New edition!!!


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.

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

Genetic Linkage

When a Bad Animal Model is Good: Cystic Fibrosis

January 29, 2016

Tags: cystic fibrosis, animal models, Kalydeco

(NHGRI)
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…)

Can a Quirky Chromosome Create a Second Human Species?

January 29, 2016

Tags: Robertsonian translocation

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…)

Hannah’s 2016: From Curling Toes to Gene Therapy

January 12, 2016

Tags: gene therapy, GAN, giant axonal neuropathy, Ricki Lewis, Lori Sames, rare disease

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…)

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…)

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, 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…)

Turkey Genetics 101

November 24, 2015

Tags: turkey genome, turkey genetics

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…)

Will Layla Save Gene Editing?

November 14, 2015

Tags: gene editing, CRISPR, TALENs

(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…)

Jono Lancaster Fights Treacher Collins Disease With Attitude

October 28, 2015

Tags: Treacher Collins Syndrome, rare diseases, NORD

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…)

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…)

Selected Works

blog posts
An annotated table of topics and textbook chapter #s for my DNA Science blog posts at Public Library of Science.
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
DNA reflects who we are -- but it isn’t the whole story.

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