divergent genes or the inability of cellular receptors to respond to hormones, yield conflicting chromosomal and anatomical sex. But these are rare, about 1 in 4,500. For the 1/100 figure, they used a more inclusive definition of DSDs. More than 25 genes that affect sex development have now been identified, and they have a wide range of variations that affect people in subtle ways. Many differences aren’t even noticed until incidental medical encounters, such as in the opening scenarios (the first was probably caused by twin embryos fusing in the woman’s mother’s womb; the second by a hormonal disorder).

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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

Aging, Health Costs, Medicine and Society, Ophthalmology, Research, Stanford News

Factors driving prescription decisions for macular degeneration complex – and costly

Factors driving prescription decisions for macular degeneration complex - and costly

5197694152_fbbfe73c21_zFor the last decade or so of her life, my grandma was basically blind. Her eyes, like those of many seniors, suffered from macular degeneration, a progressive disorder that affects the macula, a small spot near center of the retina critical for clear vision.

She lived her last years in a nursing home in Iowa and I honestly don’t know what drugs, if any, she took for this condition, much less how much they cost.

But multiplied by millions (macular degeneration is the most common cause of visual impairment in older adults), the costs are a big deal. That’s why Stanford researchers set out to understand why doctors would prescribe one drug, ranibizumab (let’s call it r) at a cost of $2,000 a dose over bevacizumab (b), which runs $50 a dose.

They published their findings in Health Affairs today.

Both drugs are equally effective and have similarly severe side effects. And, according to a 2011 report, if all Medicare doctors had prescribed b rather than r in 2011, the system would have saved $1.1 billion.

Stanford researchers hypothesized that Medicare physicians — who face a financial incentive to prescribe more expensive drugs — would be more inclined to prescribe r than Veterans Affairs physicians, who don’t have the same incentive.

Instead, as health economist Kate Bundorf, PhD, told me, it’s much more complex.

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Health Costs, Medicine and Society, Medicine X, Technology

The power of social media: How one man uses it to help amputees get prosthetics

The power of social media: How one man uses it to help amputees get prosthetics

Stanford’s Medicine X is a catalyst for new ideas about the future of medicine and health care. This new series, called The Engaged Patient, provides a forum for some of the patients who have participated in or are affiliated with the program. The latest installment comes from Medicine X ePatient Joe Riffe.

Allie - smallWe’re all familiar with social media. We spend our days updating our Facebook statuses, tweeting our latest attempt at being funny, or using Instagram to show off our last meal. Social media is an excellent way to connect with friends and family; some people have even gained celebrity status all through the social-media movement. Social media has sparked revolutions as well. The Occupy Wall Street Movement, for example, was largely driven by the power of a hashtag.

This power is also accessible to patients to start a David versus Goliath type war. I use the power of social media to help amputees get prosthetics, and in this piece I’ll tell you two of these stories. The first is about Allie; the second is a recent story about my own battle to get a prosthetic.

I met Allie in the hospital after a mutual friend asked me to meet her and her family to show them that being an amputee doesn’t mean you can’t live the life you want to live. I immediately connected with Allie. I wanted to be her mentor; she the Luke to my Obi Wan. Allie didn’t have insurance at that time, and I couldn’t stand the thought of this young girl, just starting her life, not having access to the best prosthetics available. I explained to her that with the right prosthetic, anything is possible.

A local prosthetic company had gotten to Allie before the prosthetist I use was able to meet with her and her family. They convinced the family that due to Allie’s lack of insurance she would have to settle for the best prosthetic she could afford – and not the best available like she deserved. Allie suffered on this prosthetic for months. The ill-fitting socket and knee didn’t suit the lifestyle of an active 20-year old.

After nearly a year of suffering, Allie found herself with insurance and made her way to the prosthetist I use. He quickly saw the need for her to have access to the best technology available and had his team start creating a prosthetic for her.

There are many hoops to jump through when trying to get a prosthetic leg. The biggest obstacle is that advanced technology comes with a hefty price tag. Luckily, the office she goes to now knows how to get through these hoops fairly quickly.

Allie made it though this process fairly quickly and received a letter from her insurance company promising to pay for the advanced prosthetic. Then, they began the stall tactic. They waited months, delaying the payment required to order the prosthetic that Allie so desperately needed.

That was when I came in. With one tweet – just one tweet – I was able to expedite the payment for her prosthetic limb. Why does this company prevent amputees from returning to their lives by approving high-quality prosthetics then not paying for them, I wrote to my hundreds of followers. A few days later I was greeted on Facebook by the photo above: Allie with her new leg.

Unadulterated joy!

