All Blogs / Academics / Biology / Genetics / New


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

How the Pangolin Got Its Scales – A Genetic Just-So Story

Everyone loves animal oddities. Darwin and Lamarck pondered the advantages of the giraffe’s long legs and neck, while a few decades later Rudyard Kipling explained how the leopard got its spots. Today genome sequencing is

Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities

We utilized fluorescence in situ hybridization (FISH) to screen for subtelomeric rearrangements in 82 Thai patients with unexplained intellectual disability (ID) and detected subtelomeric rearrangements in 5 patients. Here, we reported on a patient with der(20)t(X;20)(p22.3;q13.3) and a patient with der(3)t(X;3)(p22.3;p26.3). Show More Summary

3 Gene Editing Approaches for Sickle Cell Disease

Sickle cell disease (SCD) is a perfect candidate for gene editing. It is perhaps the best understood single-gene condition, due to a substitution of a single DNA base in the gene that encodes the beta

Why I Hate the Term “3-Parent Baby’”

A healthy baby boy has been born following mitochondrial manipulation technology (MMT). It was bound to happen, and might offer an alternative for some women who carry a mitochondrial disease. The feat, accomplished by John

Thank you DrugMonkey

I came to find out about DrugMonkey and his ubiquitously profane, sometimes incendiary, and always insightful partner in crime Comrade Physioprof nearly 8 years ago. I imagine these two running around the halls of meetings or study sections like Turk and JD from the TV show Scrubs. I'll focus in on DM and save my praise for […]

Finding The Famous Painting of the Blue People of Kentucky

Most stories about the blue people of Kentucky include an eerie, compelling drawing of a family, with the stark faces of 5 of the 9 members a striking bluish-gray, due to an inherited disease. Most

My Thyroid Cancer

My husband and I were intrigued to discover that this week’s New England Journal of Medicine has articles on both of our cancers! Larry is doing active surveillance for prostate cancer, the article that’s making

Genetic Choreography of the Developing Human Embryo

Years ago, when I was teaching at a state university, I had the privilege to show real human embryos and fetuses to my genetics classes. An obstetrician back in the 1950s had saved them after

Eye Melanoma, Media Hype, and Genomic Medicine

Melanoma of the eye presents a case study in the value of diagnosing by phenotype (symptoms and physical presentation) versus assessing risk genotype – a discussion that may impact ongoing efforts to sequence gazillions of

Assessment of Functional EST-SSR Markers (Sugarcane) in Cross-Species Transferability, Genetic Diversity among Poaceae Plants, and Bulk Segregation Analysis

Expressed sequence tags (ESTs) are important resource for gene discovery, gene expression and its regulation, molecular marker development, and comparative genomics. We procured 10000 ESTs and analyzed 267 EST-SSRs markers through computational approach. Show More Summary

A Mom’s Advice: 10 Tips About Kids in Clinical Trials

The morning after I posted last week’s “3 Gene Therapy Trials Report Good News,” I heard from my friend Ilyce Randell, whose son Max has had two gene therapies for Canavan Disease. Unlike the parents in

3 Gene Therapy Trials Report Good News

Here’s an update on some of the rare disease families DNA Science has covered as they travel the long and winding road from diagnosis to gene therapy. The Challenge The rarity of many single-gene diseases

Copyright © 2015 Regator, LLC