Tag: genetics

Bioethics News

CRISPR Star Doudna Calls for Public Debate on Embryo Editing

August 4, 2017

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Tinkering with genetics, a system that has been produced through billions of years of evolution, takes humanity into unknown territory. This powerful technology can be used for many purposes, not just stopping disease. Alterations in an embryo’s edited genome would be passed along to generations of descendants — for good or ill.

Doudna, a UC Berkeley molecular biologist, said during a visit to San Diego this week that society needs to catch up to this potentially world-transforming field of science. She has co-authored a book, “A Crack in Creation,” on the benefits, perils and ethics of what scientists call germline editing.

“The question will be as the technology comes to fruition … should we use it in that fashion?” Doudna said about germline editing in a Monday interview at the American Association for Clinical Chemistry’s scientific meeting in San Diego.

… Read More

Image: 由Duncan.Hull – 自己的作品,CC BY-SA 4.0,https://commons.wikimedia.org/w/index.php?curid=54379852

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San Diego Union-Tribune

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The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

The Scariest Part of Genetic Testing?

July 31, 2017

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AnneMarie Ciccarella, a fast-talking 57-year-old brunette with a more than a hint of a New York accent, thought she knew a lot about breast cancer. Her mother was diagnosed with the disease in 1987, and several other female relatives also developed it. When doctors found a suspicious lump in one of her breasts that turned out to be cancer, she immediately sought out testing to look for mutations in the two BRCA genes, which between them account for around 20 per cent of families with a strong history of breast cancer.

Ciccarella assumed her results would be positive. They weren’t. Instead, they identified only what’s known as a variant of unknown or uncertain significance (VUS) in both BRCA1 and BRCA2. Unlike pathogenic mutations that are known to cause disease or benign ones that don’t, these genetic variations just aren’t understood enough to know if they are involved or not.

“I thought you could have a mutated gene or not, and with all the cancer in my family, I believed I would carry a mutation. I didn’t know there was this huge third category,” she says. “I got no information – it felt like a huge waste of blood to get a giant question mark.”

Thousands of people have had their BRCA genes tested for increased genetic susceptibility to breast, ovarian, prostate and other cancers. About 5% have learned that they carry a VUS. That number is even higher for other genes: in one study, almost 20% of genetic tests returned a VUS result.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Snapshots of Life: Muscling in on Development

Credit: Gabrielle Kardon, University of Utah, Salt Lake City

Twice a week, I do an hour of weight training to maintain muscle strength and tone. Millions of Americans do the same, and there’s always a lot of attention paid to those upper arm muscles—the biceps and triceps. Less appreciated is another arm muscle that pumps right along during workouts: the brachialis. This muscle—located under the biceps—helps your elbow flex when you are doing all kinds of things, whether curling a 50-pound barbell or just grabbing a bag of groceries or your luggage out of the car.

Now, scientific studies of the triceps and brachialis are providing important clues about how the body’s 40 different types of limb muscles assume their distinct identities during development [1]. In these images from the NIH-supported lab of Gabrielle Kardon at the University of Utah, Salt Lake City, you see the developing forelimb of a healthy mouse strain (top) compared to that of a mutant mouse strain with a stiff, abnormal gait (bottom).

In each strain, you see the lateral triceps and brachialis muscles (purple), other types of muscle (red) and tendons (green). However, in the healthy mouse, the lateral triceps and brachialis muscles are distinct, which gives the forelimb its flexibility; while in the mutant mouse, the two muscles are fused and indistinct, limiting the forelimb’s function.

The mice with the abnormal lateral triceps and brachialis have a mutation in a gene called Tbx3, which codes for a transcription factor that switches other genes off and on. If you follow this blog, you know that a lot of exciting research is currently focused on transcription factors, including how precise combinations of transcription factors can turn skin cells into blood stem cells or be used to make neurons.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

What I Learned From Home DNA Testing

July 25, 2017

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There may come a time in everyone’s life when they find themselves sitting at the kitchen table on an otherwise unexceptional weekday morning, drooling saliva into a test tube in the spirit of scientific inquiry.

The spit is for one of the home genetic-testing kits I’m sampling. A growing number of these kits (brands such as 23andMe, DNAFit, Thriva, MyHeritage DNA, and Orig3n) promise to unlock the mystery of your genomes, variously explaining everything from ancestry, residual Neanderthal variants, “bioinformatics” for fitness, weight loss and skincare, to more random genetic predispositions, denoting, say, the dimensions of your earlobes or the consistency of your earwax.

More controversially, some of these kits profess to tell you your biological (as opposed to actual age) by measuring the length of your telomeres (in basic terms, the caps at the end of each strand of DNA that protect chromosomes, like plastic tips at the end of shoelaces). Other tests, such as 23andMe, predict higher risks of developing serious conditions, such as multiple sclerosis, Alzheimer’s and Parkinson’s, including the test for BRCA1/BRCA2 (breast and ovarian cancer) that Angelina Jolie famously underwent, going on to have a preventative double mastectomy and surgery to remove her ovaries.

