Penn Medicine News Blog

Twenty Years Later: How Breast Cancer Risk Genes are Changing Patient Care

In the mid-1990s, scientists for the first time were able to isolate and clone the BRCA1 and BRCA2 genes, mutations in which were thought to increase susceptibility to early onset breast and ovarian cancers. A new Perspective published last week in Science takes a look back at the last twenty years to show how the identification of these genes set in motion a firestorm of research aimed at exploring how genetic information can be used to create both standards of care and strategies for all patients at a high-risk of developing cancer. Much has been learned over the last twenty years and now, Penn Medicine’s Basser Research Center for BRCA - the first and only comprehensive BRCA-focused center of its kind – is at the forefront of the next generation of research about genetics and cancer risk, methods for risk reduction and prevention, and new cancer treatment therapies.

Autosomal dominant diseases, as in the case of BRCA mutations, means you only need to get the abnormal gene from one parent in order for you to be at risk of inheriting the disease. “Affected,” in the context of BRCA mutations, means a patient is “at risk.” It does not necessarily mean a patient has been diagnosed with cancer. 

BRCA: Then and Now

Information gleaned over the last twenty years combined with new details about non-BRCA1/2 genetic variations is arming physicians and researchers with the tools to begin to developing models that will provide personalized care plans for BRCA1/2 mutation carriers based on genetic changes. Two decades ago, studies confirmed the association between BRCA1 and BRCA2 mutations and early-onset breast cancer and ovarian cancer. Since then, more than 1,800 distinct variants of BRCA1 and more than 2,000 of BRCA2 have been reported. Further studies revealed that not only are BRCA1/2 mutations hereditary, but some variations are also common among distinct populations. The best known example is in the Ashkenazi Jewish population, in which nearly three percent of individuals carry a mutated version of the gene. That means they have a 1 in 40 chance of carrying a BRCA1 or BRCA2 gene mutation -- a ten times greater probability than that of the non-Jewish population.  

“A woman’s risk of breast cancer is still very much tied to family history, but it’s not just about their mother or grandmother; it’s about their father and his family history, too, and the population groups an individual’s family belongs to,” said Katherine Nathanson, MD, associate professor of Medicine in the Division of Translational Medicine and Human Genetics, co-leader of the Cancer Prevention and Control Program at the Abramson Cancer Center, and a co-author on the new Perspective. “Twenty years of research has provided a lot more information about these risk factors which helps us to more effectively counsel patients about their own cancer risk and possible preventative strategies.”  

Today, BRCA1 mutation carriers are generally estimated to have a 57 percent chance of developing breast cancer and a 40 percent chance of developing ovarian cancer by age 70, whereas BRCA2 mutation carriers are estimated to have a 49 percent chance of breast cancer and an 18 percent chance of ovarian cancer.

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2014 Facts and Figures Shows Penn Medicine’s Expanding Footprint

Facts-cover-2014In the 2014 edition of Penn Medicine’s annual Facts and Figures report, readers can find numerous achievements in research, education, and patient care from the past year.

Highlights from this year’s text include Penn Medicine continuing as one of the nation’s top recipients of National Institutes of Health funding, the Perelman School of Medicine’s rank among the top five medical schools in the country by U.S. News and World Report for the 16thstraight year, and capital projects planned for the Penn Medicine campus. 

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Taking a Look "Inside Penn Medicine"

IPM publications blog photoPenn Medicine is a vibrant community of students and health-care professionals. Get a glimpse into what’s happening in this world of education, clinical care and research through our internal newsletters, located on the “Inside Penn Medicine” homepage and in print editions throughout UPHS. You can also subscribe to get news delivered straight to your email inbox.

Here are a few of our most recent stories:

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Relieving the Burden

It sounds like a provocative idea for a health care practitioner: Frank Leone, MD, MS, and his team call themselves “pro-smoker.” That’s because smoking, he says, is a disease – one that should be treated with compassion and evidence-based therapies like any other.

“Getting people to quit is good for public health,” says Leone, director of the Comprehensive Smoking Treatment Programs at the Penn Lung Center. “But, we see our job as healthcare providers is to relieve the burden of the disease, not to apply additional pressure on smokers.”

