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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

What’s in a Placenta? A Transcriptomic View

I didn’t think much about placentas until I had one and part of it dislodged halfway through a 4-mile run. Happily it ended well some months later with a “small for gestational age” tiny baby

A New View of Diabetes?

It’s hard to change entrenched ideas in science. Protein is the genetic material. Genes are continuous and immobile. The genome consists of 120,000 genes; no, 80,000; no, 60,000; no, 20,325. What we know about the

Blinded By Stem Cells

The small wavy shimmers and fuzzy areas in the 78-year-old’s eyes had grown slowly, leading to a diagnosis of age-related macular degeneration (AMD), which affects more than 10 million Americans. She had the more common

Saving GINA: Is Genetic Privacy Imperiled?

A bill that passed its first hurdle yesterday in Congress threatens to take away genetic privacy protections put in place with the Genetic Information Nondiscrimination Act (GINA) of 2008. H.R.1313, the “Preserving Employee Wellness Programs Act,” might

The Noncell Autonomous Requirement of Proboscipedia for Growth and Differentiation of the Distal Maxillary Palp during Metamorphosis of Drosophila melanogaster

The Drosophila maxillary palpus that develops during metamorphosis is composed of two elements: the proximal maxillary socket and distal maxillary palp. The HOX protein, Proboscipedia (PB), was required for development of the proximal maxillary socket and distal maxillary palp. Show More Summary

Is Transgender Identity Inherited?

The recent return of the “which bathroom?” issue regarding transgender individuals’ use of public restrooms has made me think about how I’ve handled sex and gender in my human genetics textbook. Over the editions, the two topics

Managing the backlog

Our lab is in the predicament that we have a glut of papers that need to go out in order to get as many accepted or in press before a grant deadline. I literally have a color-coded excel sheet open on my computer right now listing manuscripts, there various states of doneness (in preparation, review, […]

Rare Disease Day 2017: Talia’s Story

This year for Rare Disease Day – February 28th – DNA Science honors Cure CMT4J: Advancing Gene Therapy for Rare Diseases, run by Jocelyn and John Duff. Their daughter Talia’s “diagnostic odyssey” was unusually long

Defying Mendelian Genetics and “Embryo Engineering”

Mendel’s laws, like any laws in science, are wonderful because they make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25%

Does i-T744C P2Y12 Polymorphism Modulate Clopidogrel Response among Moroccan Acute Coronary Syndromes Patients?

Background. An interindividual variability in response to Clopidogrel has been widely described in patients with acute coronary syndromes (ACS). The contribution of genetics on modulating this response was widely discussed. The objective...Show More Summary

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

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