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Dermatology, Research, Stanford News, Videos

Life with epidermolysis bullosa: “Pain is my reality, pain is my normal”

Life with epidermolysis bullosa: "Pain is my reality, pain is my normal"

“Pain is my life. It’s my reality. It’s my normal.” These are the words that haunted me for days after first watching this film about Paul Martinez, a 32-year-old Stanford patient with epidermolysis bullosa (EB). I’m used to being moved by films made by my colleague Mark Hanlon, but his latest effort, called “The Butterfly Effect,” is about as powerful (and tear-inducing) as anything I’ve seen during my time here.

EB, as Krista Conger described earlier this week, is “incurable, fatal, and nearly indescribably painful.” Dermatologist Paul Khavari, MD, PhD, says in the film that “it just breaks your heart” when talking to patients and their families about what they go through, and Martinez, who shared his daily life and opened his home to Hanlon, puts it this way:

The word ‘pain’ itself doesn’t even describe how bad EB is. Your body is constantly on fire – it burns from the wounds from raw flesh, and it keeps repeating over and over and over. The cycle is never ending.

Seeing what Martinez and his caretaker-mother endure every day (warning: it’s not easy to watch) makes you wonder, frankly, how they do it – and also illustrates just how desperately a cure for this terrible disease is needed. Luckily, as detailed both in the film and Conger’s accompanying Stanford Medicine magazine article, researchers here are working to combat the illness – and have been doing so for decades. And Khavari closes out the film with a hopeful tone, saying: “We can start to see on the horizon the potential to really make a difference for patients.”

Previously: The worst disease you’ve never heard of: Stanford researchers and patients battle EB and This summer’s Stanford Medicine magazine shows some skin

Aging, BigDataMed15, Videos

A look at aging and longevity in this “unprecedented” time in history

A look at aging and longevity in this "unprecedented" time in history

Keynote talks and presentations from the 2015 Big Data in Biomedicine conference at Stanford are now available on the Stanford YouTube channel. To continue the discussion of how big data can be harnessed to improve the practice of medicine and enhance human health, we’re featuring a selection of the videos on Scope.

Life expectancy dramatically increased in the 20th century and has reached an all-time high in the United States. At this year’s Big Data in Biomedicine conference, Laura Carstensen, PhD, director of the Stanford Center on Longevity, called this point in history “unprecedented” in terms of longevity. She told attendees, “Our ancestors in the 20th century added more years to life expectancy than all years added across all prior millennia of human evolution combined.” She also noted that for the first time in the history of our species, “the vast majority of babies born in the developing world have the opportunity to grow old.”

In the above talk, she explains the changes that led to this “stunning achievement” and presents data to explore what aging now looks like – and what it might look like in the future.

Previously: Parents turn to data after son is diagnosed with ultra-rare disease, Nobel Laureate Michael Levitt explains why “biology is information rich” at Big Data in Biomedicine, At Big Data in Biomedicine, Stanford’s Lloyd Minor focuses on precision health, Experts at Big Data in Biomedicine: Bigger, better datasets and technology will benefit patients and On the move: Big Data in Biomedicine goes mobile with discussion on mHealth

Big data, BigDataMed15, Chronic Disease, Genetics, Videos

Parents turn to data after son is diagnosed with ultra-rare disease

Parents turn to data after son is diagnosed with ultra-rare disease

Keynote talks and presentations from the 2015 Big Data in Biomedicine conference at Stanford are now available on the Stanford YouTube channel. To continue the discussion of how big data can be harnessed to improve the practice of medicine and enhance human health, we’re featuring a selection of the videos on Scope.

Four years ago, Matthew Might, PhD, and his wife, Christina, learned that their son Bertrand was the first person to be diagnosed with ultra-rare genetic disorder called N-Glycanase Disorder. At the 2015 Big Data in Biomedicine conference at Stanford, Might recounted the story of his son’s medical odyssey and explained how a team of Duke University researchers used whole-exome sequencing, which is a protein-focused variant of whole-genome sequencing, on himself, his wife and Bertrand to arrive at his son’s diagnosis.