The team engages smokers to understand why they smoke and in response, designs a cessation plan to meet the patient’s specific needs. Dr. Leone and his associate Sarah Evers-Casey, MPH, see patients both in their offices at Penn Presbyterian Medical Center and the Perelman Center for Advanced Medicine and meet with hospital inpatients suffering from illnesses in which smoking plays a role.

“What we hear from these patients is that they feel pressure to quit from their physician and caregivers, who often have a misunderstanding about smokers and an inherent bias toward them and their behavior,” says Evers-Casey.

Last week the Center launched its inaugural education program, Preparing for the Integration of Tobacco Use Treatment into Healthcare, an interactive training program for working healthcare professionals designed to help them develop skills in tobacco dependence treatment. The participants deepened their expertise through examination of accepted standards of care, analysis of current research findings, and hands‐on application of tobacco treatment principles.

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Match Day 2014: "Episode IV: A New Hope"

"Match Day has come and gone." In his final post, medical student Karthik Muthuswamy tells us how Match Day played out for him, and where he's heading for his residency training. Congrats to Karthik and all the students!

And if you've never experienced Match Day at the Perelman School Medicine, now's your chance. Check out Match Day video from this year's ceremony!

By: Karthik Muthuswamy

"Episode IV: A New Hope"

The epilogue

The letters are opened, food has been eaten, dance floors have been trounced. Match day has come and gone.

It was an amazing experience. There was just so much excitement in the air, it was crazy! It was interesting to see how a few hours later... all of us were beat. Maybe it's because we are older now, but more likely it's because of how exciting match day was. I think our adrenal glands were completely done after pumping out gallons of adrenaline to keep up with the match day.
The sheer excitement was amazing and humbling at the same time. I can't believe I spent the last 4 years with these amazing people. Penn Med's match list for 2014 (as it is every year) is amazing. It was also so nice to see so many friends and families come out to support us. I know everyone things graduation is a big deal, but for medical students - it's all about match day. This is what we've worked very hard for over the last 4 years. Actually for many of us, this is something we've worked towards for almost 2 decades. So definitely the bigger deal.

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Passing Wisdom On

In a medical school as historic and intellectually demanding as Penn’s, it’s no surprise that the students occasionally seek some kind of alternative activity. Some of these activities continue to be based on their usual interests and concerns. The annual Spoof, combining music and comedy, comes to mind. In the course of organizing and performing, the students can let off steam and have some fun with what they are learning –- as well as with those who are teaching them or overseeing them. It’s not uncommon for deans and professors to be satirized –- in a good-natured way, of course! There is also the annual student-faculty basketball game, which provides the male students at least with an opportunity to show their professors –- and Ralph Muller, CEO of the University of Pennsylvania Health System, a regular participant –- who rules on the court.

William Swiggard, PhD, MD, RES ’01, now an infectious diseases specialist at Cooley Dickinson Hospital, entertained students in 1998 with “Mamas, Don’t Let Your Babies Grow Up to Be Interns.” (With apologies to Waylon Jennings and Willie Nelson.)

Then there is the Penn Pearls Teaching Awards Ceremony, a different sort of endeavor. Organized by the medical students with some help from the Office of Student Affairs, it is an occasion for recognizing some exceptional clinical teachers. Spirits are often high, but the advice given by the recipients is often heartfelt and useful. As the program for this week’s ceremony noted: “Today’s recipients are outstanding teachers, mentors, and friends whose influence will undoubtedly continue to shape our careers.”

Penn’s medical students encounter great teaching in the classroom, but those selected to receive Penn Pearls have served as mentors outside the classroom. They teach through explicit instruction and counsel or through example. They are particularly useful when imparting “the hidden curriculum” –- those things students don’t learn from books, lectures, and videos but that are valuable nonetheless.

I first became aware of Penn Pearls in 1998, when I assigned my assistant editor to cover the event. We knew the dean would be attending, which gave the ceremony some automatic gravitas. That year was its eighth year of existence, and, as in the years to follow, the students had singled out both attending physicians and residents. (Fellows were added in more recent years.) In return, those being honored would offer “pearls of wisdom” to the students. The pearls, as might be expected, varied widely.

