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

Genetic Linkage

Limits of Genome Sequencing Not a Surprise

April 3, 2012

Tags: whole genome sequencing, whole exome sequencing, Ricki Lewis, Bert Vogelstein, Science Translational Medicine

Comparing whole genome (or exome) sequencing to predict common diseases or identify rare single-gene diseases is like comparing the proverbial apples to oranges.
The news is being trumpeted everywhere – whole genome sequencing won’t help the average person predict common illnesses.

This isn’t exactly astonishing to anyone who has taken a genetics course, but the Johns Hopkins team, in Science Translational Medicine, provides elegant evidence to back up the long-held idea that the so-called “complex," common diseases result from so many intertwined inherited as well as environmental threads that using a DNA sequence as a crystal ball just won’t work – at least until more data accumulate. (more…)

Gavin's Story: Whole Exome Sequencing Finds Mystery Mutation

November 19, 2011

Tags: whole exome sequencing, human genome, Gavin Stevens, Ming Qi, Leber congenital amaurosis, Foundation for Retinal Research, Knome, Complete Genomics, John Chiang, CEP 290, LRAT, CUBY20, Beijing Genomics Institute, DNA, rare disease

In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the
Foundation for Retinal Research
. Betsy Brint, co-head of organization, was calling out what sounded like code words – CEP290, (more…)

Personal Genome Sequencing: Too Much Information?

October 18, 2011

Tags: whole exome sequencing, human genome, DNA, Michael Hayden, James Watson, Han G. Brunner, International Congress of Human Genetics, Complete Genomics, Radoje Drmanac, Segolene Ayme, Joris Veltman, Luanne Hudgins, OrphanNet, rare diseases, Huntington's disease, BRCA1, Lynch syndrome, incidentaloma, Leslie Biesecker, National Human Genome Research Institute, Personal Genome Sequencing: Too Much Information?, ICHG2011

October 11-15, 6,200 researchers and clinicians met in Montreal for the 12th International Congress of Human Genetics. After my brain recovered from the long days of meetings, one panel discussion emerged as my favorite: what I thought was going to be a dull comparison of DNA sequencing technologies turned out to be a spirited look at (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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