Glenn Nichols, surrounded by his hospice team. The author is in yellow.
December 17, 2015
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‘Tis the season for Science
magazine to name their Breakthrough of the Year, a designation that typically irks me because it implies that science happens suddenly and we all know that of course it doesn’t.
FROM MAN TO MOLECULE TO BREAKTHROUGH
The Breakthrough of the Year began as the Molecule of the Year, which began in 1989 inspired by Time Magazine’s
Man of the Year, before said magazine realized that half of us are female. Early Molecules of the Year included such celebrities as p53
and nitric oxide. (more…)
October 16, 2015
Last Wednesday, at “Career Night” during the American Society of Human Genetics annual conference in Baltimore, I was stationed next to Robert Steiner, MD, from the Marshfield Clinic Research Foundation in Wisconsin. With young scientists circling us like electrons around nuclei, I never got the chance to break away to talk to him. But I did overhear him discussing the Genomic Postmortem Research Project, an effort to sequence the genomes of 300 dead people.
I was fascinated.
Would knowing the information encoded in the DNA of the deceased have changed their health care? I went to the talk on the project the next day to find out about this clever test of the value of genome sequencing. (more…)
April 19, 2013
10 editions of my textbook chronicle the evolution of genomics
This month we celebrate the DNA anniversaries: unveiling of DNA’s structure in 1953, and the human genome sequence in 2003.
From now until DNA Day, April 25, bloggers will be worshipping the human genome. Nature
will offer podcasts (“PastCasts”) and last week, Eric Green, director of the National Human Genome Research Institute, spoke to reporters
, summarizing the “quantitative advances since the human genome project.”
It’s also the 20th anniversary of my non-science majors textbook, Human Genetics: Concepts and Applications
. Writing the 10 editions has given me a panoramic view of the birth of genomics different from those of researchers, physicians, and journalists. Here are a few observations on the evolution of genetics to genomics, as I begin the next edition. (more…)
December 27, 2012
The "wolf boy" brothers have Ambras syndrome, an autosomal dominant condition that may have inspired the werewolf legend (Gary Moore photo).
Growing up in the 1960s, I collected monster cards: The 60-foot-man and the 50-foot woman; body doubles gestating in giant seed pods; unseen Martians that sucked people into sand pits and returned them devoid of emotion, with telltale marks on the back of the neck. One card featured a very young Michael Landon in “I Was a Teenage Werewolf.”
Forgive my lapse in political correctness, but I recalled those cards when I saw the word “hypertrichosis” in a recent paper in PLOS Genetics
because, unfortunately, the condition is also known historically as “werewolf syndrome.” (more…)
August 20, 2012
Gregor Mendel: should he stay or should he go (in textbooks)? (National Library of Medicine)
Summer reading for most people means magazines, novels, and similar escapist fare, but for me, it’s the American Journal of Human Genetics (AJHG). Perusing the table of contents of the current issue tells me what’s dominating this post-genomic era: information beyond the obvious, like a subtext hidden within the sequences of A, (more…)
November 19, 2011
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…)
October 18, 2011
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…)
October 1, 2011
It’s been a strange week. The tenth edition of my human genetics
textbook was published, just as 23andMe
announced that they now offer whole exome sequencing, for $999. (more…)
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
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.
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.
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.
NPR WOSU Public Media
The Science of Gender Identity (All Sides with Ann Fisher)
DNA Science blog posts at Public Library of Science
My weekly blog posts at DNA Science cover breaking genomics news, often as personal stories, historical perspective, or looking ahead.
NORD Breakthrough Summit
Personalizing Medicine - Hannah's Story
Genetics and Reproduction: How Far Should We Go?
Interview with Filament Communications
Ricki Lewis on the Difference Between Writing About Science and Science Writing
A one-hour interview, mostly about why gene therapy has been beneath the radar.
Answers for the Family (http://answers4thefamilyblog.com) on www.LATalkRadio.com
Voiceamerica radio show
Kathryn Vox radio show, including "The Forever Fix"
Publishers Weekly starred review
first advance review for The Forever Fix
Advocates for published authors since 1912