Tag Archive for Genomics

What is Personalized Medicine?


By Richard Saltus

Physicians have long recognized that the same disease can behave differently from one patient to another, and that there is no one-size-fits-all treatment.

In cancer, chemotherapy might dramatically shrink one lung tumor but prove ineffective against the same type of tumor in a different patient – even though tissue samples look identical under the microscope. Side effects and appropriate dosage may vary from patient to patient as well.

The goal of personalized medicine is to match a treatment to the unique characteristics of an individual patient: his or her personal and family medical history, age, body size, and other physical characteristics, and medical test results. But fundamentally, it is the DNA blueprint within cells that strongly influences a person’s risks of disease, how illnesses play out, which drugs are likely to be most effective and with the fewest side effects. This is where the newest phase of personalized medicine is heading.

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Five Reasons for Optimism about Pediatric Cancer Care and Research


By Stephen Sallan, MD

Today, three quarters or more of all childhood cancer patients will be cured of their disease, a higher percentage than ever before. And the numbers will only get better as we learn more about the biology of childhood cancers and develop new ways of treating them.

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Cancer Researcher Values Teaching and Learning


By William Hahn, MD, PhD

Every year, hundreds of postdoctoral fellows and graduate students study cancer research at Dana-Farber under some of the world’s leading scientists. The Dana-Farber Postdoc and Graduate Student Affairs Office recently named the first recipient of its Mentor-of-the-Year Award: William Hahn, MD, PhD, the Institute’s deputy scientific officer and director of its Center for Cancer Genome Discovery. Here, Hahn discusses the lessons he learned from his own mentors and his efforts to instill the same principles in his own trainees.

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Why Do Scientists Use Zebrafish to Study Cancer?


Cancer scientists use a wide variety of techniques to study the growth and development of tumor cells. Laboratory research often focuses on individual cells or tissue samples, but to learn how cancers grow and respond to therapies in living organisms, scientists rely on other experimental models. In recent years, zebrafish have become the model of choice for studying many cancer types. Dana-Farber’s A. Thomas Look, MD, who uses zebrafish in his own work, explains why. Read more

How are genes involved in cancer?


Genes don’t cause cancer, but genetic mutations can. Our cells have about 22,000 genes, which consist of DNA packed into chromosomes inside the cell nucleus. These genes control a wide range of functions, including cell growth and division. When the genes misbehave or mutate, cancer can develop. Read more

When Doctors Encounter Diseases without Names


The complicated meaty machine that is the human body can break down in a remarkable variety of ways. The 9th edition of the International Classification of Diseases (ICD-9) includes more than 16,000 afflictions – everything from the bite of a venomous tropical millipede to injury by falling spacecraft debris.

With all of these dangers, it is truly a wonder that any of us can get out of bed in the morning. And yet any doctor who cares for patients knows that there are many other diseases that ICD-9 has never heard of – medical terra incognita, disorders that have yet to be defined or clearly described.

My colleagues and I are regularly asked to consult on patients with peculiar problems that don’t fit textbook depictions of any known disease, or where there is confusion because several similar diagnoses would fit equally well. Some of these patients have unusual manifestations of well-known medical conditions, but others may suffer from entirely new entities.

Lynne is one such patient with a murky malady. She’s a globetrotting academic whose frequent-flyer-mile accumulation rate dropped after she was diagnosed with an unusual form of anemia called sideroblastic anemia, which she could either have been born with or could have acquired.

Existing tests could not distinguish between these possibilities, and without knowing where the disease originated, no one could tell Lynne what to expect or predict how her condition might evolve.

When I first saw Lynne in Dana-Farber’s Center for Hematologic Oncology, she allowed me to save some extra cells from her blood and bone marrow for future research.

A few months later, at an international symposium in Scotland in May 2011, I heard a European scientist talk about a novel mutation in a gene called SF3B1 that she’d just found in blood cells from people with a form of myelodysplastic syndrome (MDS) that resembled Lynne’s condition.

When I got back to Boston, I called my friend Dr. Rafael Bejar, an extraordinarily talented scientist currently working in the laboratory of Dr. Ben Ebert at Brigham and Women’s Hospital. Raf had met Lynne and knew all the details of her problem. Raf said he could examine DNA from Lynne’s stored cells and look for this new mutation.

Raf found that Lynne’s blood cells have the most common (K700E) mutation in SF3B1, clearly identifying her condition as an unusual type of MDS called refractory anemia with ring sideroblasts. The rest of her cells have normal SF3B1, which meant she wasn’t born with this, and couldn’t have passed it on to her children. Some early reports suggest that this mutation confers a good prognosis.

Lynne was pleased to learn about the molecular clarification of her diagnosis, which we were able to tell her about months before the first papers on these mutations appeared in print in the journals Nature and The New England Journal of Medicine. It will likely be some time before any for-profit clinical lab offers testing for mutations in this gene.

Now we have assembled a collection of cells from other patients with unusual forms of anemia who don’t have SF3B1 or any other known mutation. In collaboration with Dr. Mark Fleming at Boston Children’s Hospital and several other researchers, we’re on the verge of defining several brand-new maladies at the molecular level.

I’ve worked previously at clinical institutions where parking was easier and my daily commute was less painful than it is now. Those hospitals were fantastic places in many respects. But the ability to collaborate with scientists just across the street who are of the caliber of Raf, Ben, and Mark – people who are both brilliant, and enthusiastic about studying patients with the same conditions that I want to understand better – was more limited there.

This is something unique about Dana-Farber: Patients and their doctors have access to a vibrant cohort of scientific collaborators who are second to none in the world, who are making discoveries in real time, and can bring a ray of light where there is darkness.

David P. Steensma, MD, FACP, is a physician in Dana-Farber’s Hematologic Oncology Treatment Center.

Genetic counseling now recommended for children with sarcoma


If your son or daughter has been diagnosed with a type of sarcoma – a tumor in connective tissue like muscles or bones – there are many questions: Will my child make a full recovery? What are the immediate and long-term side effects of treatment?

Most parents don’t consider whether their child will face a second cancer later in life.

However, a link between sarcomas and Li-Fraumeni syndrome, a rare condition that raises a person’s risk of developing one or more cancers to as high as 85 percent, has led genetic specialists at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center to recommend that all child sarcoma patients be offered genetic counseling for Li-Fraumeni syndrome.  Read more