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 9, 2016
The 2-hit hypothesis of cancer was based on retinoblastoma, the first example of a tumor suppressor mutation.
A report and a case published in two major medical journals this week suggest that relatives of certain people with cancer may be at higher risk, due to inherited (germline) mutations in DNA repair genes.
Only 5 to 10 percent of cancers are inherited
. Such individuals inherit a cancer-predisposing mutation in all their cells, and then a somatic (body) cell undergoes a second mutation that initiates the disease. The second mutation may be spontaneous or in response to an environmental factor such as smoking.
The one-two punch of inherited cancers, called the 2-hit hypothesis, was first described in 1971. (more…)
June 29, 2016
Inappropriate blood clotting can be a killer. Each year in the US, 300,000 to 900,000 people suffer a venous thromboembolism (VTE), which includes deep vein thrombosis (DVT) and pulmonary embolism (PE). African Americans have a 30–60% higher incidence of either or both than people of European ancestry.
The risk factors that come up on the usual health websites
for VTE tend to be the environmental ones that apply to everyone. But mention of genetic factors tend to be those found primarily among people of European ancestry – even though African Americans are at higher risk. (more…)
June 29, 2016
I’ve been bombarded lately with news releases reporting links between behavior and DNA.
In simpler times, genes encoded proteins, and the actions or absence of those proteins caused the trait or disease. But today, investigations from outside genetics – reported in psychology and politics journals, for example – are assigning genetic explanations to everything from liberalism to feelings about the death penalty to whether the sound of someone chewing
Strange things can happen when non-geneticists publish genetics papers. So I thought I’d mention a few intriguing reports and propose a behavior to investigate: nose-picking. (more…)
June 7, 2016
“Genotyping isn’t standard of care, so we don’t do it,”
said the surgeon dismissively to me a week ago, as if I’d asked him to bleed my husband or feel his head bumps.
Since the surgeon had just removed a foot of Larry’s colon, I stifled the urge to shout Gleevec! Avastin! Herceptin!
I’d asked about testing the cancer cells for variants of well-studied oncogenes and tumor suppressor genes. The mutational state of tumor cells at the time of removal, especially given the rarity of the cancer’s origin – the appendix -- might prove informative should further treatment become necessary, even if that’s not for many years. (more…)
May 25, 2016
Cow embryos (credit: Maaike Catteeuw, Ghent University)
I’ve often wondered what happens between the time an egg is fertilized and the time the ball of cells that it becomes nestles into the uterine lining. It’s a period that we know very little about, a black box of developmental biology, because observing or doing anything to even the earliest human embryos is frowned upon.
Every time I write the following paragraph in new editions of my textbooks, I try to picture what can go wrong during those first cell divisions.
“The birth of a healthy baby is against the odds. Of every 100 eggs exposed to sperm, 84 are fertilized. Of these 84, 69 implant in the uterus, 42 survive one week or longer, 37 survive 6 weeks or longer, and only 31 are born alive. Of the fertilized ova that do not survive, about half have chromosomal abnormalities that cause problems too severe for development to proceed.” (more…)
May 25, 2016
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Keeping a little girl at home for 722 days may seem cruel, but for the O’Neill family, it was a demonstration of astonishing bravery and love.
Glenn and Cara O’Neill had isolated their daughter Eliza to protect her from viral infection – which could have disqualified her from receiving gene therapy for Sanfilippo syndrome type A (aka mucopolysaccharidosis Type IIIA or MPS IIIA). Last week, she became patient #1 in Abeona Therapeutics'
phase 1/2 clinical trial. (more…)
April 24, 2016
Ridiculous headline? It’s just about as ridiculous as the one that circulated the Internet last week, parroting a genetically-ignorant news release from UCLA
Here’s the headline, this one from Science Daily
: “Fructose alters hundreds of brain genes, which can lead to a wide range of diseases.”
Imagine that. I can bite into a peach and jumpstart genetic chaos. I can give myself diseases with a frappuccino. Would a jolt of the high-fructose-corn-syrup variety kill me?
The good news is that apparently a diet rich in omega-3 fatty acids can reverse the rampant brain damage wrought by the evil sugar. The bad news is that the study was performed on 24 rats, counting the controls. And, of course, the science isn’t at all what the news release says it is. (more…)
April 21, 2016
Sensory neurons derived from induced pluripotent stem cells from patients with "burning man syndrome"
The family from northern Pakistan is one of the strangest to appear in the scientific literature. At its center is a 10-year-old, a street performer who walked on hot coals and inserted daggers through his arms before astonished crowds – feeling absolutely no pain. He died at age 13 from jumping off of a roof, considering himself impervious to all injury.
I’ve included this story in my textbooks for so long that I recently began to wonder if I’d been perpetuating an urban legend. Then a study in this week’s Science Translational Medicine
led me back to the Pakistani boy. He was real. And it turns out that different mutations in the same gene can cause complete absence of pain, or attacks of pain so severe that sufferers compare the sensation to dipping one’s feet into hot lava. In these extremes lie clues to developing new painkillers. (more…)
April 20, 2016
CRISPR-Cas9 gene editing
has been around not even 4 years, and people are avidly discussing its promises and perils
. That’s great. But consider the historical backdrop.
April 1, the European Medicine Agency’s
(EMA) Committee for Medicinal Products recommended for marketing approval a second gene therapy. “Strimvelis” treats adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID) and was developed at the San Raffaele Telethon Institute for Gene Therapy in Milan
. Regulatory approval is expected within a few months.
I wonder how many people realize, especially those fearful of how gene editing might be misused, that the gene therapy that is nearing approval actually entered clinical trials 26 years ago? (more…)
April 20, 2016
Variants of the melanocortin-1-receptor (MC1R
) gene impart the red hair, fair skin, and freckles of a Prince Harry or Wilma Flintstone – and also poorer protection against ultraviolet (UV) radiation and therefore higher risk of developing skin cancers, including melanoma. But a new study published in JAMA Dermatology
reveals that MC1R
genotype alone more than doubles the risk of melanoma.
The Ginger Gene
Many colorful creatures owe their distinctive phenotypes to MC1R
variants, from red pandas and ruffed lemurs, to Golden retrievers and brown cavefish
and Kuzakh fat-rumped sheep. Orangutans are an exception – their hue arises from a different gene. (more…)
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.
DNA Science blog posts at Public Library of Science
My weekly blog posts at DNA Science cover breaking genomics news, often as personal stories, historical perspective, or looking ahead.
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