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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

Targeting Cancer: A Basketful of Hope

September 14, 2015

Tags: cancer, precision medicine, basket study, José Baselga, melanoma, MATCH, BRAF, The Cancer Genome Atlas, Zelboraf

Basket studies allow researchers to evaluate considering a cancer's mutations in choosing treatment. (NHGRI)
Targeted treatments for cancer have been extending and saving lives for more than 15 years — precision medicine isn’t a new idea in oncology. Now drugs pioneered on select, specific cancers are, one by one, finding new applications.

The first wave of targeted drug approvals were for cancers associated with specific mutations. Herceptin (traztuzumab) led the way, approved in 1998. It’s a monoclonal antibody deployed against the HER2/neu receptor that is overabundant in some aggressive and early-onset breast cancers. Robert Bazell’s excellent book Her 2 tells the tale.

In 2001 came the blockbuster Gleevec (imatinib), a small molecule tyrosine kinase inhibitor that intercepts signals to divide. Erin Zammett’s My So-Called Normal Life with Cancer relates that story. A very young editor at Glamour magazine when a routine check-up revealed chronic myelogenous leukemia, Erin’s recovery was one of the first of thousands thanks to this now famous drug. (more…)

Celebrating Gleevec – and Basic Research

May 10, 2013

Tags: chronic myeloid leukemia, Philadelphia chromosome, tyrosine kinase inhibitor, Gleevec, cancer, translational medicine, chimeric antigen receptor

Peter Nowell and David Hungerford began the work that led to the successful cancer drug Gleevec (Penn Medicine)
When 23-year-old Glamour magazine editor Erin Zammett Ruddy went for a routine physical in November 2001, she expected reassurance that her healthy lifestyle had been keeping her well. After all, she felt great. What she got, a few days later, was a shock. Instead of having 4,000 to 10,000 white blood cells per milliliter of blood, she had more than 10 times that number – and many of the cells were cancerous.

Erin had chronic myeloid leukemia (CML). Two years before her diagnosis, CML was a death sentence. But the drug Gleevec saved her and many others. It offers perhaps the best example of translational medicine. (more…)

Second Gene Causes Retinoblastoma

March 21, 2013

Tags: retinoblastoma, osteogenesis imperfecta, cancer, mutation

This little boy has heritable retinoblastoma. The mutation originated in him, so he didn't inherit it, but he can pass it on.
In a list of famous genes, RB1 would probably be #1. It’s the tumor suppressor gene whose “loss of function” is behind the childhood eye cancer retinoblastoma, and that Alfred Knudson investigated to deduce the 2-hit mechanism of cancer.

In 1971, the idea that the normal function of a gene could be to prevent cancer was revolutionary. Now a study in Lancet Oncology finds that an amplified oncogene can cause the eye cancer too, with just one “hit.” (more…)

4 Suggestions for Halting the Lethality of Cancer

June 27, 2012

Tags: cancer, PSA, prostate

Brain tumors (photo from Glia, 2002, Ignatova, T. et al, courtesy D.A. Steindler.)

(Originally published at Scientific American, guest blog, June 26)

I had a very strange week. While in Washington, D.C., writing news releases for the Model Organisms to Human Biology: Cancer Genetics meeting sponsored by the Genetics Society of America, I had left, back home in upstate New York, my dear hospice patient. Ruth was nearing the end of her battle with liver cancer. It was jarring to go from holding her hand to listening to litanies of deranged signal transduction pathways and cascades of mutations that cause the damn diseases. (more…)

instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
College Textbooks
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 11th edition, 12th to be published in September 2018.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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