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

Genetic Linkage

Incidental Findings from Genome Sequencing – Nuances and Caveats

March 24, 2013

Tags: genome, DNA, incidental finding, 23andMe, bioethics

A genome sequenced to investigate one disease may reveal another.
You have your genome or exome (the protein-encoding part) sequenced to help diagnose a puzzling set of symptoms, and something totally unrelated, and unexpected, turns up – a so-called “incidental finding.”

Surprises, of course, aren’t new in medicine. The term “incidental finding” comes from “incidentaloma,” coined in 1995 to describe an adrenal tumor found on a scan looking for something else. I had one -- a CT scan of my appendix revealed a polycystic liver. A friend had it much worse. She volunteered to be a control in an Alzheimer’s imaging trial, and her scan revealed two brain aneurysms!

Geneticists have long expected an avalanche of incidental findings from clinical (exome or genome) sequencing. (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…)

Do Cats With FIV Foretell HIV’s Future?

March 13, 2013

Tags: FIV, HIV, AIDS, cats, SIV

Romeo is our third FIV-positive cat.
Since my January 24 blog “My Cat Has AIDS," about my two feline immunodeficiency virus (FIV)-positive cats, we’ve acquired a third, the handsome Romeo. He, too, came to us from Orange Street Cats, on Valentine’s Day.

Romeo was found in an inner city park where people who can barely afford to feed their families nevertheless care for the burgeoning population of stray cats. “His origins are unknown, but I’d been feeding him along with other backyard cats where I live, a short distance from the vet,” said Ethel, the kind woman who saved him. “When Romeo injured his front leg, I trapped him and took him to the vet. The leg wasn't broken, but they determined he is FIV positive, with no symptoms, so I couldn't keep him,” because she already had an adult, indoor cat. (more…)

Personalized Medicine: Read the Chart!

March 10, 2013

Tags: personalized medicine

While we’re busy debating the pros and cons of clinical genome sequencing and tossing around buzzwords like “personalized” and “translational” medicine, I’ve recently caught some health care providers ignoring the archaic skills of communication and common sense. So while we await genome analysis apps and DNA annotators in our doctors’ offices, here are 3 suggestions on how to provide personalized medicine right now:

1. Read the patient’s chart (paper or digital)

2. Listen to the patient

3. Look at the patient

Disclaimer: Today’s blog is anecdotal and non-scientific, but may identify a trend.
(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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