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

Genetic Linkage

Were Ancient Humans Healthier Than Us?

September 1, 2017

Tags: Neanderthal, Denisovan, human genome

A curious thing happened when researchers at Georgia Tech used modern human genome sequences to look back at the possible health of our long-ago ancestors – they found that while the Neanderthals and Denisovans of 30,000 to 50,000 years ago seemed to have been genetically sicker than us, “recent ancients” from a few thousand years ago may actually have been healthier. Their paper, “The Genomic Health of Ancient Hominins,” is published in Human Biology.

How could that be? Perhaps drugs and procedures that enable us to live with certain conditions also perpetuate gene variants that would otherwise sicken us enough to not reproduce. We pass on those genes and inexorably weaken our global gene pool. (more…)

Precision Medicine Initiative: Ricki's Pick for Breakthrough of the Year

December 17, 2015

Tags: Precision Medicine Initiative, DNA, human genome, Francis Collins, President Obama

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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…)

Sequencing the Genomes of Dead People

October 16, 2015

Tags: DNA, bioethics, sequencing, human genome, ASHG

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…)

DNA Day: 20 Years of Writing a Human Genetics Textbook

April 19, 2013

Tags: human genome, DNA, genetics, Gregor Mendel, cystic fibrosis, textbook

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…)

The Curious Genetics of Werewolves

December 27, 2012

Tags: werewolf, hypertrichosis, Ambras syndrome, human genome

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…)

Hidden Meanings in Our Genomes – And What To Do With Mendel

August 20, 2012

Tags: human genome, exome, linkage, mutation, American Journal of Human Genetics, Human Genetics: Concepts and Applications, DNA, Huntington disease, cystic fibrosis, osteogenesis imperfecta, ALS, essential tremor, Gregor Mendel, Ricki Lewis

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…)

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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