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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 […]

Yuletide submission

I'm submitting a paper today, hopefully. So journal, Santa's coming early baby! Remember that dear editor, don't have ice water flowing through your veins and desk reject. Because Santa GR will remember and you'll get a lump of coal next year!   If you are celebrating the holidays, I hope you have a safe and […]

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

Clearing the backlog

I'm currently not able to spend a lot of time in lab (booo!) and stuck at my desk working on papers (yay!!!!). Papers good right? Yeah but too many manuscripts are coalescing at once. I'm staring at four drafts of papers from me (2 first authorships, 2 co-authorships) and I'm looking at my excel sheet […]

Yo-Yo Dieting: Blame Microbiome and Fewer Flavonoids

Today begins phase 1 of the holiday season, with eating, eating, and more eating. Then comes phase 2, on January 2. Hordes of the sedentary suddenly swarm exercise classes and take over the treadmills. Diets

Alani’s Life With Lipodystrophy

We tend to think of fat as the enemy when it bulges over our waistlines. But fats are essential to survival. We need cholesterol to make sex hormones, fatty acids to assemble into the membranes

Donald Trump and the New Morlock Nation

Disclaimer: Today’s post is my opinion only, not that of PLOS or any other scientists. I don’t mean to offend, but it’s my blog and I’ll vent if I want to, as long as it involves

Prenatal Genetic Testing of Pap Smears: Papoose?

Anthony Weiner and Woody Allen have the same favorite organ; mine is the placenta. The amazing placenta literally links generations, and if findings reported in the new Science Translational Medicine are validated, prenatal genetic screening and

Inferno Revisited and Genetic Illiteracy

Today as the film version of Dan Brown’s novel Inferno opens, starring Tom Hanks fresh off his Saturday Night Live performance, I’m revisiting my post from January 9, 2014. Here’s hoping a geneticist consulted on

Procaine Induces Epigenetic Changes in HCT116 Colon Cancer Cells

Colon cancer is the third most commonly diagnosed cancer in the world, and it is the major cause of morbidity and mortality throughout the world. The present study aimed at treating colon cancer cell line (HCT116) with different chemotherapeutic...Show More Summary

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