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Genome Cloaking Preserves Privacy While Enabling Diagnosis

Sequencing genomes to diagnose puzzling symptoms presents a conundrum: how to interpret whether a person’s genotype causes the syndrome without comparison to many other human genome sequences? Put another way, a gene variant (mutation) that

Are Stem Cell Companies Abusing ClinicalTrials.gov?

I’m often asked about the safety of treatments that purport to inject stem cells into painful body parts. The reputation of stem cells seems to exceed the reach, with companies touting treatments that aren’t FDA

Charlie Gard Post-Mortem: Could He Have Been Saved?

Charlie Gard would have turned one year old tomorrow. The day before the British infant died of a mitochondrial disease on July 27, a short article in MIT Technology Review teased that Shoukhrat Mtalipov and his team

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...

Salvation: Sexual Stereotypes in Sappy Summer SciFi Series

I was so looking forward to the third season of Wayward Pines, which DNA Science covered in the summers of 2015 and 2016, but alas it was not to be. I’ll have to wait another year

Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete

A hypothetical heterosexual couple living in the US or UK takes tests to learn if they are carriers of the more prevalent recessive diseases. They’re relieved to find out that cystic fibrosis (CF) isn’t something

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

Post-Election Health Effects … Not Just Psychological?

Buried in the lower right corner of last week’s New England Journal of Medicine – not up on the left, which spawns the headlines – appears “Health Effects of Dramatic Societal Events – Ramifications of the

Wolf Evolution and “Settled Science”

Are the red and eastern wolves separate species, or hybrids with coyotes? And what has that got to do with climate change? Actually a lot, in illustrating what scientific inquiry is and what it isn’t.

Repost: Celebrating Brian Druker (ASCO 2017) and Basic Research

In recognition of (PLOS ONE author and founding member of the journal’s Board of Directors) Dr. Brian J. Druker’s receipt of the ASCO 2017 Science of Oncology Award  “for his work developing imatinib for chronic myeloid

Spinach Genome Reveals a Living Fossil

Imagine being spinach. Sidelined in the produce section of a supermarket, bagged and bunched into a sad uniformity mere feet from the regal, multihued heirloom tomatoes; the purple, orange, and cream-colored cauliflowers; the myriad types

5 New Buzzwords Borrowed From Biology

I’ve just finished revising the latest edition of my human genetics textbook, and while checking the glossary, discovered several potential new buzzwords, a few particularly relevant in these strange times. THE OLD Co-opting terms f...

Paying it back

This week I've been working a major outreach event that seeks to give  underrepresented minority college students training and further opportunities in science. I was honestly apprehensive to take a week out of the lab right now when things are incredibly busy, but this has been good for both the soul and the mind. I've interacted […]

Will Short Term and Long Term Treatments for Single-Gene Diseases Survive?

Two weeks and several political disasters ago, the House of Representatives passed the American Health Care Act of 2017, and soon lists of “pre-existing conditions” festooned news feeds. We all ticked off a few. But

An American Horror Story: The AHCA and Anencephaly

Last week I read with incredulity section 215 of the American Health Care Act, the part that states that it “does not include coverage for abortions (other than any abortion necessary to save the life of

Did Christianity Speed Chicken Evolution?

Did a Christian dietary practice speed the evolution of the domestic chicken about 1100 years ago? A new report in Molecular Biology and Evolution suggests this may be so. The researchers, from the UK and Germany,

Pulling the Plug on the First Gene Therapy Drug

2017 is supposed to be the year that FDA finally approves a gene therapy. But last week, the company behind the first approved gene therapy in Europe, uniQure.com, announced that it won’t “pursue the renewal

Dueling BRCA Databases: What About the Patient?

The news release Monday morning grabbed my attention: “Study finds wide gap in quality of BRCA1/2 variant classification between Myriad Genetics and a common public database.” Myriad Genetics had been exclusively providing tests, for $3000+ a pop

After Gene Therapy: Hannah’s Journey Continues

Thirteen-year-old Hannah Sames looked beautiful two weeks ago at the annual Hannah’s Hope Fund gala near her hometown and mine. She’d put on 15 pounds since her gene therapy for giant axonal neuropathy (GAN) 9 months ago. Hannah

Octopuses, Squid, and Cuttlefish: RNA Editing Instead of Genome Evolution?

It isn’t surprising that the intelligent alien life forms that communicate with Amy Adams’ linguistics professor character Louise Banks in last year’s film Arrival resemble octopuses minus an arm. Octopuses and their close cousins the squid

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