For example, there was Peter Argenta, MD, RES ’99, then a resident in obstetrics and gynecology and today a gynecologic oncologist at the University of Minnesota. “Don’t ever refuse a breath mint,” he said. But he also emphasized the importance of making time for family and friends, even within the students’ busy schedules. And he also noted that the best doctors are those who can read between the lines when caring for patients.

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Oxygen in our Bones

Vinogradov Nature imageEach day we take a breath about 20,000 times, bringing in oxygen that provides energy through a complicated reaction in the cell’s energy factory, the mitochondria. Just to break down one molecule of glucose – a basic reaction necessary for life -- into carbon dioxide and water takes six molecules of O2. On the other hand, a highly reactive form of oxygen called superoxide is created by immune cells from O2 to use against invading microbes. But, these reactive, charged oxygen molecules can be lethal to human tissues and are implicated in a host of diseases.

Sergei A. Vinogradov, PhD, associate professor of Biochemistry and Biophysics, at the Perelman School of Medicine, specializes in imaging of oxygen within the body using optical techniques.In 2008, his lab developed a new approach called two-photon phosphorescence lifetime microscopy (2PLM). This method allows him to look at oxygen distributions deep in tissue in three dimensions. The first applications of the method were in the brain.

Recently, working with many colleagues, the Penn team published in Nature the first application of 2PLM to directly quantify the physiological environment of blood stem cells, called haematopoietic stem cells, or HSCs. They asked: How can the marrow, which is highly permeated with blood capillaries, harbor blood stem cells in a low-oxygen microenvironment? Low oxygen levels in the HSC 'niche' keep stem cells in a quiescent state, protecting them against oxidative stress and maintaining their integrity until they are needed to make new cells, researchers surmise.

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Match Day 2014: "Episode 2--The Middle Chapter"

This year for our annual Match Day blog series, Karthik Muthuswamy will be sharing his thoughts and perspective on his own Match Day experience. Check back throughout the week for new posts!

Episode 2--The Middle Chapter

"So I pull out my phone and there it was: a new email..."

 By: Karthik Muthuswamy

11:58 am, Monday morning: I'm walking across the South Street Bridge onto campus. Officially, I'm walking to the administration office to pick up some paperwork for the VA (I'm planning to do a rotation there in April).

Unofficially, I'm walking over as a backup: today is the day we find out if we matched or not. If we didn't match, we have to go through the "scramble" process (now called SOAP - see my previous post for more details) to find residencies with an open slot. To do that, it's recommended we be on campus between noon and 2 pm to meet with our advisors to help with the scramble process.

As I mentioned last time, this is the anxious phase for me: if I match, then the excitement will build. My plan last night was to play video games and watch TV till about 2 am so my body would sleep till 10:30 am. So I wouldn't have to nervously pace for too long before the National Residency Match Program emails went out.

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Beyond the Ivory Tower: Penn’s Neuroscience Grad Students Reach Out During Brain Week, and Beyond

NGG KidsJudge 2013 Synpatic LandPhiladelphia is a cerebral city this spring. To start, every March, Brain Awareness Week brings together institutions worldwide to celebrate the brain. Activities include open days at neuroscience labs, exhibitions about the brain, and displays at libraries, community centers, and science museums.

The Neuroscience Graduate Group (NGG) at the Perelman School of Medicine held its first annual Penn Neuroscience Public Lecture for Brain Awareness Week to a packed auditorium. The four TED-style talks covered how diet affects the brain, how people make choices about abandoning long-term goals, heritable memory problems from cocaine-abusing fathers, and bionic-like axon growth for nerve repair.

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2014 Match Day at Perelman School of Medicine: "Episode I (The Prequel)"

It happens every March here at the Perelman School of Medicine. Graduating medical students come together for “Match Day” with their classmates and wait for the envelope that will tell them where they are headed for their residency training.  

This year for our annual Match Day blog series, Karthikeyan Muthuswamy will be sharing his thoughts and perspective on his own Match Day experience. Check back throughout the week for new posts!

Match 2014 Episode I (The Prequel)

[It’s] very hard for us as fledgling doctors to sit on our hands while a magical computer in the sky crunches numbers and decides our fates.”

