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Luxturna: A Giant Step Forward for Blindness Gene Therapy – A Conversation with Dr. Kathy High

Three years ago, at a fundraiser near Philadelphia for the Curing Retinal Blindness Foundation, I stood, dumbstruck, as young teen Christian Guardino took the stage and belted out Don’t Stop Believing. Christian had recently undergo...

Can CRISPR Conquer Huntington’s?

I set a high bar for writing about mouse studies. I don’t include them in my textbooks or news articles, and only rarely blog about them. But when experiments in mice shine a glimmer of

Pig People?

When Medscape asked me late last week to cover the making of early embryos that have cells from pigs and humans, I couldn’t help but flash back to the pigman episode of Seinfeld. “The government’s been experimenting with

12 Alternative Facts of Human Genetics

I’ve always wanted to write about my favorite experiment in human genetics, but a news hook was elusive. Not any more! Thank you Kellyanne Conway for your intriguing concept of “alternative facts.” I’m writing the 12th

Genetics in 2016: Breakthrough, Breakdown, and Bridge

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

Linking Gaucher and Parkinson’s Diseases

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

Parent Roundtable: Before and After Gene Therapy

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

3 Gene Therapy Trials Report Good News

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

The Genetics of Nose-Picking

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

Eliza Gets Her Gene Therapy

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

Save my bacon...

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

Bringing Genomics to High School Students: A Survival Guide

(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

Help Young, Blind Musician Meet Bruce Springsteen!

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

Rerun: Dan Brown’s “Inferno”: Good Plot, Bad Science

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

“Saving Eliza” Campaign Helps Another Child

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.

When Celebrities Suddenly Care About Rare Diseases

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.

“Genes in Space” Student Winners Announced

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.

2014: A bleak year for science?

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 […]

Is that white supremacist part black?

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 four million odyssey of the horse

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 [...]

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