The promise of gene therapy for inherited eye disease

I first learned about inherited blinding disorders as a freshman in college, when I got a summer job with Dr. David Birch, a leading scientist who has been studying retinitis pigmentosa (RP) for many years.

At that time, there were no treatments for genetic conditions like RP, which damage the eye’s light-sensing retina and cause progressive vision loss and blindness. Now, after working in this field for many years, it’s exciting to know we are at the cusp of sight-saving treatments for some of these degenerative diseases of the retina, which often appear at an early age.

What’s also exciting–and what many don’t realize–is that OHSU’s Casey Eye Institute is at the epicenter of many of these groundbreaking investigations, particularly in the promising field of gene therapy.

We are conducting more gene therapy trials than any other research center in the world, and are the first to test this novel approach for such inherited diseases as Usher syndrome and Stargardt disease. Usher syndrome is an especially devastating genetic disorder. Not only are patients born with deafness, they lose eyesight from RP as they grow older.

In the coming year, we also plan to launch the world’s first gene therapy studies for achromatopsia, which causes color blindness, daytime blindness and light sensitivity, and x-linked retinoschisis (XLRS), a disease that affects males and leads to retinal detachment and vision loss.

pennesi performing gene therapy

What has brought us to this point is the result of major technological advances and a robust infrastructure at Casey that enables us to recruit, test and treat study patients using cutting-edge approaches.

At the Oregon Retinal Degeneration Center, we’ve developed sophisticated diagnostic techniques that allow us to objectively measure whether the gene medication is working.

These capabilities are critical to a clinical trial’s success.

The human eye is ideal for testing novel treatments like gene therapy because it is accessible, yet segregated from the rest of the body. Moreover, since only one eye is treated, the fellow untreated eye serves as a valuable control. With gene therapy, our goal is to stabilize vision by replacing the targeted, malfunctioning gene with a single application of a healthy version.

The experimental medication is inserted into the eye by way of a non-active virus where healthy copies of the gene are delivered into eye cells. While it is too early to tell if these experimental treatments are effective, we are seeing beneficial effects from our first gene therapy study – for a rare childhood disorder called Leber congenital amaurosis (LCA). As we move forward, we hope to expand our investigations to include patients with less severe forms of these diseases as well as more common eye conditions, such as age-related macular degeneration.

Gene therapy won’t restore eye cells lost to disease, but if we can treat people in the early stages, we can help them face a future without ever-diminishing eyesight.

Learn more about Casey’s ophthalmic genetics program and clinical trials


Mark Pennesi, MD, PhD, is assistant professor of ophthalmology at OHSU Casey Eye Institute, where he specializes in ophthalmic genetics. He also is director of Casey’s Visual Function Service and the Ophthalmic Genetics Fellowship Program.

In recognition of his work in the field of inherited retinal disease, he is the recipient of numerous awards, most recently the Foundation Fighting Blindness’s prestigious Enhanced Career Development Award. He is currently exploring the potential of a new class of drugs to up regulate protective growth factors in the retina.

Your health questions answered: Kids and technology use

You ask. OHSU health experts answer. This month, our pediatric and and pituitary specialists are on the hot seat.

Q. When is my child old enough to use an iPad or tablet?

A. In general, consider any child younger than two years old too young. Tablets may prevent infants and toddlers from engaging in the give-and-take of everyday exchanges with family, as well as the “real” world of playing with physical objects that require and develop sensory and motor skills.

iPads do offer some terrific “edu-tainment” apps to help young children learn, especially in spelling, reading, and math. Tablets can also promote self-control. Before you use one for the first time, practice when it’s time to start and stop using it. Make its use dependent upon stopping on time, and let the child earn additional minutes with good behavior.

Finally, lead by example: Children mirror what their parents do, and if you’re always on your phone (“app-sorbed”), your child may follow suit or sigh, cry, or go to other great lengths to get your attention.

Q. I’ve noticed a change in my menstrual cycle and frequent headaches. Could this be a pituitary issue?

A. If you are experiencing absent or infrequent periods and other symptoms, such as frequenct headaches and abnormal weight gain, talk to your doctor. While these symptoms certainly could be due to other causes, they also may be signs of pituitary deficiency or a pituitary tumor that is overproducing a particular hormone.