By: Karthik Muthuswamy

I have heard nothing back yet about where I stand in the match, and it's pretty nerve wracking. To bring you up to speed, here's the sequence of events in Match 2014 (I took this directly from the National Residency Match Program website).

Karthik_m_CroppedIt's hard to believe that just a few weeks ago I was looking through long spreadsheets with complex calculations trying to figure out how to rank the programs I was interested in. I had multiple categories: location, cost of living, "feel" of the program, future opportunities, future "settle down" potential, etc. I designed an awkward weighting for each of the categories. Then I plugged in hard values based on my interview day (and research from here for cost of living). All of this culminated in a final rank list. I compared this against a more subjective rank list I'd come up with (which had significant input from my fiancee). Funny enough, they were very similar (which probably means my subjective selection took into account all the objective categories in the excel calculator).

Finally, with my fiancee on the line, I clicked "Certify my rank order list" one final time. All of this happened a few days ahead of the Feb 26th deadline.

What now?  ...We sit on our hands till Match day rolls around. In a way - this is good. There's nothing more (within reason) we can do to affect the outcome of the match process. So, every time I start dreaming (or nightmare-ing) about match day / week, it's easy enough to tell myself: "Well, I can't do anything about it, so I might as well just sit on my hands and watch some TV."

Problem is - how many people in the medical field do you know who are ok with sitting on their hands? In many cases (many more than medicine would like to accept) - doing less is better. But doctors have historically been horrible at doing less. Discussing whether or not doing less is more is a topic for another day - but suffice it to say that doctors, as a whole, prefer to do rather than not do. This makes it very hard for us as fledgling doctors to sit on our hands while a magical computer in the sky crunches numbers and decides our fates.

The best we can do is keep ourselves busy. On a personal level - I have a lot riding on this (as does everyone). This is my third career. I put quite a bit on the line by leaving the corporate pharmaceutical world after 5 years and entering medical school. It may be an oversimplification - but all your efforts over your 4(+) years in medical school boils down to this: the Match. It will determine where you'll end up for the next 3 or more years of your life. In some cases, it also determines what path you walk down - what kind of doctor you'll become. No pressure.

I'm lucky in a way: I was doing some clinical rotations for the past few weeks. I'm also directing, acting, dancing, collecting funds for and making ads for the medical school play we do every year. All of this keeps me busy by default. And there's all these TV shows I have to catch up on!

But patience has never been my strong suit. And limbo sucks.

NRMP hasn't been too helpful either. You find out on Monday if you matched, then on Friday you find out where you matched. The reason for this separation is the back-up process built into the match called SOAP (Supplementary Offer and Acceptance Program). SOAP kicks in if you do not match in the first round of matching. Mind you, this is significantly better than the previous back-up process (affectionately referred to as "The Scramble") because SOAP is more computer-based. So, why is NRMP not being very helpful during our wait? They send us emails telling us about our eligibility for SOAP. When you open their emails, it takes a second or two for you two realize that NRMP is telling you nothing about whether you matched or not - they are just saying "hey, you have everything ready to participate in SOAP... just in case". Which is definitely nice of them to do! But for neurotic medical students, those few seconds of panic is quite painful.

So here I sit, waiting to find out if I matched. I am secretly happy that I'm eligible for SOAP (most people who go through the match process are) - just in case. I've thought through possible Plan Bs, Cs and Ds. I'm not sure what's worse - waiting till I find out if I matched, or waiting between Monday and Friday to find out where I matched. I'll report back on that.

The oddest thing? I'm not excited. I'm just nervous and anxious to get this over with. I'm hoping this changes - when I find out if I matched. After everything we've been through to get here, this should be a very exciting time for us. Here's hoping the excitement mounts soon and overshadows all this anxiety and nervousness.

The original post by Karthik can be found here.

From Red Carpet to Canvas

Creative Nurses Care Beyond the Bedside

“It takes a special type of person to be a nurse.”

