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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

Summer Musings on the Deaf on Martha’s Vineyard and SevenEves

One morning last week, my husband and I hiked down to Great Rock Bight, our favorite beach on Martha’s Vineyard, before anyone else. When I first saw it years ago, I named it the Planet

Speedy the Tortoise and Altering the Genetic Code

Last week my sister sent me a great article from Buzzfeed on “a reptile dysfunction”. It’s about stupid people who buy cute little baby tortoises that, after a few sweet months, enter a growth spurt and rapidly

Genetics Gaffes Ruin Wayward Pines Finale

The FOX TV sci-fi dystopian series Wayward Pines had been unspooling a terrific second season, until a common genetics error halfway through the finale left me dumbstruck. The writers must have missed the day in tenth

Hannah Has Her Gene Therapy for GAN: When Science Becomes Medicine

Today, 8 years and $8 million fund-raised dollars after the Sames family of Rexford, NY, began their battle against giant axonal neuropathy (GAN), their daughter Hannah is finally receiving gene therapy. JUST IN TIME About

Playing the Woman Card in Cell and Gene Therapy

The juxtaposition of two emails in my inbox last Friday morning was startling. First came an announcement of an eBook series about “Women in Cell and Gene Therapy,” with the subhead “The Most Influential Women

Prostate and Colon Cancer News: The 2-Hit Hypothesis Revisited

A report and a case published in two major medical journals this week suggest that relatives of certain individuals with cancer may be at higher risk, due to inherited (germline) mutations in DNA repair genes.

African Ancestry and Dangerous Blood Clots

Inappropriate blood clotting can be a killer. Each year in the US, 300,000 to 900,000 people suffer a venous thromboembolism (VTE), which includes deep vein thrombosis (DVT) and pulmonary embolism (PE). African Americans have a

How much...Prelim data

I'm currently drafting up a fellowship proposal to hopefully cover the cost of my dumbass doing science for the next year or so. I'd like to think I have a compelling idea that fits within the programatic priorities of this funding group and I think they'd agree since I made it through the initial triage […]

The Genetics of Nose-Picking

I’ve been bombarded lately with news releases reporting links between behavior and DNA. In simpler times, genes encoded proteins, and the actions or absence of those proteins caused the trait or disease. But today, investigations

Better Mitochondrial Replacement: But Why?

The disconnect was striking between the headline of the news release a few days ago – “Improved method for mitochondrial replacement therapy” – and the title of the paper to which it refers – “Towards

My Husband’s Rare Cancer

“Genotyping isn’t standard of care, so we don’t do it,” said the surgeon dismissively to me a week ago, as if I’d asked him to bleed my husband or feel his head bumps. Since the

Cow Embryos Reveal New Type of Chromosome Chimera

I’ve often wondered what happens between the time an egg is fertilized and the time the ball of cells that it becomes nestles into the uterine lining. It’s a period that we know very little

Eliza Gets Her Gene Therapy

Keeping a little girl at home for 722 days may seem cruel, but for the O’Neill family, it was a demonstration of astonishing bravery and love. Glenn and Cara O’Neill had isolated their daughter Eliza

Gene Therapy for Type 1 Diabetes: Preclinical Promise

Despite eclectic ways of delivering insulin to control blood glucose level in people with type 1 diabetes (T1D), no approach precisely replicates what happens in the body. Gene therapy may hold the answer. T1D is

How Kevin Spacey is Altering Our Genes

Ridiculous headline? It’s just about as ridiculous as the one that circulated widely late last week: “Fructose alters hundreds of brain genes, which can lead to a wide range of diseases.” So proclaimed a news

No Pain and Extreme Pain From One Gene

The family from northern Pakistan is one of the strangest to appear in the scientific literature. At its center is a 10-year-old, a street performer who walked on hot coals and inserted daggers through his

Second Gene Therapy Nears Approval in Europe: Lessons for CRISPR?

CRISPR-Cas9 gene editing has been around not even 4 years, and people are avidly discussing its promises and perils (see “The Public and the Gene Editing Revolution” in today’s New England Journal of Medicine). That’s great. But

Redhead Gene Doubles Melanoma Risk, Without Sun

Variants of the melanocortin-1 receptor (MC1R) gene impart the red hair, fair skin, and freckles of a Prince Harry, Wilma Flintstone, or Donald Trump – and also poorer protection against ultraviolet (UV) radiation and therefore

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