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

Genetic Linkage

Male DNA in Female Brains Revisited

October 25, 2012

Tags: microchimerism, prenatal diagnosis, genetic testing, systemic sclerosis, cell-free fetal DNA, non-invasive prenatal testing

Fetal cells remain in moms -- that isn't news. But the discovery of fetal DNA in women's brains is. (credit: Jay Shendure lab)
“Some women actually have men on the brain” beckoned the headline from the LA Times on September 27, echoing an article in PLoS One describing the discovery of male fetal DNA in the brains of pregnant women. It was “an astonishing finding,” according to the newspaper, necessitating “a new paradigm of the biological self” according to lead author J. Lee Nelson of the Fred Hutchinson Cancer Research Center and the University of Washington.

I suspect Dr. Nelson was quoted out of context, for the idea of two genetically distinct populations of cells, or their DNA, residing in one individual isn’t new. It’s called microchimerism. (more…)

Prenatal Genetic Testing: When is it "Toxic Knowledge"?

October 18, 2012

Tags: prenatal genetic testing, chromosomal microarray, copy number variant, autism, developmental delay

Can prenatal genetic test results destroy the joy of pregnancy? (Credit: Jane Ades, NHGRI)
When I was a fetus, I was left alone. My amniotic fluid and chorionic villi were untouched, and I arrived apparently normal, except for a mark on the part of my anatomy where a bullet “directly bit” Forrest Gump.

Perhaps that’s too much information. (more…)

From Rapid-Aging Disease to Common Heart Disease

October 9, 2012

Tags: Francis Collins, progeria, farnesyl transferase inhibitor, Progeria Research Foundation, lonafarnib, progerin, lamin A, Mark Kieran

Dr. Francis Collins, Director of the NIH, began pursuing a treatment for progeria, the rapid-aging disease, early in his career.
Last week I looked at how Dr. Francis Collins became involved in the quest to discover the genetic defect that causes the rapid-aging disorder Hutchinson-Gilford progeria syndrome. Preliminary results of a possible drug therapy -- one originally developed to treat childhood brain cancer -- were about to be published. Dr. Collins isn’t on that paper, perhaps sidetracked with things like running the NIH.

We All Have Progerin
Between the progeria gene discovery in 2003 and the recent repurposed drug news lies perhaps the most important paper of all: a 2010 report comparing the arteries of two children with progeria who’d died of heart attacks – a girl just under age 10, and a boy aged 14 – to blood vessels from 29 people. (more…)

Progress for Progeria

October 3, 2012

Tags: Francis Collins, progeria, farnesyltransferase inhibitor, Progeria Research Foundation, lonafarnib, progerin, LMNA, lamin A, aging

Megan and Devin have the rapid-aging disorder progeria. (Photo courtesy of the Progeria Research Foundation)
Surely progeria is among the saddest of genetic diseases, and one of the rarest. The recent finding that a shelved cancer drug (lonafarnib) may provide a treatment is good news – for all of us.

An infant with progeria looks normal, but when he or she is between the ages of one and two, parents (more…)

Human Embryonic Stem Cells Finally Reach Clinical Trials: Maurie’s Story

October 3, 2012

Tags: human embryonic stem cells, Advanced Cell Technology, Wills Eye Institute, Stargardt Disease, Foundation Fighting Blindness, Maurie Hill

This is what Maurie Hill sees with her left eye covered when observing the eye chart from a meter away (credit: Derek Bove)
On July 11, Wills Eye Institute ophthalmologist Carl Regillo delicately placed 100,000 cells beneath the retina of 52-year-old Maurie Hill’s left eye. She was rapidly losing her vision due to Stargardt disease, an inherited macular dystrophy similar to the much more common dry age-related macular degeneration (AMD).

Maurie’s disease was far along, the normally (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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