I began writing about genetics decades ago, and the best thing about getting older is witnessing the development of targeted treatments for single-gene diseases that I never thought would happen. But it is happening, for cystic fibrosis,...Show More Summary
When President Obama uttered the words “Precision Medicine” in the state-of-the-union address, I scoffed at a politician’s finally noticing a field that’s been around for decades: medical genetics. Was it another case of rebranding,Show More Summary
Attention to the plight of families with rare diseases continues to grow this week, and provides a backdrop to another compelling tale of a family seeking a diagnosis for mysterious symptoms. THE UNDIAGNOSED DISEASES NETWORK The National...Show More Summary
I'm working on making figures for a paper that I walked into and have done some work to wrap up the study. I'm currently going batty digging through old files to find the raw files that were used to create graphs that apparently only exist in powerpoint files. These things are spread out to the four corners […]
Is anyone using an ELN system for their lab. I've been looking at a few, Evernote in particular, to help me keep my multiple projects organized? Didn't know if you found a helpful system or what difficulties you had in implementing this?
Because I write nonfiction, I love to read fiction. But I avoid crime novels, especially about serial killers who carry out gruesome rituals on innocent young women. When a book publicist sent me info about a new book, “The Ripper … Continue reading » The post The Ripper Gene: A Book Review appeared first on DNA Science Blog.
Targeted treatments for cancer have been extending and saving lives for more than 15 years — precision medicine isn’t a new idea in oncology. Now drugs pioneered on select, specific cancers are, one by one, finding new applications. The first … Continue reading » The post Targeting Cancer: A Basketful of Hope appeared first on DNA Science Blog.
Ten years ago this month, I attended the Catalyst Workshop at the American Film Institute. The week-long program taught screenwriting to a dozen scientists, with the hope that we’d somehow help Hollywood get the science right. But what we learned … Continue reading » The post Another Evil TV Geneticist on Netflix’s “Between” appeared first on DNA Science Blog.
Last week, several people sent me a perspective piece by bioethicist Art Caplan in PLOS Biology, “Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing.” The concise and compelling article considers...Show More Summary
A terrific article recently published in Molecular Biology and Evolution, “Alternative Splice in Alternative Lice,” provides a compelling example of maximizing genome information – adaptation of the louse Pediculus humanus to the new habitat created when our ancestors invented clothing. Show More Summary
Summer is half over, so I thought I’d update a few posts. EMAN IN LIBERIA A year ago, I frantically wrote about my young friend in Liberia, Emmanuel Gokpolu, and his pleas to help stop Ebola. Emmanuel and his loved ones … Continue reading » The post Midsummer Updates at DNA Science appeared first on DNA Science Blog.
Tonight is the final episode, ever, of Wayward Pines, the 10-episode FOX television show that’s the best sci-fi I’ve seen since the X-Files. The series, based on a trilogy by Blake Crouch, has a seemingly simple set-up. Random people, except … Continue reading » The post Is Wayward Pines Genetically Plausible? appeared first on DNA Science Blog.
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 think I might need that $8k to purchase a license for Ingenuity Pathway Analysis. Goddamn that stuff is not cheap.
It’s an unacknowledged law of nature that whatever the texture of a girl’s hair, she wants the opposite. For years I wrapped my tangles around soup cans and around my head, squished it under irons, and subjected it to stinky … Continue reading » The post Hannah’s Hair – Why Traits Matter appeared first on DNA Science Blog.
As my inbox fills with ever more updates on the number of human genomes sequenced and the plummeting time and cost of next next next generation sequencing, I find myself hitting delete more and more often. Instead, I’m drawn to … Continue reading » The post Aicardi Syndrome: Genome Sequencing Illuminates Another Rare Disease appeared first on DNA Science Blog.
For the summer I have been fortunate to be assigned (read: saddled) with a high school intern. It turns out this kid kicks ass and has been nothing less than a pleasure, making reevaluate my dim view of summer interns. My goal from day one was to make them fairly autonomous but giving them a […]
No one has the right answer! Everyone's proposals to fix the NIH funding situation boils down to give money to folks like "me" and fuck everyone else. So I have to agree with Odyssey's premise, maybe the current system is as good as we get. Maybe, the current system just cannot function properly when it […]
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.
So now that I'm ensconced in my new position as a postdoc, I felt it was time to talk about the post Ph.D. Transition. The last few months of my Ph.D. program felt like a wild ride. It also felt so far removed from the rest of my experiences in grad school. 1. Thesis Writing: I […]