The Forever Fix gang: Corey Haas with book, surrounded by mom Nancy and dad Ethan Haas, Ricki Lewis on left next to Lori and Hannah Sames. At book signing 3/24/12, Barnes + Noble, Albany NY.
Glenn Nichols, surrounded by his hospice team. The author is in yellow.
January 29, 2016
A “good” animal model is one that has the same symptoms of a disease that we do, right?
Not always. Sometimes we can actually learn more when an animal is not a perfect model; their good health can reveal new points of intervention. That’s the case for cystic fibrosis, according to findings published in Science
. Mice with cystic fibrosis (CF) that do not develop airway infections hold a chemical clue to how people with CF might do the same. (more…)
January 29, 2016
Genome sequencing hides chromosome rearrangments -- which may be clinically very important.
In this age of genome sequencing, we can lose sight of the importance of how our genomes are distributed over 23 pairs of chromosomes. Rearrangements of the pairs are invisible to sequencing, because the correct amount of genetic material is present.
A recent genetic counseling session reminded me of a chromosomal quirk that flies completely under the radar of genome sequencing, yet if it turns up in two copies in a bunch of people who have sex, could actually begin a second human species, who have 22 pairs of chromosomes. (more…)
January 12, 2016
Hannah Sames will have gene therapy in March, after an 8-year effort from her family. Go Hannah!
Eleven-year-old Hannah Sames can still curl her toes, just barely. But time is running out.
If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical trial for gene transfer to treat giant axonal neuropathy (GAN), the disease might halt – she may even regain function, as mice did.
It’s been an 8-year wait. So Facebook
friends call 2016 “Hannah’s year.”
The first sign that something was amiss (more…)
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…)
December 10, 2015
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…)
December 2, 2015
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, it’s déjà 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. I’ll cover here what I didn’t a few weeks ago here
and in Medscape
to accompany the conference. (more…)
November 24, 2015
I love watching the turkeys on Martha’s Vineyard. They travel in small family groups of two parents with chicks and adolescents, coalescing into larger tribes.
When it rains, wild turkeys go about their business, pecking at food – I’ve yet to see one raise it’s mouth and drown. And they have feelings. My daughter and I once watched as 4 turkeys stood around a comrade who’d just been run over, clearly distraught. None left, even as cars went by. (more…)
November 14, 2015
(Great Ormond Street Hospital)
I had planned to blast last Thursday’s news of the use of gene-editing to save a British baby from aggressive leukemia. “Two months later, Layla was cancer-free,” proclaimed one of many enthusiastic reports.
I’m always skeptical when I hear the words “cancer” and “cure” in the same sentence, let alone uttered so soon after treatment and without an accompanying technical paper so I can see the data. But when I considered the timing of unfolding events, I realized that the seemingly premature reporting of Layla’s rapidly restored health just might add an important point to the heated discussion over gene and genome editing. That is, can we keep the promising clinical applications on somatic cells, while forbidding the Frankenstein scenarios of germline manipulation? (more…)
October 28, 2015
Jono Lancaster spoke at the National Organization for Rare Disorders (NORD) Breakthrough Summit, October 21.
When Jono Lancaster
was born 30 years ago, his parents took one look at his face, and abandoned him. Today Jono, who has Treacher Collins syndrome, travels the world meeting kids with the condition and encouraging them to harness the greatest tool against the genetic disease – a positive attitude. Jono kicked off the National Organization for Rare Disorders (NORD
) Breakthrough Summit October 21 by sharing his story.
People with Treacher Collins syndrome
do not have certain facial bones, and about half have hearing loss. Only 1 in 50,000 people in the US has it, and about 1 in 10,000 in the UK, Jono's home. Most cases are autosomal dominant and due to mutations in the TCOF1 gene
But this post isn’t about DNA. It's about an incredible young man who is smart, funny, and caring, and quite beautiful. Here in Jono’s own words, from the NORD conference:
“I was born with a genetic condition that affects my facial features. I have no cheekbones, and so my eyes dip down. I love my little ears, they don’t get cold at night. But I do need hearing aids.
I’m one of the lucky ones. More severely affected individuals need help with feeding and breathing. I met some kids who’ve had more than 70 surgeries to correct problems that would make their lives easier.
My birth parents had no idea. When I was born, they were in total shock. I was out of the hospital 36 hours after I was born. Social services found someone to look after me. The foster carer was a lady called Jean. She was very short, and all her kids were grown, and she had so much love to give. Social Services told Jean there was a child in hospital whose parents were horrified, and there was no maternal bond. Jean said, “How could you not love a child?” She took one look at me and said, “Hell yeah, let’s make this happen!” (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…)
An annotated table of topics and textbook chapter #s for my DNA Science blog posts at Public Library of Science.
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 10th edition.
DNA reflects who we are -- but it isn’t the whole story.
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