The good news is that pituitary tumors are rarely cancerous and are typically treated with medication or surgery.

The pituitary is a pea-sized gland located at the base of your brain. It secretes prolactin, a growth hormone, and other hormones that control symptoms such as the thyroid, which regulates almost all metabolic processes; the adrenal cortex, which produces hormones, such as cortisol that regular metabolism and the body’s reaction to stress; and the ovaries.


Dr. Craigan Usher, M.D., joined the OHSU faculty in 2008 and specializes in psychiatry and pediatrics. 





Dr. Maria Fleseriu, M.D., F.A.C.E., is Director of OHSU’s Northwest Pituitary Center and an internationally renowned clinician, researcher and author. She focuses her clinical practice on the diagnosis and treatment of pituitary and adrenal tumors and pituitary dysfunction.

Winter recipes packed with cancer-fighting nutrients

Winter time is full of delicious fruits and vegetables that are flavorful and rich in cancer-fighting nutrients. Every fruit and vegetable contains their own cancer fighting compounds, including fiber.

Aim for 3-5 servings of fruits and vegetables daily to reap the rewards of these low calorie, high nutrient quality foods.

Try out these fall and winter recipes, then check out the American Institute for Cancer Research Test Kitchen for more ideas.

Roasted root vegetables with butternut squash

4 medium sized sweet potatoes, cubed
2 to 3 turnips (approx. 1lb), peeled and cubed
2 rutabagas (approx. 1lb), peeled and cubed
1 butternut squash (approx. 1lb), peeled and cubed, seeds removed
1 bunch of beets, peeled and chopped
1-2 tablespoons coconut or olive oil
1 tablespoon garlic powder
2 teaspoons sea salt
1 tablespoon onion powder
2 teaspoons paprika
1 tablespoon black pepper

1) Preheat oven to 375 degrees.
2) Place the first 4 ingredients in a large mixing bowl.
3) If using coconut oil, melt before adding.
4) Add all other spices, stirring to combine.
5) Add the beets to bowl.
6) Spread mixture on a large baking pan, or two if need more room.
7) Bake for approximately 45-55 minutes, until vegetables are soft and tender to the touch.

Fall Cranberry Smoothie

Serving size: 2 small or 1 large smoothie

1 cup fresh or frozen cranberries
1 stalk celery, chopped
1 sweet medium apple, peeled and chopped
3 inches of medium sized cucumber, peeled and chopped
1 tablespoon honey or agave syrup
1/4 cup water or several ice cubes 

1) Add the first 4 ingredients to the blender.
2) Blend on low and increase to high. Add water or add ice cubes to chill if using fresh cranberries.
3) Add honey and blend until smooth. Add more water if needed.


Amanda Bryant helps support the nutritional needs of adult patients affected with urological cancers, lymphoma, sarcoma, lung, and GIST during treatment and through survivorship. She primarily sees patients in the outpatient infusion unit and by scheduled appointments.




Know Your Healthy Heart Score

Do you try to follow a healthy lifestyle but wonder how good of a job you’re actually doing?

If you’re not sure where to begin, there’s a great new tool called the Healthy Heart Score from the Harvard School of Public Health that will help estimate your 20-year risk of a heart attack or stroke.

Although cardiovascular disease is largely preventable, it remains the leading cause of death in the world.

This easy quiz looks at your lifestyle choices such as physical activity, smoking, diet, and alcohol, along with age and BMI, and calculates your Healthy Heart Score. Unlike many other health assessment tools, such as this one from OHSU, you don’t need to know your cholesterol levels or blood pressure. Based on your answers, it also provides suggestions for changes you can make to improve your score.

By knowing your Healthy Heart Score, you can take control of your future by making effective changes to protect your heart.

Once you know your score, work on making small but effective choices every day to keep your heart healthy.

  • Small swaps in your diet – such as bringing lunch instead of buying it, or drinking water instead of soda – add up quickly. By paying more attention to your everyday choices, you won’t feel like you’re “on a diet.”
  • If you smoke, make a plan to quit.
  • Make it enjoyable and memorable. Increase your physical activity by taking more steps every day or planning your workouts for the week (schedule them on your calendar like an appointment). Try starting new holiday traditions with your loved ones – go ice skating, play tag football, or bundle up and go on a walk.