Watch the video above to find out how Might and his family, who turned a deaf ear to doctors’ advice that nothing could be done for their son, harnessed the power of the Internet to identify 35 more patients with the same disorder and are now leading the charge in helping scientists better understand the disorder.

Previously: Nobel Laureate Michael Levitt explains why “biology is information rich” at Big Data in Biomedicine, At Big Data in Biomedicine, Stanford’s Lloyd Minor focuses on precision health, Experts at Big Data in Biomedicine: Bigger, better datasets and technology will benefit patients, On the move: Big Data in Biomedicine goes mobile with discussion on mHealth and Big Data in Biomedicine panelists: Genomics’ future is bright

Events, Health and Fitness, Sports, Stanford News, Videos

Stanford Football team physician shares tips for staying healthy while working out

Stanford Football team physician shares tips for staying healthy while working out

Last month, more than 750 people gathered on the Stanford Medicine campus for the annual Health Matters event. There, Jason Dragoo, MD, team physician for Stanford Football and the U.S. Olympic Committee, delivered a talk about preventing injuries and improving fitness performance. As he explains in the above video, he and colleagues dramatically changed the conditioning program for football players over the last five years: gone is the traditional weight room packed with machines and racks and in its place is a training facility stocked with kettle bells, Pilates equipment, medicine balls, wooden sticks and core boards. As a result, the injury rate dropped more than 70 percent and the team’s success has skyrocketed. 

Watch Dragoo’s full presentation and learn how you can apply the workout tactics employed by Stanford Football to avoid injury and improve your own exercise regimen. And check out the Stanford Medicine YouTube channel for more Health Matters videos, including:

Previously: Stanford Medicine’s Health Matters event, in pictures and Stanford’s Health Matters happening on Saturday

Big data, BigDataMed15, Videos

Nobel Laureate Michael Levitt explains why “biology is information rich” at Big Data in Biomedicine

Nobel Laureate Michael Levitt explains why "biology is information rich" at Big Data in Biomedicine

Keynote talks and presentations from the 2015 Big Data in Biomedicine conference at Stanford are now available on the Stanford YouTube channel. To continue the discussion of how big data can be harnessed to improve the practice of medicine and enhance human health, we’re featuring a selection of the videos on Scope.

In 2013, Michael Levitt, PhD, professor of structural biology at the Stanford, was awarded the Nobel Prize in Chemistry for “for the development of multiscale models for complex chemical systems.” His work focuses on theoretical, computer-aided analysis of the protein, DNA and RNA molecules responsible for life at its most fundamental level.

During his keynote at last month’s Big Data in Biomedicine conference, Levitt spoke about big data in computational structural biomedicine and told the audience that “biology is information rich.” Watch his full presentation above to learn more about big data in biology, computer simulations in biomolecules and medical applications of molecular simulation.

Previously: At Big Data in Biomedicine, Stanford’s Lloyd Minor focuses on precision health, At Big Data in Biomedicine, Nobel laureate Michael Levitt and others talk computing and crowdsourcing, Experts at Big Data in Biomedicine: Bigger, better datasets and technology will benefit patients, On the move: Big Data in Biomedicine goes mobile with discussion on mHealth and Big Data in Biomedicine panelists: Genomics’ future is bright

Medical Education, Patient Care, Stanford News, Surgery, Videos

Why become a doctor? A personal story from a Stanford plastic surgeon

Why become a doctor? A personal story from a Stanford plastic surgeon

Recent graduates: Never fear if you haven’t picked a career yet; it’s never too late to figure out what you want to do when you grow up. I’m on my third career, and Rahim Nazerali, MD, now an assistant professor of surgery at Stanford, is on his second.

He explains in this recent Stanford Health Care video:

I had a career in international health and I felt like I wasn’t interacting with enough people, I was doing a lot of behind the desk work and I never really interacted with the people I was affecting. I entered medicine for that reason.

