The Forever Fix: Gene Therapy and the Boy Who Saved It (324.0KB)
flyer / handout
December 2, 2016
21st Century Cures Act winds its way through the lame duck Congress, I’m reminded of a spellbinding dinner on Sunday night, October 16. It was the eve of the annual "breakthrough summit" for the National Organization for Rare Disorders, and I’d introduced a group of new friends to share their stories of life with a child who has had, or will have, gene therapy. (more…)As the revamped
November 13, 2016
On Thursday, November 10, I briefly posted a blog called “Donald Trump and the New Morlock Nation” on my usual website (not this one). I took the post down after threatening comments were posted and the tone was escalating.
I regret having given up my first amendment rights to bullies. I would rather have had a conversation. The commenters did not understand my point – that our differences taken to extremes and under some pretty unlikely circumstances (plus a very long time) could theoretically lead to a speciation event.
The post dealt with the contribution of heredity to intelligence. I used many disclaimers and never used a judgmental term such as “subspecies,” although I was accused of having done so.
My scenario based on theoretical population genetics had appropriate links to back up my hypothesis – for that is all it was. I meant no harm.
If anyone wishes to contact me through this website, I can send a word document by email, with or without links, of the post. This offer is to promote education.
November 6, 2016
short-legged hounds. But genetic variants that cause disease – in people and pets – can be not only devastating, but isolating when no one has heard of them. That's particularly so for children.We treasure rare genetic variants in our pets – from multi-toed cats to white rabbits to
Deborah Katz, a professor of nursing as well as a medical writer and editor and an artist, decided to do something to help children dealing with rare genetic diseases. She’s written a marvelous book, “Rare is Everywhere,” that taps into genetic quirks in beloved animals. A kickstarter campaign to fund the first print run is underway now, ending November 22. All proceeds will go to the Rare Disease Foundation a non-profit that funds research and programs for children with rare diseases.
Ms. Katz explains how she got the idea to write “Rare is Everywhere”:
“I’ve met so many kids in the last two decades-- personally and professionally - who feel like they are the only ones that are different. Even though I would tell them “you aren't the only one, there are so many others like you, and your difference can be a strength,” I felt like just saying it didn't really have an impact.
I've always had a passion for children's literature and its power to shape and inspire, and had written numerous stories for my own children over the years that I would tell to them at bedtime. So I started thinking about writing a children's book that showed kids that differences are common. One day, one of my children asked me what it means if something is rare. In trying to answer in a meaningful, scientific sort of way, I started to explain what a gene is and how we differ from one another in a way that my child could grasp.
I then had a Eureka! moment-- I could write a book that explains what rare is by showcasing animals with genetic changes that distinguish them from other members of their species, and that also shows kids how common differences are when you take a birds-eye view of the entire animal kingdom.”
Sometimes it is better to be different. The book points out when rare variants are actually beneficial. The white spirit bear is superior at catching fish, the black penguin mother stands out to her babies, while the black jaguar fades into the backdrop of a dark forest floor. My favorite is the white alligator:
I put twigs on my head and leaves by the bunch
When birds land on me, I eat them for lunch!
Ms. Katz avoids negative terms like “mutant” and “abnormal,” but doesn’t deny that being visibly different is to stand out – such as the brown panda, blue lobster, and pink grasshopper. “Children learn that differences are everywhere - and something to celebrate!”
Please support RARE IS EVERYWHERE by purchasing a book or making any donation. Thank you!
A version of this post appeared 10/31/16 at Rare Disease Reports
November 2, 2016
October 19, 2016
Darwin and Lamarck pondered the advantages of the giraffe’s long legs and neck, while a few decades later Rudyard Kipling explained how the leopard got its spots. Today genome sequencing is fleshing out what we thought we knew about some distinctive animal adaptations, from the giraffe to the leopard.
Adaptations are inherited traits that increase the likelihood of an individual surviving to reproduce. A zebra's stripes rendering it invisible when it runs and the fennec fox's giant ears that dissipate heat and hear distant predators are adaptations.
A report in this month’s Genome Research provides the basis for a “just-so story” about how the pangolin – aka the scaly anteater -- got its scales. They protect, but in a way beyond the obvious. According to the genome, the armor of the pangolin replaced part of its immune response.
September 29, 2016
The feat, accomplished by John Zhang, MD, PhD, medical director and founder of New Hope Fertility in New York City, but done in Mexico, will be presented at an upcoming conference and is abstracted in a medical journal (Fertility + Sterility), but hit the headlines first in New Scientist on Tuesday. An odd choice for an announcement, but the excellent article shows some restraint in using the term “3-parent technique”. Still, it unleashed a fresh barrage of “3-parent” and “designer” baby maddening memes.
The last time “3-parent baby” hit the media, I wrote "Mitohype: 3-Parent Designer Babies Who Will Change Human Evolution". I began that post, “If I turned in a 20,337 word article and the editor decided to replace 37 of those words, would I call her a co-author? Certainly not”.
In a nutshell, 37 genes do not a parent make. I say that as a parent, not a geneticist. (more…)
September 22, 2016
“The Blue People of Troublesome Creek,” is usually credited, but the painting not, or misattributed toMost 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,
ABC News, 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
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
August 18, 2016
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…)