When Bad Things Happen to Famous People

In a press release issued earlier this week, former NBA star and actor Kareem Abdul-Jabbar announced that he has been diagnosed with leukemia. Specifically, he has chronic myeloid leukemia (CML). Abdul-Jabbar went on to say that his disease can be managed by taking daily oral medication and he expects to live a long healthy life.

With leukemia? How is that possible?

Abdul-Jabbar has benefited from one of the first and most exciting applications of the translational research I have blogged about in the past.

Before 2000, CML was treated with a combination of a chemotherapy drug called cytarabine and another drug called alpha-interferon. Patients treated with this combination usually responded well, but none were cured. The only curative treatment was a bone marrow transplant, and in adults, bone marrow transplantation carries a significant risk of death.

So how will Kareem Abdul-Jabbar lead a long healthy life by just taking a daily oral medication?

The answer lies in the molecular biology of CML. It shows how basic research, undertaken for no reason other than to understand the biology of cancer, can lead to unexpected therapeutic breakthroughs. Such research can transform a disease like CML from one that kills without a bone marrow transplant into one that is managed just like high blood pressure.

Here’s how it happened:

Working in Chicago in the 1970’s, Janet Rowley discovered that the “Philadelphia Chromosome,” an abnormal chromosome seen only in the leukemia cells of patients with CML, is actually composed of pieces of two different chromosomes. Her idea, that so-called chromosome translocations could result in the creation of new genes that can cause disease, was heretical at the time, but is now a part of the standard dogma of oncology. She was rewarded with a Lasker Award (often called the “American Nobel”) in 1998.

Subsequent research demonstrated that the Philadelphia Chromosome instructs the leukemia cells to make a new enzyme (called a tyrosine kinase) that causes the leukemia.

Researchers led by Brian Druker eventually developed a drug that blocks the activity of the tyrosine kinase that results from the Philadelphia chromosome. This drug, called imatinib (the trade name is Gleevec), is a pill that, taken daily, kills CML leukemia cells. This work was also rewarded with a Lasker Award in 2009.

The net result of the work of Dr. Janet Rowley, Dr. Brian Druker, and a host of others is that CML has been transformed from a disease curable only by bone marrow transplantation, into a disease that can be managed as a chronic condition, by taking pills every day. An incredible change over a short period of time!

This is the model of basic and translational research those of us in the field emulate, and the prime example of targeted therapy for cancer.

Work that started out as very basic science, motivated only by a desire to understand biology, has led to a transformative new medicine, and now Kareem Abdul-Jabbar (and many people far less famous than him) should be able to lead a healthy, active life taking daily oral medication, despite having leukemia.

Related Post:
When Translational Research Really Translates

As Breast Cancer Awareness Month Draws to a Close

As breast cancer awareness month draws to a close, I wanted to highlight a few breast cancer posts from other medical bloggers:

Suture For a Living asks: "Is Breast Cancer Over-Diagnosed?"

Bayblab writes about research on a diabetes medication killing breast cancer stem cells.

Science Update Blog discusses claims that we are "Two years from breast cancer cure".

Highlight Health's Allison Bland says "The Review is in: Lifestyle Changes Prevent Breast Cancer
and Healthcare Hacks discuss the benefits of weightlifting in breast cancer survivors.

If you've found any interesting breast cancer blogs or posts, link to them in the comments!

Related posts:
Does Vitamin D Help Prevent Breast Cancer?
Breast Cancer Risk & Alcohol
Cancer Stem Cells and Familial Cancer Risk for Breast Cancer

The Sarcoma Program Goes 21st Century

Modern technology impacts everything we do. The very fact that you are reading these words attests to how technology touches your life.

Well, the Johns Hopkins Sarcoma Center has engaged Web 2.0, too. If you follow this link, you will hear a podcast featuring my partner, Dr. Kristy Weber, the chief of orthopedic oncology at Johns Hopkins.

Bruce Shriver, one of the founders of the Liddy Shriver Sarcoma Initiative, asked me about chemotherapy for high grade sarcomas, and you can see that video here. An article in their online newsletter, ESUN, discussing my laboratory's research, is here.

Over time our group will be producing more podcasts. I will post links to them as they appear.

Related Posts:

Sarcoma Video

Hear Me on the Doctor Anonymous Show!

I'm on Facebook!

I went in to say "Good bye"

We knew this day was coming. Over the summer her cancer came back even though she was getting chemotherapy. We switched gears, giving radiation and chemotherapy aimed at controlling pain, no longer at curing disease. But that doesn’t make this day any easier.

Overnight, last night, it became harder to breathe and her pain worsened. A chest x-ray showed almost no air getting to her left lung. Hoping there was fluid that could be removed, she had a CT scan today; but there was no fluid, only tumor. Tumor that hadn’t been there 10 days ago.