And when he entered medical school at Brown University, Nazerali thought he would pursue emergency medicine or orthopedics. But he was wrong again. In the video, he describes a surgery — which he watched on his first day on a plastic surgery rotation — that convinced him that this field was the one for him. Plastic surgeons converted a gaping post-tumor chest hole into a natural looking chest: “You could hardly even tell that anyone was there,” Nazerali said. “At that point, I thought, ‘I want to do that.'”

Now, he’s on the front lines of patient care, where he hopes to stay.

“Many patients come back in after they have their confidence back, after they have their life back, after they have their time with their family back,” Nazerali said. “That’s what makes it really rewarding.”

Previously: Why become a doctor? A personal story from a Stanford oncologist, Students draw inspiration from Jimmy Kimmel Live! to up the cool factor of research careers and Stanford’s senior associate dean of medical education talks admission, career paths

Biomed Bites, Evolution, Genetics, Research, Science, Videos

One mutation, two people and two (or more) outcomes: What gives?

One mutation, two people and two (or more) outcomes: What gives?

Welcome to Biomed Bites, a weekly feature that introduces readers to some of Stanford’s most innovative researchers. 

Tweak a piano string and you’ve created a different note. Tweak a gene and no one knows exactly what might happen. Perhaps the resultant protein is completely defective. Perhaps the same change does nothing in me but turns your world upside down. Who knows?

One Stanford researcher is working to demystify some of that variability, an endeavor that could lead to big changes in the development of therapies for diseases such as cancer. Daniel Jarosz, PhD, assistant professor of chemical and systems biology and of developmental biology, describes his work in the video above:

We all know there are many mutations associated with disease, for example, that give rise to that disease in some patients, yet there are other patients that have the same mutations and don’t have any effects. We’d really like to understand that…

The clinical benefits of this work are potentially very large.

For example, Jarosz said he and his team study why some tumor genes are able to evolve rapidly to evade chemotherapy. With a greater understanding of what conditions cause rapid evolution — and drug resistance — they can more easily evaluate new therapies.

Learn more about Stanford Medicine’s Biomedical Innovation Initiative and about other faculty leaders who are driving biomedical innovation here.

Previously: From finches to cancer: A Stanford researcher explores the role of evolution in disease, Computing our evolution and Whole genome sequencing: The known knowns and the unknown unknowns

Cancer, Dermatology, Events, Stanford News, Videos

Free skin cancer screening offered on June 13

Free skin cancer screening offered on June 13

Skin cancer is one of the most preventable cancers – and one of the most treatable, if it’s detected early enough. Knowing the possible risk factors, such as fair skin, excessive sun exposure, or atypical moles, might help in recognizing the signs of the disease, and getting a professional screening is also always a good idea.

Each year, Stanford dermatologists offer a free screening for skin cancer; this year’s event is happening Saturday, June 13 from 8:00-11:30 AM at the Stanford General Dermatology Clinic in Redwood City. If you’re a local reader, plan to stop by.

Alex Giacomini is an English literature major at UC Berkeley and a writing and social media intern in the medical school’s Office of Communication and Public Affairs.  

Previously: The importance of sunscreen in preventing skin cancerSkin cancer images help people check skin more often and effectively, and Study shows link between indoor tanning and common skin cancer

Biomed Bites, Genetics, Infectious Disease, Research, Videos

Why are viruses so wily? One researcher thinks she knows — and is working to thwart them

Why are viruses so wily? One researcher thinks she knows — and is working to thwart them

Welcome to Biomed Bites, a weekly feature that introduces readers to some of Stanford’s most innovative researchers. 

Some of the world’s best known viruses use RNA, rather than DNA, to code for proteins, including polio, measles and hepatitis C. There are a few differences:  RNA uses a component not used in DNA, and RNA is usually single-stranded, rather than the familiar double helix of DNA.

