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

Genetic Linkage

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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ĎTis 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 doesnít.

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 Magazineís 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…)

Genes That Protect Against Dementia (Maybe)

December 10, 2015

Tags: dementia, Alzheimer's, vascular dementia, kin selection

Elders with excellent cognition and memory help their grandchildren survive.
"Survival of the fittest" is one of the most misunderstood terms in biology. Evoking images of physical prowess, it actually refers to an individual inheriting traits that increase the chances of having fertile offspring, such as brilliant plumage or a high sperm count. But according to an intriguing study published recently in (more…)

A Conversation with CRISPR-Cas9 Inventors Charpentier and Doudna

December 2, 2015

Tags: CRISPR-Cas9, gene editing, genome editing

CRISPR-Cas9 works like scissors on double-strand DNA. (NHGRI)
At the American Society of Human Genetics meeting in October, CRISPR-Cas9 inventors Jennifer Doudna and Emmanuelle Charpentier accepted the Gruber Genetics Prize, then stopped by the press room. For me, this was a little like sitting down with Bono and Bruce Springsteen, but the women were wonderfully down-to-earth, and a little stunned at all the attention since they published their key paper in 2012 on the technique that is speeding gene editing and making genome editing a reality.

This week an International Summit on Human Gene Editing held in Washington DC discussed the potential promises and pitfalls of gene editing technology. A terrific review is here. For those of us who were around at the debut of modern biotechnology in the 1970s, itís dťjŗ vu all over again. I hope the outcome will be the same. Although concern over recombinant DNA technology back then began with alarm, it basically ended with not triple-headed purple monsters, as my then-grad-school advisor dubbed the concern, but with a new and more targeted source of drugs, beginning with human insulin.

Below are selected comments from Drs. Doudna (a Howard Hughes Medical Institute Investigator and professor of molecular and cell biology and chemistry at the University of California, Berkeley) and Charpentier (director of the new Max Planck Institute of Infection Biology in Berlin) from their talks and visit to the press room in October. Iíll cover here what I didnít a few weeks ago here and in Medscape to accompany the conference. (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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