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

Genetic Linkage

Eye Melanoma, Media Hype, and Genomic Medicine

August 31, 2016

Tags: melanoma, ocular melanoma, uveal melanoma

The brown area in the lower left of this eye is a melanoma.
Melanoma of the eye presents a case study in the value of diagnosing by phenotype (symptoms and physical presentation) versus by risk genotype Ė a discussion that may impact ongoing efforts to sequence gazillions of human genomes. One recent estimate predicts two billion done by 2025.

The big question: How much genome data will be clinically useful? (more…)

Redhead Gene Doubles Melanoma Risk, Without Sun

April 20, 2016

Tags: melanoma, MC1R, redhead

Variants of the melanocortin-1-receptor (MC1R) gene impart the red hair, fair skin, and freckles of a Prince Harry or Wilma Flintstone Ė and also poorer protection against ultraviolet (UV) radiation and therefore higher risk of developing skin cancers, including melanoma. But a new study published in JAMA Dermatology reveals that MC1R genotype alone more than doubles the risk of melanoma.

The Ginger Gene
Many colorful creatures owe their distinctive phenotypes to MC1R variants, from red pandas and ruffed lemurs, to Golden retrievers and brown cavefish and Kuzakh fat-rumped sheep. Orangutans are an exception Ė their hue arises from a different gene. (more…)

Targeting Cancer: A Basketful of Hope

September 14, 2015

Tags: cancer, precision medicine, basket study, Josť 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 ó precision medicine isnít 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. Itís a monoclonal antibody deployed against the HER2/neu receptor that is overabundant in some aggressive and early-onset breast cancers. Robert Bazellís 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 Zammettís 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, Erinís recovery was one of the first of thousands thanks to this now famous drug. (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 10th edition.
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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