If I had a dollar for how many times I’ve heard someone say that… It is an expression I believe to be true. It also seems to me it just isn’t enough for nurses to be clinically proficient and intelligent. They must always be sensitive and empathetic – yet resilient enough to resist burnout. Oh, and yes, they can’t be squeamish or uncomfortable handling patients in the most intimate of situations. A nursing career seems so demanding I wonder – how do they do it? Yet they do, do it, day after day, for years on end. So when I hear about nurses who have what I can only refer to as a whole other career – one that showcases a completely different skill set no less – I’m doubly impressed.

Meet filmmaker Lary Campbell, RN/HN, CRC, and artist David Lentz, RN, MSN, both nurses at Pennsylvania Hospital of Penn Medicine.

LaryCampbell&BethDunn - Full

First Lary… Lary Campbell is a psychiatric nurse at the Hall Mercer Crisis Response Center at Pennsylvania Hospital. Before becoming a nurse 35 years ago, he was an actor. However, his interest in acting started in his more formative years, as a teen growing up in the 1970s. Spurred on by winning a Super-8 camera on the Atlantic City boardwalk, Lary first explored movie-making through a more a typical teen fave genre – horror. “My friends and I would shoot short horror films in graveyards. Well, we did until we got kicked out for getting caught faux ‘strangling’ each other against a tombstone,” said Lary.

In the 1980’s Lary decided to try his hand at writing, directing, and producing and created the play Robby, about his experience caring for an eight year old child in Harlem with AIDS. It was this transformative experience that eventually led him to fulfill his ultimate dream of completing his first feature-length film, titled It Had to be You. The film was cast with all Philadelphia actors and shot in Philly’s “Gayborhood” and surrounding communities. A film about coping with HIV/AIDS, alcoholism and codependence issues in the gay community, It Had to be You was featured last summer at a sold-out screening at Philly’s Ritz East Theatre as part of the 19th Philadelphia QFest.

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OncoLink Celebrates 20 Years!

Creator Joel Goldwein, MD, Honored with “Visionary Award” at Anniversary Event

Before there was Yahoo or Google, there was OncoLink—one of the first web sites to provide to cancer information, or really any information, on the internet. And it started right here at Penn Medicine. Today, 20 years later, it’s one of the most trusted sources of cancer information, having reached nearly 40 million patients, families and healthcare professionals.

Oncolink-108“That’s an amazing accomplishment,” said James Metz, MD, professor of Radiation Oncology and the site’s Editor-in-Chief. “It is truly amazing to be part of the innovation that happens at Penn. I challenge any one to think of a single invention, discovery, or vision that has touched over 40 million individuals in the past 20 years: one man, with one computer and one vision, and millions given hope and inspiration through education on OncoLink.”


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New Art Installation Illustrates DNA Repair and Celebrates Hope for Patients and Families Carrying BRCA Mutations

Penn Medicine's Basser Research Center for BRCA Unveils Homologous Hope Sculpture

Homologous hope_art4On Wednesday, the University of Pennsylvania’s Basser Research Center for BRCA  hosted a special event to formally unveil “Homologous Hope,” a new sculpture suspended from the glass atrium in the Perelman Center for Advanced Medicine. The large-scale piece was created especially for the Basser Research Center for BRCA by internationally renowned artist Mara G. Haseltine, and is positioned to greet visitors as they enter.

Created in a ribbon-diagram formation, the sculpture illustrates how a healthy cell repairs DNA that causes breast, ovarian and pancreatic cancers. It is an accurate depiction of the part of the BRCA2 gene that is responsible for DNA repair. The repair occurs in three stages, as illustrated by a light show within portions of the piece. The sculpture celebrates the hope that the establishment of the Basser Research Center is giving to countless families and their loved ones.

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The Gift of Life Blossoms into Friendship

Wendy and meghanThere was no reason for Meghan Shaffer and Wendy Hancock to know each other. After all, they had nothing in common. Wendy lived in Pennsylvania and had recently given birth. Meghan was a young nursing student at the University of Michigan. But Fate had other plans for them.

How It All Started

Shortly after her daughter was born in June 2011, Wendy developed a fever that wouldn’t go away. Antibiotics didn’t seem to solve the problem and a “ton of tests” all came back negative. But she continued to run a fever and was in increasing pain. Finally, four weeks after giving birth, “the bone pain was so bad, I couldn’t move,” she recalled. A subsequent bone marrow biopsy revealed that she had leukemia.

