Weekend Reads

This week’s talking points were how we’re all mosaics, the ‘Jolie Effect’ on breast cancer and that China is taking the lead in genetic testing. 


Why the Pharmaceutical Industry is Giving Up the Search for an Alzheimer’s Cure

Thanks to modern healthcare and improved living standards, life expectancy is predicted to surpass 80 years in most parts of the world by 2050. That’s the positive.

The negative is that will push the number of people in the world over the age of 60 to more than 2 billion, which in turn will make age-related health issues a tremendous global burden for which we’re deeply unprepared.

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There are three main reasons scientists have not successfully developed new Alzheimer’s drugs in the last decade and a half. (Credit: Pixabay)

There will be many knock-on effects on the world’s health-care and social welfare systems, but we’ve also made significant progress on many of the illnesses more likely to afflict the elderly, including cancer and heart disease. One we have not done much for also happens to be one of the most tragic forms of ageing gone awry: dementia, the umbrella term for the symptoms some older adults experience as they’re slowly robbed of their sense of self and cognitive abilities.

Katherine Ellen Foley, writing for Quartz, says there are three main reasons scientists have not successfully developed new Alzheimer’s drugs in the last decade and a half… Read full story →


The ‘Jolie Effect’ Was A Game-Changer For Breast Cancer, But It Was Just A Start

Five years ago this Monday, actress and humanitarian Angelina Jolie announced to the world in a New York Times op-ed that she is a BRCA1 gene mutation carrier, and that she underwent a preventative double mastectomy to help reduce her breast cancer risk. BRCA1 and BRCA2 are tumor-suppressing genes, and mutations of these genes elevate a person’s lifetime risk of developing breast cancer to 72 percent and 69 percent, respectively.

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The “Angelina” effect may have caused a spike in genetic tests for breast cancer, but not an increase in surgical interventions (Credit: G8UK)

Jolie’s essay played a critical role in increasing awareness of both BRCA mutations and genetic testing. Her announcement had such a significant impact, scientists observed what’s now referred to as the “Jolie effect” ― genetic testing for BRCA1 and BRCA2 mutations increased by 64 percent in the three-week period after Jolie’s essay ran in the Times. Six months later, genetic testing rates remained 37 percent higher than in the four months prior to the op-ed’s publication.

We’ve seen a few scientific breakthroughs in the past five years when it comes to treating cancers caused by BRCA mutations. However, significant challenges remain regarding access to genetic counseling and testing in the U.S., argues Erica Stallings in an opinion piece in the Huffington Post. Read Full Story →


China’s $9 Billion Effort to Beat the U.S. in Genetic Testing

Lindsay Weekes knew something was wrong as soon as her son was born.

Her pregnancy had been easy. The baby was a strapping 6 pounds, 12 ounces, with thick, curly black hair like his father’s. But from the first moment Quinlan drew air, Lindsay could see he was tense, his muscles rigid.

Within 24 hours, Quinlan was whisked away from their hospital to an intensive care unit at a nearby medical university. There he began a battery of tests in hopes of diagnosing his disorder, the start of a tortuous journey that has thrust the family into the center of a global economic race to push the limits of medicine.

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(Photo credit: Steve Babuljak)

The search for an answer has taken Quinlan to the cutting edge of the emerging field: the use of genomics, the study of our DNA, to tailor health care. The United States has long been the industry’s undisputed leader, performing much of the research that first decoded our DNA about 15 years ago.

But now China is emerging as America’s fiercest competitor, writes Ylan Q. Mui for Washington Post. And it is sinking billions of dollars into research and funding promising new companies both at home and abroad — including a laboratory that handles some of the toughest cases at Boston Children’s Hospital, where Quinlan has become a favorite of the staff… Read Full Story →


Every Cell in Your Body Has the Same DNA. Except It Doesn’t.

James Priest couldn’t make sense of it. He was examining the DNA of a desperately ill baby, searching for a genetic mutation that threatened to stop her heart. But the results looked as if they had come from two different infants.

“I was just flabbergasted,” said Dr. Priest, a pediatric cardiologist at Stanford University.

The baby, it turned out, carried a mixture of genetically distinct cells, a condition known as mosaicism. Some of her cells carried the deadly mutation, but others did not. They could have belonged to a healthy child.

We’re accustomed to thinking of our cells sharing an identical set of genes, writes Carl Zimmer for The New York Times, faithfully copied ever since we were mere fertilized eggs. When we talk about our genome — all the DNA in our cells — we speak in the singular… Read Full Story →