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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

A brief treatise on tyranny and xenophobia

I generally stay as apolitical as possible when it comes to my public and professional life. If asked in a private environment I do share my beliefs, but otherwise I keep it out of my job. I honestly wanted to give the new guy a fair shot, but any goodwill that I may have had […]

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

A Necessary Retelling of the Smallpox Vaccine Story

A curious confluence of events unfolded Tuesday night. Just hours before President Obama uttered the powerful “science and reason matter” in his farewell address, Robert F. Kennedy Jr. announced that the incoming president had tappe...

Gene Action Tracks an Autoimmune Disease: Systemic Sclerosis

Systemic sclerosis (Ssc) is a rare disease in which collagen gloms up internal organs and toughens the skin into an armor of sorts. It’s also called scleroderma, from the Greek for “hard” (skleros) and “skin”

December 24 on Hollis Ave

As I boil eggs to make deviled eggs and get ready to inject my turkey with Cajun seasoning, I'm jamming out to some of my favorite Christmas tunes. So if you are celebrating the holidays or just a regular Sunday tomorrow. Have a good one and I hope the spread is covered in the Denver […]

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