Wendy was admitted to the Hospital of the University of Pennsylvania emergently and started chemotherapy. To give her the best chance of being cured, her oncologist, Selina Luger, MD, director of Penn’s Leukemia Program, determined that Wendy would need a bone marrow transplant as part of her treatment. Her name was immediately entered into Be the Match (a part of the National Marrow Donor Program). She continued to receive treatment for her leukemia while they looked for a donor. By October they had found a match.

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Taking a Look “Inside Penn Medicine”

PublicationsWith more than 20,000 students and professionals dedicated to continuously building on successes in research, clinical care, and education, keeping up with the pulse of Penn Medicine can be a challenge.

Our institutional newsletters, located on the “Inside Penn Medicine” homepage, in print editions throughout UPHS, and email inboxes, strive to share those achievements, stories, and perspectives from those who make Penn Medicine one of the most preeminent academic medical institutions in the world.

Here are a few recent stories you may have missed:

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Another Wound Bites the Dust - All-Star Team Treats Chronic and Complex Wounds

When you have a handful of serious medical conditions to deal with, the number of specialists to see can become complicated and exhausting. A new program – to treat people dealing with unrelenting wounds – aims to simplify the process by bringing a cadre of specialists together, centering around patient needs.

The new Penn Center for Wound Healing and Reconstruction has started seeing patients in a coordinated clinic format, designed to flex and meet  the variety of patient conditions the team sees.

"A typical patient is in their 50s, has diabetes and high blood pressure, peripheral vascular disease, and is dealing with a wound that just won't heal," said Center director Stephen Kovach, MD,

Assistant Professor of Surgery in Plastic Surgery. "Chronic wounds can be very challenging for patients, as well as caregivers, given that the wounds are so persistent and require unique treatment approaches."

At the same visit, a patient can see a plastic surgeon, foot and ankle surgeon and/or vascular surgeon about any surgical needs to repairs the wound, while also meeting with a specialists from departments such as Cardiology, Endocrinology, Hyperbaric Medicine and Infectious Diseases, to treat both the acute issue and the underlying condition(s) in parallel.

An estimated 3.8 - 5.7 million people are affected by chronic wounds in the United States, where most injuries start as minor issues - an insect bite, a scratch or a scrape. Because of underlying diseases like diabetes or neuropathy, the wounds or ulcers don't heal normally, and can become infected or persist despite treatment efforts.

"We're treating the whole patient, with medical and reconstructive experts, in one place," notes Kovach. "And we're looking at the patho-physiology of the wound itself, to figure out why the wound may not be healing normally and how we can fix it."

Forget the Groundhog, Penn Medicine Health Screenings Show Spring is on the Way

PPMC volunteers with Bishop Grant of the Time for Healing Ministries

The weather outside might still be pretty frightful, but Penn Medicine faculty and staff have already started holding their annual health screenings and community health fairs, and that’s a sure-fire sign that spring is on the way!

This past weekend, a group of 16 volunteers from across a variety of departments and service lines at Penn Presbyterian Medical Center joined together at the Time for Healing Ministries (formerly the Highway Church of Christ) to offer free health screenings and education to members of the community. The gathering was one of the first of what is typically a very heavy season of community events and health fairs held throughout the city to raise awareness about routine health care and prevention.

“It was wonderful to see the children of our PPMC family so excited to participate in our community outreach event,” said Kevin Kates, BSN, RN, CEN, clinical nurse IV in the Emergency Department and  co-chair of the Nursing Shared Governance Leadership Council at PPMC. “Events like these make PPMC more than just a hospital, we are a family of caring individuals committed to the community which we serve. This was a great way to kick-off a new season of community health fairs.”

PPMC staff Nishaminy Kasbekar, PharmD, and Patty Baroni, RN, brought their daughters Kesar Kasbekar (left) and Katie Jane Baroni to join the festivities at Sunday's health screening

Nurses, doctors, pharmacists, and dieticians attended the event to provide local residents and members of the congregation with educational information on blood pressure screenings, early screening and prevention of colon cancer, warning signs of stroke, fall prevention and nutrition. The event was capped off with a performance from the congregation’s praise dancers, and a workout session for all attendees.