Make it enjoyable and memorable. Think about what choices you can make each day to protect your heart. Here’s to a healthy 2015!



Tracy Severson, RD, LD, is the dietitian for the Center for Preventive Cardiology at the Knight Cardiovascular Institute. She specializes in nutrition counseling for cardiovascular health and weight management.




OHSU’s Most Read Blog Posts of 2014

OHSU’s President, Dr. Joe Robertson, recently noted that the year has been filled with stories that will be “noteworthy 50 years from now.” And it’s true. From the unprecedented, national support for our $1 Billion Knight Cancer Challenge to global health outreach and preparation around the devastating Ebola virus outbreak, here’s what you may have missed; a round-up of our most read blog posts of the year:

OHSU’s Dr. Brian Druker teams up with Columbia Sportswear CEO, Gert Boyle, to get tough on cancer.

1. 8 Things to Know About Ebola

Although the odds of seeing a patient with Ebola virus here in Portland were low, we continued to actively prepare for the possibility of a case. In 2014’s most read blog post, OHSU Medical Director, Dr. John Townes, demystifies details around the virus and our institutional efforts to protect patients and staff.

2. $100 million donation fuels OHSU vision to stop cancer

Inspired by our mission to end cancer as we know it, Phil and Penny Knight issued a $1 billion challenge in September of 2013. In this exciting update, one anonymous donor makes history by giving the largest single gift to-date. An incredible $100 million gift will help fuel our ambitious vision to stop cancer in its tracks. Later in the year, this generous philanthropist unmasked herself in a very playful way.

3. Chocolate and your heart

Cocoa has been long been known for its good taste, but studies have also shown it may exert beneficial cardiovascular effects. So, is chocolate really good for you? Dr. Tina Kaufman, who leads the Heart Disease Prevention program at the OHSU Knight Cardiovascular Institute, breaks down the nutritional benefits of the sweet stuff.

4. Calorie-free thirst quenchers

The OHSU Gimbie health care team.

As Spring weather was heating up, we were all craving a cold beverage or two. OHSU clinical dietician, Tracy Severson, warns us to beware the liquid calories lurking in our warm weather drinks and suggests some refreshing alternatives.

5. Improving women’s quality of life in Ethiopia

Once a year, an extraordinary international medical event takes place, putting women’s health front and center in Gimbie, Ethiopia. In one of the most read posts of the year, Dr. Rahel Nardos, M.D. shares her first-hand experience with this inspiring project, partnering OHSU clinical staff with community health-care providers across the world.

But that’s not all! 2014 was a history-making year. You won’t want to miss these popular stories:



Jessica Columbo is OHSU’s Social Media Manager. She can be reached at You can also join the conversation on Facebook or follow OHSU on Twitter and Instagram.

GET FIT trial leads to improved health, better habits for one patient

Patty McWayne became depressed after being diagnosed with colon cancer in 2004. In 2013, Patty received an invitation to join the GET FIT trial, which aims to improve of the lives of women cancer survivors through regular exercise. This is her story.

My doctors helped me live a normal life after diagnoses of heart disease and diabetes in the 1990s, but I became depressed when diagnosed with colon cancer in 2004. The depression was enough to slow me down at work, while also crippling my self-confidence and sense of purpose. I positioned myself on the couch with the remote control and the wrong kind of food, even though I knew the lack of exercise and unhealthy eating habits would affect my health again. I was scared. For years, I struggled with bad eating habits, obesity and a total lack of exercise.

In late spring of 2013, I received a letter inviting me to participate in a GET FIT clinical trial, which was aimed to learn more about exercise for women cancer survivors between the ages of 50 and 70. I said, “Yes,” hoping it would help me regain a healthy lifestyle.

patty mcwayne

Patty McWayne is a cancer survivor who took part in the GET FIT trial in 2013.

The trial included a bi-weekly strength training program, along with regular monitoring and testing by the School of Nursing staff. Slowly, I began to incorporate the workouts into my regular routine and understand the connections between balance, strength and agility, as well as the connections between weight, blood pressure and blood sugar. I had read about good health for years. During the GET FIT Trial, I began to live it.

