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.
September 22, 2016
The Blue People ©Walt Spitzmiller
Most stories about the blue people of Kentucky include an eerie, compelling drawing of a family, with the stark faces of 5 of the 9 members a striking bluish-gray, due to an inherited disease. Most stories also borrow heavily from a terrific article by Cathy Frost from Science 82, a long-gone magazine that I quite liked. Frost’s piece, “The Blue People of Troublesome Creek,”
is usually credited, but the painting not, or misattributed to
, various newspapers, or simply deemed “unknown.”
The artist Walt Spitzmiller in fact painted the portrait of the Fugate family (see Walt Spitzmiller Fine Art
). A Science 82
editor asked him in 1982 to draw a family, who lived in rural Kentucky, in which the father and some of the children had blue skin. “That’s all I knew about it. I did research on the period they talked about and took old photos and put them together. I added the hunting dog in the lower right, the rooster, that type of thing to add authenticity,” Walt told me.
A BRIEF HISTORY OF THE FUGATES
The blue people of Troublesome Creek had methemoglobinemia
, a metabolic condition affecting hemoglobin, the four-part protein that carries oxygen bound to an iron atom at each subunit’s core. (more…)
September 14, 2016
Years ago, when I was teaching at a state university, I had the privilege to show real human embryos and fetuses to my genetics classes. An obstetrician back in the 1950s had saved them after patients had miscarried, with permission I was told, and donated the collection to the biology department.
My students were astonished at the forms that floated in size order in their test tubes and flasks, culminating in an 8-month fetus in a mayonnaise jar. I handled them with great care and respect. (more…)
August 31, 2016
The brown area in the lower left of this eye is a melanoma.
Melanoma of the eye presents a case study in the value of diagnosing by phenotype (symptoms and physical presentation) versus by risk genotype – a discussion that may impact ongoing efforts to sequence gazillions of human genomes. One recent estimate predicts two billion done by 2025
The big question: How much genome data will be clinically useful? (more…)
August 18, 2016
Eliza O'Neill received gene therapy -- a drip into her hand -- in May.
Here’s an update on some of the rare disease families I’ve blogged about as they travel the long and winding road from diagnosis to gene therapy.
The rarity of many single-gene diseases complicates design of clinical trials for any type of treatment. How can researchers recruit a control group, when only a handful of patients have the disease? Many of these conditions affect very young children. (more…)
August 18, 2016
Deafness was normal on Martha's Vineyard in the 1800s
One recent morning, my husband and I hiked down to Great Rock Bight, our favorite spot on Martha’s Vineyard, before anyone else. When I first saw it years ago, I named it the Planet of the Apes beach after the huge rock that juts up a few hundred yards from shore, like Charlton Heston’s view of the remnants of the statue of liberty at the end of that film.
I had with me a sci-fi tome, "Seven Eves"
by Neal Stephenson, and a glossy real estate magazine. Because our house is at the lower end of the price range, I like to ogle the spreads of zillion-dollar estates.
So I opened the magazine to "Historic Waterfront Chilmark Home," with a current image of a spectacular house on the left, and a view from 1901 on the right, behind owners Benjamin and Hattie Mayhew. The house was built in 1878 on 6 acres overlooking two big ponds. A mere $5 million.
Benjamin Mayhew was a descendant of Thomas Mayhew Sr, who "bought" the island in 1641, although the Wampanoag tribe
of Gay Head and their ancestors had lived there for more than 10,000 years. Benjamin and his brother Jared were deaf, as were both of their parents, an uncle and two aunts, and many others.
I’d forgotten the wonderful story of the deaf community of Martha’s Vineyard, so thought I’d share it here. (more…)
August 6, 2016
Speedy the tortoise
Last week my sister sent me a great article from Buzzfeed on “a reptile dysfunction”
. It’s about stupid people who buy cute little baby tortoises that, after a few sweet months, enter a growth spurt and rapidly begin toassume the dimensions of a dinosaur.
I did that.
An African Tortoise in Upstate New York
I got Speedy, an African spurred tortoise of species Centrochelys sulcata
(they have their own closed Facebook group
) at a reptile show when she was the size of an oreo. I should have realized that the fact that her natural habitat south of the Sahara was not exactly like that of the northeast US might be a limitation. But it was spring, and Speedy happily munched the lawn for months.
She grew. Fast
July 25, 2016
Hannah Sames and the researcher who created her gene therapy, Dr. Steven Gray.
Last week, 8 years and $8 million fund-raised dollars after the Sames family of Rexford, NY, began their battle against giant axonal neuropathy (GAN), their daughter Hannah finally received gene therapy.
JUST IN TIME
About 120 trillion viruses were injected into the fluid surrounding 12-year-old Hannah’s spinal cord, at the NIH Clinical Center. Each virus carries a working copy of the gene that encodes a protein called gigaxonin. When she awoke, the first thing Hannah said was "I'm hungry!" and soon after posted on Facebook, "I have an amazing family!" Indeed she does.
Although Hannah is the fifth child in the clinical trial
, she’s the first whose body doesn’t make the protein at all, thanks to two deletion mutations. She required a separate protocol to suppress her immune system so that it would accept the treatment, which uses the harmless adeno-associated virus to deliver the genes. At one point, it seemed that the clinical trial wouldn't include her, despite the funding from Hannah's Hope Fund. (more…)
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…)
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
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