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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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‘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…)

Why I Don't Want to Know My Genome Sequence

November 2, 2012

Tags: exome, genome, human genome project, Craig Venter, James Watson, Ozzy Osbourne, Francis Collins

Even after writing 10 editions of a human genetics textbook, I don't want to know my genome sequence. Yet.
Famous folk have been writing about their genome sequences for a few years now. But when I received two such reports at once last week – about genetics researcher Ron Crystal, MD, and a hypothetical (I think) story about President Obama, I knew it was time to take action.

Or, in my case, inaction. (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…)

The “Valley of Death” Looms for 8 Kids With a Rare Disease

May 24, 2012

Tags: gene therapy, Hannah's Hope Fund, Valley of Death, Francis Collins, Johnny Depp, Kim Karsdashian, Steve Gray, Brad and Angelina, Bill Clinton, Romney, Obama, FDA, Julie Roberts, Michael J. Fox, Christopher Reeve, giant axonal neuropathy, GAN

Hannah Sames, here with her dog Ginger, awaits gene therapy. (photo: Dr. Wendy Josephs)
The pharmaceutical industry rightly calls the stage in drug development between basic research and clinical trials the “Valley of Death.” This is when a potential treatment that’s worked in mice, monkeys, and the like catapults to a phase 1 clinical trial to assess safety. It’s rare.

Francis Collins, MD, PhD, director of the National Institutes of Health, calls this period “where projects go to die.” The reason: $.

Matthew Herper writes in Forbes that the cost of developing a new drug is $4-11 billion, not the $1 billion that Pharma often claims. Yet even that $1 billion is unimaginable, especially when you put a face on a rare disease and witness what the family goes through to leap to phase 1.

For me, that face belongs to 8-year-old Hannah Sames, of Rexford, New York. (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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