“Teamwork from all our volunteers made the day special,” said Susan Chodoff, director for Regulatory Affairs and Accreditation Compliance at PPMC. “We’re excited for the upcoming Philadelphia Science Festival, our annual Spring Into Health fair and all the other community events we’ll be taking part in over the next few months where we have the opportunity to engage with the local communities and spread a healthy message.” 

Transcription Factors Key to Using T Cells Against Cancer, Chronic Infection

Wherry BATF spiral blog post Mar 14Business is brisk in the lab of John Wherry and his team from the Department of Microbiology and the Institute for Immunology for papers on killer and helper T cells. Two studies -- bound by their focus on transcription factors important in the immune response – have come out of the lab in the last few weeks. And, they both identify potential new targets for cancer immunotherapies.

Transcription factors are proteins that attach to specific DNA sequences in the nucleus to control availability of DNA to be transcribed into messenger RNA. These factors control the differentiation of killer T cells -- whose job is to eliminate infected cells or tumor cells, as well as the support crew helper T cells. This type of T cell coordinates other arms of the immune response including sustaining killer T cells and aiding B cells in making antibodies. 

The lab’s paper in Immunity “was a genomic-scale profiling of what prevents T cells from responding to persisting infections or cancers,” says Wherry. The main players in the profile are sets of surface proteins on helper and killer T cells that prevent them from recognizing tumor or infected cells as “other.” Collectively, these proteins are called checkpoints in the immune response, and the team found that certain transcription factors play a larger role than first expected in the intricacies of the immune response.  

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Penn Medicine: Caring for Philly’s Hometown Team

Sixer-ad-sennett-kapurAthletics has been in the news lately, with the recent Olympic Games. For a fortnight, we watched as triumphant athletes celebrate the highest highs and ascended the medals podium to claim their reward. But as skiers tumbled down mountains, snowboarders navigated the half pipe, sometimes within inches of their life, and figure skaters were plagued with back injuries, we also witnessed some painful lows.

We pay close attention to these elite athletes every two years, during both the summer and winter Olympics, but there are athletes in our midst pushing their bodies to the limit at the college and professional level year-round.

Imagine playing 82 games a year as a professional basketball player, three to four games per week, sometimes all in a different city, between September and April. It’s a rigorous, grueling schedule.

Late last year, Penn Medicine entered into a partnership with the Philadelphia 76ers to be the team’s official healthcare provider, putting two physicians here at center court in the efforts to keep our hometown hoops team healthy.

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A Rare-fied Friday at the End of Every February

MDBR-Graphic with Penn logo Final FinalRare Disease Day is an annual world-wide event to raise awareness with the general public and decision-makers about rare diseases and their impact on patients’ lives. Here in Philly, join the Penn Center for Orphan Disease Research and Therapy at the World Café Live from 5-7 Friday the 28th for the kickoff celebration of the Million Dollar Bike Ride for rare disease, the Center's own annual grass-roots event. Network with cyclists, learn from orphan disease researchers, and meet families with a direct connection to these efforts.

Orphan/rare diseases represent a collection of disorders that affect fewer than 200,000 individuals for any single disease type, yet there are more than 7,000 distinct orphan diseases. In all, over 25 million people in the United States are afflicted by orphan diseases. Most rare diseases are genetic and present throughout the person's life, even if symptoms do not immediately appear. Many rare diseases do appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday. Despite this huge number, research on most diseases in this group has lagged far behind other major areas due to a combination of technological and funding limitations.

Even though the Rare Disease Day campaign started in Europe, it has progressively spread across the world, with over 70 countries participating in 2013. The hope of the movement is for the World Health Organization to recognize the last day of February as the official Rare Disease Day. 

And Penn Medicine is doing its part. The ongoing work at Penn on rare diseases runs the gamut from basic biology to clinical testing. Nearly a third of the projects are in the preclinical stage, with scientists working to uncover molecular and cellular causes for these disorders, which together reach every system in the body. Penn researchers are conducting nearly 300 different projects on 129 rare and orphan diseases.

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