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Ricki Lewis

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. Read More 
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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. Read More 
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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.  Read More 
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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  Read More 
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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. Read More 
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New Roads to Drug Discovery for the New Year

December 22, 2011
Tags: fda, drug pipeline, Fabry disease, Angelman syndrome, lung cancer, Pompe disease, Gaucher disease, Alzheimer’s disease, Huntington’s disease, Parkinson’s disease, Johns Hopkins Malaria Research Institute Benjamin D. Philpot, George Dimopoulos, Francis Collins, Christopher Hitchens, Ricki Lewis, Jeong-Sun Seo, Genome Medicine Institute Seoul National University, Macrogen Inc., Scott Garman and co-workers at the University of Massachusetts at Amherst, genomic imprinting, protein misfolding, genetic modification, Anopheles, malaria
In this age of expiring drug patents and stalled pipelines, I was pleasantly surprised to find in my morning batch of news releases four reports of promising, eclectic ways to fight diverse diseases. The  Read More 
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