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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

CF Rx: Exercise

We can’t change our genes – yet – but we can alter our environments to ease life with an inherited illness. Meet two young people whose love of dance, running, yoga, and more is helping

When a Bad Animal Model is Good: Cystic Fibrosis

A “good” animal model is one that has the same symptoms of a disease that we do, right? Not always. Sometimes we can actually learn more when an animal is not a perfect model; their

Can a Quirky Chromosome Create a Second Human Species?

In this age of genome sequencing, we can lose sight of the importance of how our genomes are distributed over 23 pairs of chromosomes. Rearrangements of the pairs are invisible to sequencing if the correct

Aim assist

I'm trying to begin preparing for a fellowship proposal on a project that I am really excited by right now. I'm trying to jot out some aims for the project but I am hitting a brick wall whenever I start to put type them out. Does this ever happen to you folks? I am really […]

Why Count Stools in the Human Microbiome?

Last week, a not-yet-accepted-for-publication paper challenged the long-held view that bacterial cells outnumber human cells in a body 10 to 1. As “rewriting the textbooks” fueled media attention, I took a look, because I actually

What are you listening to...podcasts

So I'm trying to broaden my podcast horizons and wanted to know what everyone else is listening to. My list of what I listen to while I do some of the more mundane tasks in the lab are: -Tony Kornheiser Show (long time loyal little) -Tim Ferriss Show -Monday Morning Podcast w/ Bill Burr -Dan […]

Hannah’s 2016: From Curling Toes to Gene Therapy

Eleven-year-old Hannah Sames can still curl her toes, just barely. But time is running out. If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical

Advertising for Undergrads...

So I got saddled with a presentation to some local undergrads about our work that we do in the lab in hopes of inspiring these young and bright minds to come do a senior thesis in the lab. I've got ~20 minutes and I'm wondering how to organize the presentation. I'm thinking of either talking on […]

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

Precision Medicine Initiative – Ricki’s Pick for Breakthrough of the Year

‘Tis the season for Science magazine to name their Breakthrough of the Year, a designation that typically irks me because it implies that science happens suddenly and we all know that of course it doesn’t.

Genes That Protect Against Dementia (Maybe)

“Survival of the fittest” is one of the most misunderstood terms in biology. Evoking images of physical prowess, it actually refers to an individual inheriting traits that increase the chances of having fertile offspring, such

A Conversation with CRISPR-Cas9 Inventors Charpentier and Doudna

At the American Society of Human Genetics meeting in October, CRISPR-Cas9 inventors Jennifer Doudna and Emmanuelle Charpentier accepted the Gruber Genetics Prize, then stopped by the press room. For me, this was a little like sittin...

Turkey Genetics 101

I love watching the turkeys on Martha’s Vineyard. They travel in small family groups of two parents with chicks and adolescents, coalescing into larger tribes. When it rains, wild turkeys go about their business, pecking

Will Layla Save Gene Editing?

I had planned to blast last Thursday’s news of the use of gene-editing to save a British baby from aggressive leukemia. “Two months later, Layla was cancer-free,” proclaimed one of many enthusiastic reports. I’m always

Jono Lancaster Fights Treacher Collins Syndrome With Attitude

When Jono Lancaster was born 30 years ago, his parents took one look at his face, and abandoned him. Today Jono, who has Treacher Collins syndrome, travels the world meeting kids with the condition and encouraging them

Sequencing the Genomes of Dead People

Last Wednesday, at “Career Night” during the American Society of Human Genetics annual conference in Baltimore, I was stationed one table over from Robert Steiner, MD, from the Marshfield Clinic Research Foundation in Wisconsin. With The post Sequencing the Genomes of Dead People appeared first on DNA Science Blog.

Understudy Gene Offers Hope for Spinal Muscular Atrophy

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

Precision Medicine: Much More Than Just Genetics

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

Tess’s Tale: Social Media Catalyzes Rare Disease Diagnosis

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

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