RNA viruses change rapidly, evading efforts to develop vaccines and therapies. But the change is uneven — some genes evolve with nearly every replication, others stay the same for generations. Molecular biologist Karla Kirkegaard, PhD, wondered why. The chair of Stanford’s Department of Microbiology and Immunology explains her discovery in the video above:

The answer was unusual. It turns out that there are different kinds of selective pressures on these regions, and it is very hard for new variants to arise in certain regions because their family members around them poison their advantage.

Alone, for example, a mutated gene might perform better than one that is unaltered. But when it is mixed with other genes, it might make the resultant virus less competitive.

That offers valuable insight for drug development, she said. Consider the interaction of genes and viruses together, rather than aiming to disable a single player, Kirkegaard advises:

My quest right now is to convince people who target antivirals for the common cold, West Nile virus and SARS to think about those processes the viruses have to cooperate on so we won’t have such a big problem with drug resistance.

Learn more about Stanford Medicine’s Biomedical Innovation Initiative and about other faculty leaders who are driving biomedical innovation here.

Previously: Ending enablers: Stanford researcher examines genes to find virus helpers, A conversation on West Nile virus and its recent California surge and Exploring the role of extracellular RNA communication in human disease

Behavioral Science, Events, Mental Health, Research, Videos

Stanford bioengineer uses his experience in Iraq to improve research of TBI and PTSD

Stanford bioengineer uses his experience in Iraq to improve research of TBI and PTSD

777423808In 2012, President Obama issued an Executive Order calling for better prevention, diagnosis and treatment of traumatic brain injury (TBI), post-traumatic stress disorder (PTSD) and other mental health conditions. Third-year doctoral student Russell Toll is one of many who is doing research in these areas, and he brings a unique perspective to his work: He’s both a bioengineer and an Army combat veteran.

In 2006, Toll was in charge of a combined tank and infantry platoon stationed in the Diyala River Valley, about an hour northeast from Baghdad, Iraq.

His unit deployed with 14 tanks; they came back with four. Within 15 months, 28 men in his batallion were killed and 132 were severely wounded. A third of his men earned the Purple Heart and his unit — the 1-12 CAV in the 1st Cavalry Division — earned the Valorous Unit Citation for extraordinary heroism.

Now, Toll is working with his graduate advisor, Amit Etkin, MD, PhD, an assistant professor in the Department of Psychiatry and Behavioral Sciences, to identify biomarkers associated with TBI and PTSD. Toll and Etkin will discuss their work at the West Coast preview of the film “Searching for Home: Coming Back from War” next Saturday, June 20, at Stanford’s Cubberley Auditorium.

Recently, I spoke with Toll to learn more about his experience in Iraq and his research.

How did your experience in Iraq inform your understanding of PTSD?

As a platoon leader, all of your thoughts and efforts are focused on keeping your unit safe and getting them home. Only after you get home and decompress do you realize how much [weight] you were carrying.

This is a common experience for many soldiers and people that have lived through a traumatic experience.

At what point in your military career did you become interested in bioengineering and research on TBI and PTSD?

The pivotal point was in 2009 when I visited Walter Reed [National Military Medical Center] to check in on my men. The care they received at the center was excellent, but some of the equipment and technology that was being used to diagnose and treat them seemed like it hadn’t changed since Vietnam.

When I returned to my hotel room at night, I found myself drawing up ways we could address this problem on the backs of napkins. I have a bachelors degree in systems engineering from West Point, and I decided to apply these skills as a graduate student in bioengineering.

What was it like to come to Stanford after spending 15 months in Iraq?

It was a stark transition from the Army to Stanford; I felt like I had just climbed off the tank and stepped straight into systems biology. It sounds funny, but in a way I was able to apply my military training to my graduate studies: I developed cooperative relationships with the “indigenous experts” so I could get help from my classmates. As evidenced by my friends, I’m good at surrounding myself with excellent people. Their tutoring, coaching and friendship — especially that of Shrivats Iyer — was a major reason I was able to make it this far.

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