I went in to the hospital today, to see her one last time before she went home. We watched some of the football game together. We talked about her kindergarten teacher, a brave woman who was a tremendous support before she died of breast cancer in August. She told me about the tombstone she wants – a softball diamond with a girl sliding into home plate, with a caption that reads, “Safe at home!”

But rather than complaining, or asking “why me?” the young woman and her family had different plans to discuss. Their community had raised a large sum of money to help cover medical expenses, and there is going to be a lot left over. As her father said, “The community has done a lot for us. We need to give something back.” So, on the day she was going home, my patient was deciding how she was going to help her community.

They decided to give some money to a fund established in memory of her kindergarten teacher. They decided to give some money to a neighbor who, because of sudden illness, had fallen months behind on his mortgage payments. And they talked about how they could still contribute to Ewing sarcoma research. “Just because this is happening to me, doesn’t mean I don’t want to keep trying to help,” she said.

Photo Credit
I hope that when I am in her situation, I can show half as much grace as she did this afternoon.

Related Posts:

"I don't know how you do your job"
"Oh, by the way..."

The Human Spirit

When My Patients Die

It's Wednesday... The Doctor is Playing Golf

What a horrid, 50's-era cliche!

But today, it was true. This afternoon I played golf in a fundraising tournament for the Heather Brooke Foundation. This is a foundation named in honor of a patient with Ewing's Sarcoma that I once helped care for. When Heather passed away, her mother channeled her grief into helping others. The Heather Brooke Foundation exists to help conquer childhood cancer and to help and educate the families of children with debilitating illnesses.

Today was a beautiful day for golf... if you like playing in gale force winds! Of course, if you're as terrible as I am (other than Putt Putt, today is the 3rd time I've played golf in my entire life), the wind really doesn't matter so much.

But for my buddy Dean, who really plays quite well, the wind was a problem.


We played at The Timbers at Troy, a beautiful local course. It was a fabulous day, and everyone seemed to have a great time.

Last year's tournament raised enough money to buy a PCR machine for my lab. With the help of this machine, we generated the preliminary data that convinced the National Comprehensive Cancer Network to fund our clinical trial for patients with recurrent and refractory sarcomas. You should have heard the applause when I made that announcement at the post-tournament lunch!

Yes, it was a beautiful golfing day.

Related Posts:
When Translational Research Really Translates
Johns Hopkins Team Sarcoma 2008

More About Patients and the Press

I have blogged before when stories about my patients (and their families) appeared in local newspapers. But this time it’s different. This time, my patient is the author!

Let me explain.

Phil (he gave me permission to blog about this) was receiving radiation therapy at another institution. He was suffering one of the common side effects – burning skin. Realizing that the redness and burning are caused by inflammation, he had a clever idea. With the permission of his radiation oncology team, he tried an over the counter anti-inflammatory cream. It worked! His skin improved dramatically.

Photo Credit

The best part is what Phil did with this experience. He didn’t just tell his treating team. He didn’t just tell his friends. He wrote a case report describing the experience, and with the help of his radiation oncologist, he published it. In a journal called “The Oncologist.”

You can read the paper here, but only if you have a subscription (or are accessing the internet from an institution with one).

Most doctors say that we learn from our patients. But how many have read articles in the medical literature authored by our patients?

Way to go, Phil!

Related Posts:
One of my patients is famous
Another patient makes news!
A Famous Parent

A Famous Parent

In the past, I have blogged about patients of mine who have made the news. This past week, while I was reading the newspaper before going to work, my eye was caught by an article in the Sports section about a man with a familiar name.

(Note: All personal information in this post is also seen in the article in the Washington Post, so there is no violation of confidentiality. Also, some links will require a subscription to washingtonpost.com to see.)

The article was about the head football coach at the University of Richmond, Michael London. The article spoke about Mr. London in glowing terms, talking about how he grew up in Richmond, played defensive back for the University of Richmond, and eventually became a detective in the Richmond Police Department’s street crimes unit.

See the video here.

Eventually Mr. London left the police department and became a football coach. I met Michael London when he was the linebackers coach for the University of Virginia’s football team. At this point his daughter had been diagnosed with Fanconi Anemia and needed a bone marrow transplant. The London family investigated several cancer centers, and settled on Johns Hopkins.

The Washington Post article related the story of Ticynn’s transplant, and how Mike felt about being the donor. Reading about a transplant I had directed, but from the father’s perspective, was very moving. We doctors rarely truly know how our patients perceive what they are going through. We usually only know what they tell us. This time, I got to read how a patient’s family dealt with a transplant without the filter that accompanies talking with a doctor.

I remember Mike, and I remember Ticynn. It was an honor to take care of the London family, and I’m thrilled Ticynn did so well (and continues to do well). Reading an article like this, and seeing how our medical encounter fits into the arc of Mike London’s life was a fabulous experience. I only wish I could see all of my patients’ lives in this way.

