Posts Tagged ‘Genetics’

Mayo Clinic Cancer Center team in Arizona completes whole human genome sequence on patient with blood cancer

November 25, 2009

The concept of personalized medical treatment based on a patient’s DNA is one small step closer to becoming a reality.

A Mayo Clinic Cancer Center team in Arizona recently completed its first whole human genome sequencing on a patient suffering from multiple myeloma, a cancer of the bone marrow.

In a matter of weeks, the Mayo Clinic team, led by hematologist Dr. Keith Stewart and Dr. Jan Egan, a post doctoral fellow, in conjunction with Dr. John Carpten and a team of researchers at the Translational Genomics Research Institute (TGen) in downtown Phoenix, completed multiple copies of a whole human genome sequence, capturing an entire snapshot of the patient’s bone marrow cancer cells through various stages of the disease.

“We were interested in establishing the reasons why cancer patients become resistant to chemotherapy drugs or alternatively, why they are sensitive to the drugs in the first place,” said Dr. Stewart, of the groundbreaking research project which sequenced approximately 60 billion different DNA bases in less than a month after the patient’s samples had been prepared. 

This genetic research project was a first for the Mayo Clinic Cancer Center and a key milestone on the way to individualized genome based cancer care.

While the practice of genomic sequencing has been around for nearly a decade, Dr. Stewart said this Mayo Clinic-led project was particularly unique in that genetic samples were gathered at four different time intervals over the course of about four years, ranging from the onset of the malignant cancer diagnosis to the patient’s third relapse of the disease.

“We think by studying the whole genome rather than one gene at a time, we’ll be able to pinpoint genetic mutations which make this cancer resistant to chemotherapy,” said Dr. Stewart, explaining this whole genome sequence has the potential to reveal clues which may help pave the way for the development of new cancer fighting drugs or circumvent resistance to current chemotherapy drugs.

Want to learn more? In the video below Dr. Stewart speaks about this groundbreaking project. 

This post was submitted by communications consultant

Julie Janovsky-Mason at Mayo Clinic in Arizona.

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Madeline Stockbridge: My Mayo Clinic Story

July 16, 2009

Editor’s Note: Madeline Stockbridge submitted this story by email after receiving the print edition of the Sharing Mayo Clinic newsletter. She wrote “After reading the latest issue of Sharing Mayo Clinic, I had to submit my story. Ning Chieng’s words ‘The sky seems bluer and the air smells fresher.’ were exactly what I said to my husband after this year’s cancer free check-up at Mayo -a five year milestone. I owe my health to the Mayo Clinic.”

“Promise me you’ll get check-ups” my brother, Howie, pleaded as he was dying of colon cancer at the age of 35. This was in the 1970’s and even though we’d lost our mom to this cancer 5 years earlier, little was known about the genetic link. I tried to keep my promise by making an appointment with an internist soon after losing my brother. I was 33 at the time and the doctor examined me but then said, “You’re a perfectly healthy young woman but if you’re going to go home and worry about cancer I can’t help you.” I felt like a hypochondriac and avoided going back.

Several years later I had symptoms that I could not ignore and went to a very caring, concerned doctor who ordered tests to discover that I had precancerous tissue in my uterus and needed a hysterectomy. Coming so close to cancer made me think about my brother and I decided I should check out having routine screenings for colon cancer. I started having colonoscopies every 3 years as was the protocol.

In 2004 the gastroenterologist stood in the doorway of the recovery room after completing my colonoscopy and informed my husband and me that I had cancer and needed my entire colon removed. We went home stunned and in shock and phoned our daughter living in OR who was expecting to see us at the airport the next day. She immediately researched on the computer and with my husband’s cousin who is a doctor. When she called us back it was with recommendations of medical facilities who knew about genetic colon cancer. We decided on the Mayo Clinic as it is closer to our home in WI and in my insurance network. As my husband called the clinic I’m thinking, how will we get in we’re just ordinary people not the Shah of Iran. They took us immediately and were so incredibly concerned about my welfare that we were instantly bowled over. When my husband’s cousin recommended a particular surgeon, we timidly asked if it would be possible to have her do my surgery and the nurse said, “Let me check her schedule.” The operation was a success and they left me with a foot of colon and a normal life. Most importantly we learned all about the genetic syndrome I have called Lynch and the importance of annual screening.

I’m healthy and alive and grateful for the research my family did plus the outstanding care I received and still receive at the Mayo Clinic. My mother and brother did not get the opportunity to see the advances research about genetic conditions has yielded. My brother didn’t know it at the time but he saved my life, which is his legacy.

If you would like to share your Mayo Clinic story as Madeline did, click here for options.

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