The instructor was the best I’ve experienced; she taught me how to work my body in ways I couldn’t accomplish in the past.

Best of all, I was given the opportunity to work out with a group of women cancer survivors. We had physical and psychological bonds in common, and the spirit of those classes will be with me forever.

Now, I’ve lost 20 pounds with more to go. I’ve cut most of my medications in half. My cholesterol and blood pressure levels are normal. My heart is beating normally. I can walk longer distances and up steep hills. I no longer have a difficult time getting to sleep at night, rarely have leg cramps, and eat a whole lot more fruits and vegetables. I even read more and watch less television.

Quality doctors and professional health educators make all the difference in a positive health experience. I am grateful to the OHSU Knight Cancer Institute, the School of Nursing and Oregon Health & Science University for helping me regain my health and positive attitude. They helped me get me off the couch and out into the sun—and sometimes the rain.

This experience has changed my life.

Learn more about GET FIT and submit your name for consideration for the trial.


Matt Wastradowski is a Communications Specialist for the Knight Cancer Institute.



Getting started: 4 simple steps for beginning runners

Running is a simple and cost-effective way to get fit and stay in shape. Getting started is often half the battle. To help you along, our OHSU Sports Medicine physicians have compiled some guidelines for taking your running or walking to a new level:

1.  Begin with a warm up

Develop a dynamic series of stretches to increase blood flow to the working muscles and increase the functional range of motion around the major joints. Click here for a great list of warm-up stretches from Runner’s World.

2.  Use the talk test

A common training error in those revisiting their running program is to start out simply running too quickly.  Endurance is the main training goal, and it’s best achieved by training at a moderate intensity level.  How do you know if you’re running too fast? The simple test is to see if you can talk. If you’re unable to hold a casual conversation while running, you are likely going too fast.

3.  Stay healthy

Injuries are an unfortunate but common part of running. If you have a history of joint injury or develop injuries while running, be sure to get evaluated quickly. Many runners will push through pain and ignore important signs from their body.

OHSU Sports Medicine specialists can help address problem areas and come up with recovery programs that will get you back to running quickly and safely.

4.  Make a training plan

Flying by the seat of your pants can make for an interesting life, but it isn’t a good approach to a training program for runners and walkers. Find the best fit for you, but consider that you need to accurately evaluate your current fitness and strive for a conservative increase in weekly mileage.

Want to learn more? Take a look at a few of our favorite resources below:



Ryan Petering. M.D. specializes in Sports Medicine and Family Medicine. He also has special interest in Pediatric Care, Primary Care Sports Medicine, Recreational Athletes, and Wilderness Medicine.


OHSU awarded 2014 “Most Admired Health Care Company”

By Bob Applegate, Assoc. Dir. Of Community Engagement

Every year, the Portland Business Journal asks more than 500 CEOs around Oregon and Southwest Washington to name their most admired companies in several different categories, including health care.

Leaders in the health care category for Oregon’s Most Admired Companies. Photo courtesy of Cathy Cheney at the Portland Business Journal.

The 2014 results are in, and OHSU is proud to be rated first among its health care peers. Doernbecher Children’s Hospital was rated fourth most admired.

“This year is going to have a lot activity spikes, things that are still noteworthy 50 years from now,” noted OHSU President Dr. Joe Robertson.

Included in that activity is the immense challenge of — and incredible progress toward — raising $500 million to match the $500 million pledge of Phil and Penny Knight. OHSU currently has raised more than $440 million toward the goal.

OHSU, in conjunction with Portland State University and Oregon State University, also opened the $295 million Collaborative Life Sciences Building on the Willamette River. The building houses classrooms for OHSU’s Schools of Nursing and Medicine, as well as the entirety of the School of Dentistry.

Other accomplishments included receiving $30 million in funding from the Gates Foundation for HIV/AIDS research and forming an international partnership with Mahidol University medical school and Siriraj Hospital in Thailand.

“We are grateful for the support of Oregonians and humbled by the recognition of business leaders around the state,” said Dr. Robertson.

Click here to learn more and to see a full list of Oregon’s 2014 Most Admired Companies. And to keep up-to-date with the latest OHSU news, be sure to follow us on Twitter.