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Events, In the News, Medical Education, Medicine and Society

Intel’s Rosalind Hudnell kicks off Dean’s Lecture Series on diversity

Intel's Rosalind Hudnell kicks off Dean's Lecture Series on diversity

STANFORD, CA - JANUARY 23, 2015--Rosalind Hudnell ? Chief Diversity Officer, Global Director of Education and External Relations at Intel Corporation, gives a speech on the Fresh Perspectives on Diversity at Dean?s Lecture Series on Friday, January 23, 2015, at Stanford School of Medicine at Berg Hall. ( Norbert von der Groeben/ Stanford School of Medicine )

In 1971, just three years after the death of Martin Luther King, Jr., ninth-grader Lloyd B. Minor was bussed from his white Little Rock, Arkansas neighborhood to a formerly black school. What he saw there stuck in his memory: Plaster peeled off the walls, and the library had only a few tattered books.

“What I had been told was separate but equal was certainly separate, but in no way was it equal,” Minor said. “That caused me then to see that diversity is a moral imperative.”

Now, as dean of Stanford’s School of Medicine, Minor, MD, has made diversity the initial focus of the newly launched Dean’s Lecture Series.

“Diversity is at the core of everything we do,” Minor said at the inaugural lecture last Friday. “To be a highly performing organization, we have to embrace diversity because… creativity doesn’t come from a monolithic, stereotypic focus.”

The featured speaker at the first lecture was Rosalind Hudnell, chief diversity officer and global director of education and external relations at Intel.

“I’m so jealous of the representation of women and people of color in medicine,” Hudnell told the audience. Nearly every child wants, maybe just for a moment, to be a doctor, inspired by the respect the profession commands in society and its portrayal on popular television shows from Marcus Welby, M.D. to Grey’s Anatomy, she said. By contrast, about 40 percent of college students drop out of engineering after the first year.

In 2013, Intel’s approximately 100,000 employees were 76 percent male and 86 percent white or Asian, and Hudnell said Intel has been working hard to diversify its workforce. The company recently captured headlines by pledging $300 million over three years to recruit and retain more minorities and women.

“We’ve spent the last decade building capability,” Hudnell explained. “Then, we stepped back and said, ‘So, why aren’t we better?’”

The key is to set goals and hold everyone accountable, she said. Now, Intel is committed to reaching market representation across its workforce by 2020. Hudnell admitted she isn’t quite sure how that’s going to happen, but she’s confident it will. “It’s time to use our capability and lead.”

And in that regard, she believes Stanford’s School of Medicine has an advantage. “I think, quite frankly, you are incredibly blessed and lucky to have a leader who truly gets it,” Hudnell commented. “It really does take a consistent, resilient leader… They must have a personal belief in their soul and in their DNA that diversity is the ultimate goal.”

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In the News, Medicine and Society

The medical community and complicity: Our role in the Eric Garner case

The medical community and complicity: Our role in the Eric Garner case

die-in photo2Last week, more than one hundred Stanford graduate and medical students gathered to commemorate Martin Luther King, Jr. Day and remember the lives of Mike Brown and Eric Garner. On a white board that proclaimed “Black Lives Matter,” attendees wrote their thoughts. On the board, I wrote “Keep the conversation going,” and as part of that effort I’d like to examine one instance where the practice of medicine is deeply entwined, for good and bad, in the movement for equality.

Over the past several months, the role of racial bias in policing practices and the judicial system has been the subject of extensive discussion and protest, but what hasn’t been adequately discussed is the lesson in this for medical professionals. A catalyzing event for our national discussion has been the video footage of police use of a chokehold and its role in the death of Garner. However, there is a second video from the same incident that warrants scrutiny, particularly from the medical community.

The second video follows the minutes after Garner’s death. After prolonged moments of police prodding and the encouraging of his motionless handcuffed body to cooperate, emergency medical services arrive on the scene. In gloved hands and comforting voices, they appear to very briefly check for a pulse and then encourage Garner, unconscious, to cooperate with getting onto a stretcher.

In the background an observer asks why Garner is not receiving CPR, and a police officer replies, “He’s still breathing.” Given the video, it’s unclear whether or not Garner was actually breathing. What is clear is that progressing from a witnessed loss of consciousness, he eventually entered respiratory arrest followed by cardiac arrest in the presence of multiple medical and police personnel trained in CPR. To perform CPR in such an instance is standard of care and may have saved his life, but basic life support was not performed. Why? And I wonder: Would CPR have been administered if Garner had been white?

There were likely a complex mixture of assumptions, prejudices, and biases that led these health-care workers to not act to save Garner. There is no evidence of overt malice, but race, socio-economics, and deference to the authority of the police all likely played a role in influencing the medics’ actions, or lack of action. As they arrived on the scene, did the medics believe that CPR would just delay the inevitable? Were they worried of offending the authority of the police and exposing the police’s failure to initiate CPR? As medical professionals, we must learn from this incident and begin to recognize and dismantle our own prejudices and biases, wherever we may find them.