Related Posts:

Another Patient Makes News

One of my Patients is Famous

Therapeutic Cloning Takes A Big Step Forward

Leber’s Hereditary Optic Neuropathy
Leigh Syndrome
Myoneurogenic Gastrointestinal Encephalopathy

What do these disorders have in common? They are all mitochondrial diseases.



What is a mitochondrial disease? Mitochondria are the parts of a cell that are responsible for generating energy. Mitochondria contain DNA, just like the nucleus does. Mutations in mitochondrial DNA can cause them not to function correctly, and some of these mutations cause the diseases listed above (and others).

When a baby is conceived, we think of the baby’s DNA as coming half from the mother and half from the father. That is true for the DNA in the nucleus, but not true for mitochondrial DNA. All mitochondrial DNA is inherited from your mother.

As a side note, the fact that all mitochondrial DNA is inherited from the mother is the basis for anthropological studies that allow scientists to trace the origins of humanity back to “Mitochondrial Eve” in Africa.


Since all mitochondrial DNA is inherited from the mother, replacing mitochondrial DNA that carries a disease-causing mutation with mitochondrial DNA from another source would prevent a woman from passing on such a disease to her children.

That is the basis for the work by Shoukhrat Mitalipov’s group at the Oregon Health and Science University published online in Nature on August 26. This group took an egg from a female monkey and removed the nucleus, replacing it with the nucleus from a different female. This hybrid egg, with nuclear DNA from one female and mitochondrial DNA from another female, was fertilized, and the resulting embryo was allowed to develop. Not every embryo developed normally, but some developed into seemingly normal monkeys like the ones shown above.

This approach would allow a couple with a family history of mitochondrial disease on the mother’s side to have children with mitochondria donated by an unrelated woman, and they could have children with no risk of developing the disease.

The monkeys described in the paper have genetic contributions from 3 adults. Does that mean there are three parents? I guess that depends on how you define “parent.” If you are a parent simply by virtue of having contributed DNA to a child, then yes, these monkeys have 3 parents. Of course, if a parent is defined as the adults who raise you, then a child conceived in this way would have 2 parents. The ones who raise the child.

Experiments like these raise huge ethical issues. Therapeutic cloning like this introduces changes directly into the germline (the DNA that is passed from parent to offspring), something that has long been taboo in the mainstream scientific community. It also raises interesting custody issues (does the donor of the mitochondrial DNA have any parental rights?). I’d be interested to hear what people think about this.

Like it or not, we are on the verge of a new era of genetic medicine. Some aspects of genetic medicine will not be controversial (tailoring medical treatments based on the presence of specific mutations), but other aspects are sure to raise questions (like the experiments described in this paper). It is critical that we begin to have serious, society-wide discussions about these issues, before it is too late and the discussions become arguments.

Related Posts:

Cancer Stem Cells and Familial Cancer Risk for Breast Cancer

Stem Cells, or "A Rose By Any Other Name..."

Vitamin D in the Spotlight -- Again

Last year, I blogged about vitamin D as an agent to prevent breast cancer. My interest in vitamin D began when I found an ad promoting the health benefits of tanning salons because the exposure to ultraviolet light increases production of vitamin D, something most adults get too little of. Mostly, vitamin D is thought of as important for bone strength, and as something helpful in preventing osteoporosis.

Research presented at the 2008 meeting of the American Society of Clinical Oncology demonstrating that vitamin D may play a role in preventing breast cancer caused a huge sensation. There is also evidence that vitamin D may prevent colon cancer. Of course, everything about nutrition is complicated, including vitamin D needs – too much vitamin D can be a bad thing. Proper balance is everything. Moderation in all things.

As complicated as understanding the role of a vitamin in the health of an adult can be, it is even harder in children, who are growing and therefore can have changing needs. An important study investigating the prevalence of vitamin D deficiency in children and the implications for heart disease was just published in the journal Pediatrics, the official journal of the American Academy of Pediatrics.

A team led by Michal Melamed, from Albert Einstein College of Medicine in New York, surveyed the vitamin D levels of over 6,000 children registered in the National Health and Nutrition Examination Survey and correlated these levels with various cardiovascular risk factors. Their surprising results? Almost 10% of children in the US are vitamin D deficient, and fully 61% were vitamin D insufficient (meaning their levels were too low, but not low enough to be called deficient).

Why is this a problem? Low vitamin D levels were correlated with higher blood pressures and lower levels of high-density lipoprotein (HDL, or “good” cholesterol). Both of these are significant risk factors for heart disease in adults. This finding provides a key link between childhood nutrition and the development of heart disease in adulthood.



This is potentially a very important study. The question of why some adults develop heart disease while others do not is a complicated one, and many of us have long believed that adult disorders can have their roots in childhood. This study supports that belief, and also strongly supports the idea that intervention in the health of a child can have profound implications throughout her life.

Related Posts:

Does Vitamin D Help Prevent Breast Cancer?

Is Vitamin D the Wonder Drug of the 21st Century?