Reduce your holiday stress

The holidays are a time of magic—twinkling lights, giddy children, gatherings with family and friends. Except sometimes that magic (and everything it takes to pull it off) takes a toll in the form of stress, and that’s something on nobody’s holiday wish list. While holiday stress can hit anyone, many studies suggest that it hits women harder than most.

To help avoid the stress and strain of the season, take a little time to think about what is most important to you about the holidays and stay focused on those plans and activities.

A useful tool, is the wellness wheel, which represents every aspect of physical and mental health, including spiritual, emotional, intellectual, financial, environmental, social and physical needs. If any one of these areas is neglected, you could be in danger of finding yourself out of balance.

During the holiday rush, it’s easy to ignore the physical — so be sure you are allowing time to focus on exercising and eating right.

Overspending on gifts will add to your financial stress. Make a realistic budget and stick to it.

Find the connection between your intellectual and social wellness by playing some brain-stimulating games with your friends and family at your next get-together.

Keep the wellness wheel handy for “spot checks.” Looking at components of the wellness wheel, spending quality time with family and friends would effectively meet both your emotional and social needs. Or you may prefer to get your environmental and social needs met by volunteering or providing gifts for someone less fortunate.

Finally: Don’t expect perfection. Just because cooking an elaborate meal was your mother’s favorite tradition doesn’t mean it has to be yours. Even during the holidays, it’s OK to say no. If you focus on what is truly most important to you and your family during this special time, it’s easy to let the other distractions fade into the background.


Nicole Cirino, M.D. is the Director, Division of Women’s Mental Health and Wellness at OHSU. She was trained as a Reproductive Psychiatrist and has specialty experience working with mental health issues experienced exclusively by women across their reproductive life cycle. 

Cancer and comedy: Local filmmaker explores the importance of humor

By Matt Wastradowski

In the wake of his mother’s death from breast cancer, 21-year-old Ben Schorr discovered something: It seemed like everyone around him had their own cancer stories. What’s more, the people who shared those stories often added a dose of humor.

His improv comedy teacher at PSU, where Ben studies film and political science, joked about her diagnosis regularly. After his friend’s father had passed away after battling cancer, that friend – the “class clown,” according to Ben – dealt with the loss through humor. It was this ability to laugh in the face of cancer that inspired his latest short documentary, “Cancer and Comedy,” which features an interview with Brian Druker, M.D., director of the OHSU Knight Cancer Institute.

Ben’s mother was diagnosed with chronic myeloid leukemia when he was about 3 years old. She was part of the Gleevec clinical trials, and she lived a relatively normal life for the next 14 years. Ben’s mother was later diagnosed with breast cancer, however, and passed away in August.

“I still feel very lucky,” Ben said. “Because of Dr. Druker’s work, I had those 14 years. I like to look at it as if I’m lucky.”

Ben took improv comedy classes a year ago to cope while his mother’s health was declining; he found out about his teacher’s diagnosis after the class ended and admired her sense of humor about the situation. It reminded Ben of the times he would joke with his own mother about her diagnosis and how frequently others he knew turned to humor in the face of the disease.

This unusual juxtaposition of bleak cancer diagnoses and humor seemed like prime fodder for a potential documentary.

“It feels a little bit less explored,” Ben said.

He visited OHSU in September to interview Dr. Druker about the importance of humor in a field that can be rife with bad news and sad outcomes. Ben quizzed Dr. Druker about his own sense of humor, what he finds funny, how he uses humor to cope and whether humor can change how people feel.

“It was interesting, seeing him from that perspective,” Ben said. “He was a very warm, nice guy. He was exactly the person my mom described, and I understand why she looked up to him so much.”

You can watch “Cancer and Comedy” on YouTube here.

Why 96,000 Square Miles?

OHSU Health Fair at Pioneer Square.

President Robertson is fond of saying that OHSU has a 96,000 square mile campus, serving Oregonians “from Enterprise to Coos Bay, from Portland to Klamath Falls.”

This blog aims to highlight that breadth. 96,000 Square Miles (96K for short) will focus on the people of OHSU, the Oregonians we serve and the ripple effect of our work in Oregon and beyond.

Read more

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