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In the News, Medicine and Society, Parenting, Pediatrics, Pregnancy, Stanford News

Grandparents update their baby skills at children’s hospital

Grandparents update their baby skills at children's hospital

2057241787_0f89a0276f_zThe past century has been flooded with trends and new information surrounding pregnancy, birth, and infant care. From doctors Spock, Lamaze, and Bradley in the ’50s, to the promotion of new technologies such as epidural anesthesia and formula feeding in the ’60s, through various iterations of the natural birth movement in the 70’s and 80’s… From the licensing of non-hospital midwives in the 90’s, to the boom in doulas in the 2000s, through the proliferation of maternity apps in this decade, the “right way” to bring a baby into the world has evolved.

To get grandparents updated on their baby knowledge, Lucile Packard Children’s Hospital sponsors a “Grandparents’ Seminar” as part of its course offerings. As a recent San Francisco Chronicle article notes,”Hospitals commonly offer classes in labor, lactation and baby CPR. But adding grandparents to the mix is a modern twist. It used to be that grandparents didn’t go to classes for advice. They dispensed it.”

The two-hour course covers infant safety, sleep, and feeding. Though most of the class participants were conscientious and up-to-date when they were raising their own children, some accepted practices have changed – babies are now swaddled tightly like burritos, laid to sleep on their backs without pillows, and exclusively breastfed when possible. Umbilical cords are cleaned with water instead of alcohol, the specifications for car seats have changed dramatically, and there is a potentially overwhelming array of new products on the market. Medical communities are increasingly becoming aware of perinatal mood disorders, and informing patients about practices that were once “fringe” – like co-sleeping and intervention-free birth.

The course also touches on the complex emotional issues that come with becoming a grandparent, and offers advice on etiquette – which the course instructor, Marilyn Swarts, a labor and deliver nurse and nurse manager quoted in by the Chronicle, sums up with “Seal your lips.” Parents want their parents involved with the baby, but they also want autonomy and to incorporate modern care practices. Indeed, many people who take the course learned about it through their children.

Swarts has been teaching the course for the nearly ten years it has been offered. In a 2009 interview with a grandparenting blog, she said:

It’s so hard because we’re still in the parent mode and just want to help our children, but they must learn for themselves. Better to ask them: What do you think would be a good solution? I want grandparents to empower the new parents, help them believe they’re the best parents for their child and make them feel comfortable and confident in their new roles.

Related: Classroom catch-up for expectant grandparents
Photo by surlygirl

Chronic Disease, Medicine and Society, Mental Health

Boldly Me: Bay Area non-profit helps build self esteem in those who feel different

Alanna headshot

Alanna Powell

Boldly Me is the dream-come-true of founder Alanna Powell, who was diagnosed with Alopecia Universalis as a toddler and consequently spent the majority of her life completely bald. Powell has built upon her own experience with shaky self-confidence and self-doubt to support and inspire those who “feel different.”

I recently had the chance to talk with Powell, who founded the Fremont, CA-based organization in 2009. Boldly Me programming, which aims to improve the psychological health and self-esteem of both kids and adults, takes place around the Bay Area: The Fremont Unified School District has widely adopted it, and Powell reports that Stanford physician Joyce Teng, PhD, MD, is advocating for it to reach Palo Alto schools.

Boldly Me offers a variety of classes and assembly presentations teaching self-compassion and communication, starting with one called “Me and my thoughts.” Programming also includes activities like hula dancing, baton twirling, and arts and crafts, and community events showcase the kids’ talents and celebrate individuality. The company bases its approach on cognitive and dialectical behavioral therapy, and it has volunteer psychologists and doctors on its advisory board.

image

Kids dance hula at a Boldly Me event

While the core of the program is creating personal compassion and self esteem to enable internal resistance to external reactions, it also approaches the problem from the outside by educating peers and parents. However, Powell says that programming directed at parents is often met with defensiveness, so Boldly Me starts with the kids by teaching them how to communicate problems to parents. Once the parents receive this information, they are receptive to suggestions.

Powell’s personal story was initially a big part of the programming; participants found it inspiring. When I spoke with her, she shared how her parents, with the best of intentions, were overprotective and encouraged her to always wear a wig in company. Her self-consciousness limited her in school, and as a young woman she was afraid to get married and have kids because she worried that a bald woman was unlovable. Her now-husband inspired her by saying that if she was afraid of her wig falling off, she should just “go bald!” She began to do things she never thought she would, such as river rafting and roller coasters. But the process of self-confidence is gradual – she wore her wig during labor, nervous to meet her new baby. Now her kids – ages 13, 11, and 9 – talk about their “cool bald mom!”

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