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.
July 1, 2015
As the number of sequenced human genomes climbs and the time to sequence a genome plummets, I find myself drawn more to the small stories, the incremental revelations that may affect only a few individuals.
A few weeks ago, a study published in Investigative Ophthalmology and Visual Science
caught my attention. Researchers at the Translational Genomics Research Institute (TGen
) in Phoenix used exome and genome sequencing to probe the origins of a condition I'd never heard of -- and the findings were surprising. (more…)
June 17, 2015
Sharon King, Laura King Edwards, and Taylor King -- and Hannah Montana
I have followed, in awe, the tireless efforts of families that have rare genetic diseases to raise awareness and funds.
Bake sales and bike races, balls and raffles, exhausting and all-consuming. But these efforts pale when a performer or other famous rich person suddenly and explosively steps up to support such a disease, solely because someone they know has just been diagnosed. As if dozens of families haven’t already been trying to fund clinical trials for years. Last summer’s "ice bucket challenge"
was the epitome of the power of viral social media, with the message about ALS lost in the excitement.
When celebrities suddenly care about rare diseases, I wonder what my friends in the rare disease community think. They’re happy, of course, at the attention, yet perhaps a bit unglued by the power of the famous – but maybe afraid to say so.
That happened recently for Batten disease, a devastating group of brain disorders that strike in childhood. One family isn’t afraid to speak out.
Two years ago my blog DNA Science
gave a voice to Laura King Edwards, who has been running races in all 50 states in honor of her 16-year-old sister Taylor, who has Batten disease. Laura updated a year ago
This year, she and her mother Sharon King share their thoughts about last week’s avalanche of concern for the disease that is taking Taylor away. (more…)
May 27, 2015
I didn’t cry until page 123 of Lisa Genova’s terrific new novel "Inside the O'Briens". That’s when 44-year-old Boston police officer Joe O’Brien calmly explains to his four young adult offspring that his “weird temper”; his frequent toe-tapping, shoulder-shifting, and eyebrow lifting; and his inability to sequence the events in a routine crime report, are all due to Huntington’s disease (HD).
As a boy, Joe believed the neighborhood talk that his institutionalized mother was an alcoholic. He remembers his skeletal, writhing, grimacing and grunting mother as a monster, not as someone suffering from a neurological disease only trying to say “I love you” to her terrified son. (more…)
May 4, 2015
I fear that news out today about gene therapy to treat a form of childhood blindness will be unnecessarily negative. Because I wrote a book about this treatment, “The Forever Fix: Gene Therapy and the Boy Who Saved It”
and am Facebook friends with many affected families, I want to add context to the news coverage. (more…)
March 26, 2015
Discovery of a new gene behind autism cleverly combines genetic techniques new and classic.
Autism has been difficult to characterize genetically. It is probably a common endpoint for many genotypes, and is a multifactorial (“complex”) trait. That is, hundreds of genes
contribute risk to different degrees, as do environmental factors. Research reports implicate either dozens of genes in genomewide sweeps, or focus on a few genes that encode proteins that act at synapses, such as the < href="https://www.autismspeaks.org/science/grants/neuroligins-and-neurexins-autism-candidate-genes-study-their-association-synaptic-con">neuroligins and neurexins. (more…)
March 15, 2015
Researchers from Johns Hopkins University have teamed two powerful technologies to correct sickle cell disease in a lab dish. Linzhao Cheng and colleagues have deployed CRISPR/Cas-9 on iPS cells to replace the mutant beta globin gene, published in Stem Cells
ACRONYMS AND ABBREVIATIONS
CRISPR conjures up images of fried chicken, but it stands for “clustered regularly interspaced short palindromic repeats” – short repeated DNA sequences interspersed with areas called spacers, like stutters. The pattern of repeats and spaces attracts an enzyme, Cas9, which is like a molecular scissors that cuts wherever short RNA molecules called “guide RNAs” take it. Here’s a fuller description
March 6, 2015
Cholesterol isn't the enemy -- triglycerides are.
Each morning at the retirement community, the healthy 88-year-old man received a delivery of 25 soft-boiled eggs, which he would consume during his day. This had been his way for many years. He’d had one experience of chest pain that might have been angina, but aside from that, he had a healthy cardiovascular system. He recognized that his only problem was psychological: “Eating these eggs ruins my life, but I can’t help it.”
I think of the Eggman, a brief case report from 1991 in the New England Journal of Medicine
, whenever "news" of cholesterol’s unsuitability as a one-size-fits-all biomarker resurfaces, as it does every few years and did again a few weeks ago
December 7, 2014
Many years ago, a friend was helping me set up a desktop computer. When the time came to choose a password, he said it should be:
• More than 7 numbers or letters
• Obvious to me, but not to anyone else
The genetic code popped into my mind, and has remained an endless source of diverse passwords, valuable because they may seem nonsensical to non-biologists. (more…)
November 19, 2014
Balanced polymorphism retains mutant genes in populations when they protect against other conditions.
While pharmaceutical companies focus on drug discovery for Ebola virus disease, a powerful clue is coming from a rare “Jewish genetic disease” that destroys the brain. People with Niemann-Pick C1 disease can’t get Ebola, adding to the list of disease pairs that arise from a fascinating form of natural selection.
Balanced polymorphism, aka heterozygote advantage, is a terrific illustration of ongoing evolution. And it pits the human body against all sorts of invaders – prions, viruses, bacteria, protozoa, and fungi. (more…)
November 19, 2014
Eman (arrow) at an Ebola awareness workshop a few weeks ago. He is in the hospital now, with a fever, but has tested negative for Ebola.
My last post continued Emmanuel Gokpolu’s reporting from Ebola ground zero in Liberia. Ebola interrupted Eman’s medical education, so now he is educating his people about strategies to minimize risk of infection.
Eman and I began a very special friendship when he first contacted me when using my human genetics textbook in college. Right now he is in a hospital with a fever, after finally convincing the staff to admit him. It might be a flare-up of his malaria, we don't yet know.
This post picks up in early October, when Ebola suddenly jumped from a topic rarely reported in the U.S. ,to major news when it arrived here. (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.
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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