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.
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…)
September 25, 2015
When President Obama uttered the words “Precision Medicine” in the state-of-the-union address, I scoffed at a politician’s finally noticing a field that’s been around for decades: medical genetics. Was it another case of rebranding, as chemistry has morphed into nanotech? But the definition of Precision Medicine that has emerged is, well, precise: “An approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle.” (more…)
September 17, 2015
Attention to the plight of families with rare diseases continues to grow this week, providing a backdrop to another compelling tale of a family seeking a diagnosis for mysterious symptoms.
THE UNDIAGNOSED DISEASES NETWORK
The National Human Genome Research Institute’s Undiagnosed Diseases Network (UDN) just announced the UDN Gateway
. This online application portal will guide patients to a growing national network of clinical sites, including six new ones and two genome sequencing centers. The Gateway replaces paper-based application to specific clinical centers for the few coveted slots. (more…)
September 14, 2015
Basket studies allow researchers to evaluate considering a cancer's mutations in choosing treatment. (NHGRI)
Targeted treatments for cancer have been extending and saving lives for more than 15 years — precision medicine isn’t a new idea in oncology. Now drugs pioneered on select, specific cancers are, one by one, finding new applications.
The first wave of targeted drug approvals were for cancers associated with specific mutations. Herceptin (traztuzumab) led the way, approved in 1998. It’s a monoclonal antibody deployed against the HER2/neu receptor that is overabundant in some aggressive and early-onset breast cancers. Robert Bazell’s excellent book Her 2
tells the tale.
In 2001 came the blockbuster Gleevec (imatinib), a small molecule tyrosine kinase inhibitor that intercepts signals to divide. Erin Zammett’s My So-Called Normal Life with Cancer
relates that story. A very young editor at Glamour magazine when a routine check-up revealed chronic myelogenous leukemia, Erin’s recovery was one of the first of thousands thanks to this now famous drug. (more…)
August 13, 2015
Last week, several people sent me a perspective piece by bioethicist Art Caplan published in PLOS Biology
, "Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing." The concise and compelling article considers legislation to mandate that genetic counselors talk to their patients more about positive aspects of having a child with trisomy 21 Down syndrome. (more…)
August 6, 2015
A terrific article recently published in Molecular Biology and Evolution, “Alternative Splice in Alternative Lice,”
provides a compelling example of maximizing genome information – adaptation of the louse Pediculus humanus to the new habitat created when our ancestors invented clothing.
HEAD VS BODY LICE
Many parents encounter head lice
when their children are sent home from school with instructions to get rid of the horrible rice-krispie-like eggs (“nits”) clinging to their scalp hairs. A good washing won’t do it. Medication and clunky combs do very little alone. The sooner the poor parent realizes that meticulous nit-picking is the only solution, the sooner the nightmare ends.
But consider the louse’s point of view.
Lice live on us so that they can drink our blood, with a little help from bacteria that provide the B vitamins needed to extract maximal nutrients from their meals. Head lice lay their eggs on our hair shafts, gluing them in place. These are the much more common variety. They don’t carry disease, and are mostly an annoyance. (more…)
July 16, 2015
5-year-old Will Byers got a spot in a clinical trial for his Sanfilippo syndrome thanks to the efforts of another family.
Valerie Byers had long suspected that her son Will’s diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show
about a little girl named Eliza, in late February, she knew instantly that five-year-old Will had something far worse. (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
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