300th Post at DNA Science Today
This is my 300th blog post for DNA Science. I’m so grateful to Public Library of Science for enabling me to comment so freely on all matters of genetics and genomics.
This week I look back on the crazy diversity of topics over the past year or so, and end with the posts that garnered the most attention, both good and bad. Two posts actually led to death threats.
I took over at DNA Science in September 2012, soon after my book The Forever Fix: Gene Therapy and the Boy Who Saved It, was published. Luxturna, the blindness gene therapy that the book was about, received FDA approval at the end of 2017. And so the tag cloud focuses on gene therapy and diseases.
Biotechnologies Boom: Gene Therapy, Silencing, Editing Soar
My favorite gene therapy post was “Celebrating the Moms of Gene Therapy,” for mother’s day last year. The individual stories are too many to cover: Kristin Smedley’s efforts to fight the retinal dystrophy (CRB1) that affects her sons; Laura King Edwards’ running blind to raise awareness of her little sister’s Batten disease; the Duff family’s effort against a rare form of Charcot-Marie-Tooth disease, CMT4J, for their little girl Talia and others, now inching closer to a clinical trial; Hannah Sames’ journey before and after gene therapy for giant axonal neuropathy; Eliza O’Neil’s gene therapy for Sanfilippo syndrome type A. The list goes on. Gene therapy for myotubular myopathy; for Crigler Najjar Syndrome; for the fragile butterfly children with epidermolysis bullosa.
The focus of DNA Science has broadened as have the therapeutic approaches to treating genetic disease, yielding a smorgasbord of ways to augment, alter, or silence genes.
“Two New Ways to Treat a Deadly Disease: Spinal Muscular Atrophy,” covers gene therapy as well as antisense oligonucleotides (patches of DNA-like bases that turn on a normally-silenced second copy of the implicated gene) to treat the neuromuscular disease. Enzyme substitution therapy is working for PKU, a failed cancer drug for the rapid-aging disorder progeria, and organs-on-a-chip to test drugs for ALS.
And then there’s CRISPR, the new DNA darling. “Is CRISPR Gene Editing Doomed Even as Gene Therapy Enters the Clinic?” reminds that gene therapy has been in development for several decades. CRISPR is still mostly deployed in cells outside bodies, but DNA Science has asked “Can CRISPR Conquer Huntington’s?” as well as sickle cell disease and Prader-Willi syndrome.
Gene therapy and editing are even being investigated to provide pet contraception.
People Yelling At Me
Bizarrely, I can’t link to the post that received by far the most hits – I had to take it down just 20 minutes after it went up because of a barrage of increasingly credible death threats through tweets, texts, even calls.
I had proposed a sci-fi scenario in which the population of the US splits into subspecies, divided by reproductive choices and a segregating of intelligence genes. The problem was the date: Thursday, November 10, 2016. I made a cogent, if offensive, argument using concepts from population genetics. Following the death threats and someone who responded too quickly to have even gotten to the biology part calling me a f_ _ _ _ _ _ moron, I pulled the post.
But it wasn’t the first time I’d been threatened, and the other is actually more interesting because it was so unexpected.
A few years earlier, I received threats by phone from a distinguished bioethicist! His issue was a 2-parter on the Havasupai Indians, here and here. A researcher had been accused and dragged through the proverbial mud following accusations of exploiting the people for research on schizophrenia. I’d unearthed evidence that this just wasn’t so, countering a report in Science. And I wrote about it. When I covered the bioethicist’s research for Medscape some months later, he had no idea who I was.
Most Controversial
The most-read post following my failed attempt at dystopian fiction (which no longer feels quite like fiction, I did save it) was “When Does a Human Life Begin? 17 Timepoints.”
I wrote it, in 2013, to flesh out the arguments that people often make about a woman’s reproductive rights, having noted that knowledge of prenatal development is often lacking. And I added to the 17 timepoints puberty, which is what matters in a Darwinian sense, and getting accepted into medical school.
The readers who’ve commented on 17 timepoints tend not to be happy with my choice – when a fetus has a chance of surviving outside the uterus – and are usually reasoned and respectful. But not always. Laying out the biological arguments gets people thinking.
I still cover matters of culture, politics, and the news when DNA is part of the story.
Topics have included DNA privacy, anti semitism, “Y Chromosomes in the News and #MeToo,” “How the Media Oversimplifies DNA Testing of Separated Families,” “The Biology Behind the Fertility Clinic Meltdown,” Neanderthals and Denisovans having sex in their cave, and the release of gene therapy guru French Anderson from prison. That last one got me yelled at again.
The Most Helpful
I see a three-way tie for most helpful post. In no particular order, they are:
#1 “20 Gene Variants and Transgender Identity: What Does It Mean?”, which covered a study by Graham Theisen, from the Medical College of Georgia at Augusta University. He identified 20 gene variants associated with transgender identity.
A reporter emailed me for a comment on a talk Dr. Theisen had given, which I gave a thumbs-up. Then I was astonished to find myself quoted in various UK newspapers in articles worded in ways that implied I was conducting the research! But just my blog post on it led to some wonderful correspondence from readers, some of whom I referred to Dr. Theisen. My conclusion: identifying as transgender is neither a mental illness nor a lifestyle choice – transgender identity “is a variation on the theme of being human, as we all are in one way or another.”
I’ve written a dozen editions of a human genetics textbook, and over the years, instructors had requested that I remove discussion of transgender identity because there was no genetic evidence for it. I’m currently writing the thirteenth edition, and it’s back in!
#2 My recent experience with breast cancer inspired articles that I repost regularly on several closed Facebook groups, to help the newly-diagnosed make sense of the bombardment of clinical information and choices. I repost “Don’t Tell Me My DCIS Isn’t Cancer!” weekly. The “C” in DCIS stands for “carcinoma.” Yes. It. Is.
#3 My Cat Has AIDS , judging from responses, has gone a long way in convincing people that cats who have FIV can be like any other felines – they may not live a full lifetime and may develop gum problems and need antibiotic shots for help overcoming infections, but they’re fine! We adopted Milton just two weeks ago. Our FIV population is now four.
Animal Stories
When politics becomes too much to handle, I turn to animal stories. In 2018 I covered the genetics of gorillas; Galapagos tortoise George; National Sea Slug Day; giraffe spot patterns; fertility issues among white rhinos; quaggas; jackass genomics; and “Tilapia: Freak Farmed Fish or Evolutionary Rock Star?”
With gene therapies finally reaching the clinic and CRISPR inching towards it, the focus of DNA Science may shift towards my new obsession, genetic genealogy. I’ve started with how to interpret the metrics and the new experience affecting thousands, surprise donor-conceived siblings.
Please send me ideas for posts and thanks for reading DNA Science!