I dislike end-of-year “best of” lists, especially the “breakthroughs” that imply scientific discoveries and medical advances emerge from out of nowhere. Often they’re the product of PR machines that select and then catapult certain research
This month, JScreen’s “Spit Happens” campaign is covering all costs not met by insurance for testing for carrier status for Gaucher disease, thanks to funding from the National Gaucher Foundation. The “spit happens” video is an entertaining view
I dedicate this post – my 200th here at DNA Science – to the rare disease families I’ve met since starting this blog four years ago. You are all amazing! As the lame duck Congress
Here’s an update on some of the rare disease families DNA Science has covered as they travel the long and winding road from diagnosis to gene therapy. The Challenge The rarity of many single-gene diseases
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
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
Drugmonkey didn't tag me in his meme challenge but fucke it, why not? Here's my list of characters to get me out of a jam. 1&2. Damien Scott and Michael Stonebridge 3. Carrie Mathison 4. Mr. Rogers 5. Jack Bauer
(This week DNA Science has a guest post from Sergio Pistoi, a science writer and molecular biologist from Italy.) When I gave my first conference about genomics in a high school, I thought of what
Last March, my husband Larry and I attended the annual gala for the Curing Retinal Blindness Foundation, near Philadelphia. During the cocktail hour, someone was singing at the piano, “Born to Run.” I turned to
I’m thrilled that DNA Science made the top 15 PLOS blog posts of 2015, but a little surprised that the entry was for analysis of the genetic accuracy of the TV series Wayward Pines. Then
Valerie Byers had long suspected that her son Will’s diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show about a little girl named Eliza, in late February, she knew instantly that 5-year-old … Continue reading » The post “Saving Eliza” Campaign Helps Another Child appeared first on DNA Science Blog.
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 … Continue reading » The post When Celebrities Suddenly Care About Rare Diseases appeared first on DNA Science Blog.
I thought for sure some of us would be living on the moon, or beyond, by now. In the late 1960s, it was easy for a kid to believe that. For many families back then, a launch was a special … Continue reading » The post “Genes in Space” Student Winners Announced appeared first on DNA Science Blog.
What's the old saying, you neighbor loses his job and its a recession, but you lose your job, and its a depression. Well the shoe finally dropped for one of my friends and he was put on notice that his job disappears as of January 1st. Sadly for him there was no advance notice that […]
Many of you probably know about Dave Chappelle’s black white supremacist sketch (NSFW video!), though fewer are aware of Leo Felton, a white supremacist (ex, after he was outed) with a black father (a less tragic outcome than Dan Burros, the Jewish American Nazi). Show More Summary
The horse is a beautiful animal. That is not a trivial matter, but there is the added fact that historically it is has been of great consequence. Obviously the rise of horses as vehicles of war is preeminent in our minds, but on a more prosaic level draft horses revolutionized many societies via their effect [...]
after a self-imposed exile. So what's good?
Here is today’s zeitgeist, by which I mean the working assumptions made by top scientists, politicians, academics and journalists, as they do their jobs, every day: Free will is an illusion. The interests, passions, motivations, obsessions, fears and desires that...
After my previous post my wife started doing research online. The autosomal dominant condition that I have is almost certainly localized to one particular chromosome (there is a large effect QTL there that is strongly associated with my condition). Additionally, I inherit this condition from my mother. My daughter has her whole pedigree genotyped, thanks [...]
Now that I have a daughter I do reflect a bit more on what the purpose of my life is, because at some point I want to talk to her about the purpose of her life. There is a little bit of irony in this insofar as now she is a primary purpose of my [...]