… Read More

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The Guardian

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The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

How Kids See the World Depends a Lot on Genetics

Caption: Child watches video while researchers track his eye movements.
Credit: Washington University School of Medicine, St. Louis

From the time we are born, most of us humans closely watch the world around us, paying special attention to people’s faces and expressions. Now, for the first time, an NIH-funded team has shown that the ways in which children look at faces and many other things are strongly influenced by the genes they’ve inherited from their parents.

The findings come from experiments that tracked the eye movements of toddlers watching videos of other kids or adult caregivers. The experiments showed that identical twins—who share the same genes and the same home environment—spend almost precisely the same proportion of time looking at faces, even when watching different videos. And when identical twins watched the same video, they tended to look at the same thing at almost exactly the same time! In contrast, fraternal twins—who shared the same home environment, but, on average, shared just half of their genes—had patterns of eye movement that were far less similar.

Interestingly, the researchers also found that the visual behaviors most affected in children with autism spectrum disorder (ASD)—attention to another person’s eyes and mouth—were those that also appeared to be the most heavily influenced by genetics. The discovery makes an important connection between two well-known features of ASD: a strong hereditary component and poor eye contact with other people.

The new study was led by Warren Jones, Emory University School of Medicine, Atlanta, and John Constantino, Washington University School of Medicine, St.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

A DNA App Store Is Here, but Proceed with Caution

July 24, 2017

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A Silicon Valley startup called Helix is betting on the notion that not only do people want to learn more about their DNA, but they’ll also pay to keep interacting with it.

Today the company, which was founded in 2015 with $100 million from genomics giant Illumina, is launching its much-anticipated online hub where people can digitally explore their genetic code by downloading different applications on their computers or mobile devices. Think of it as an app store for your genome (see “10 Breakthrough Technologies 2016: DNA App Store”).

Personalized genetic information has become an affordable commodity. The early success of leaders like 23andMe and AncestryDNA, which sell DNA testing kits for $200 or less, has ushered in a wave of new companies offering direct-to-consumer genetic tests for everything from ancestry to the wine you should drink based on your DNA.

… Read More

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MIT Technology Review

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The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Some Comments about Being a Philosopher of Color and the Reasons I Didn’t Write a (Real) Paper for this (Seemingly) Ideal Venue for my Work

by Sean A. Valles

ABSTRACT. This special issue conspicuously lacks work by Philosophers of Color (with the exception of this commentary). I have been given this opportunity to discuss the impediments that kept me from submitting my relevant work, offered as a small step toward recognizing the impediments faced by other Philosophers of Color. I highlight factors including direct and indirect consequences of a disproportionately White community of US philosophers, and some underrecognized risk-reward calculations that Philosophers of Color face when choosing an article project. I urge further discussion of the topic, starting with an exhortation to choose the right phenomenon and accordingly frame the right question: Why are White philosophers deliberating the “ethical and social issues arising out of the 2016 US presidential election” in a prestigious journal, while Philosophers of Color are deliberating the same issues in tense classrooms, closed offices, and on-/off-campus forums?

This is not a real article. But in this special issue on the 2016 US election and Trump it is, to my knowledge, the only contribution written by a Philosopher of Color. It is a commentary about the fact that it is the only contribution written by a Philosopher of Color.

After Editor-in-Chief Rebecca Kukla expressed consternation that the issue was full of excellent papers, but written by a roster of White philosophers, I offered to say something about why I didn’t submit any of my relevant philosophical work (on nativism, racism, health policy, Latinx health, etc.), and why it didn’t surprise me that almost none of the other well-qualified Philosophers of Color did either.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Another Milestone in the Cystic Fibrosis Journey

Caption: Two-year-old Avalyn is among the cystic fibrosis patients who may be helped by targeted drugs.
Credit: Brittany Mahoney

As NIH Director, I often hear stories of how people with serious diseases—from arthritis to Zika infection—are benefitting from the transformational power of NIH’s investments in basic science. Today, I’d like to share one such advance that I find particularly exciting: news that a combination of three molecularly targeted drugs may finally make it possible to treat the vast majority of patients with cystic fibrosis (CF), our nation’s most common genetic disease.

First, a bit of history! The first genetic mutation that causes CF was discovered by a collaborative effort between my own research lab at the University of Michigan, Ann Arbor, and colleagues at the Hospital for Sick Children in Toronto—more than 25 years ago [1]. Years of hard work, supported by the National Institutes of Health and the Cystic Fibrosis Foundation, painstakingly worked out the normal function of the protein that is altered in CF, called the cystic fibrosis transmembrane regulator (CFTR). Very recently new technologies, such as cryo-EM, have given researchers the ability to map the exact structure of the protein involved in CF.

Among the tens of thousands of CF patients who stand to benefit from the next generation of targeted drugs is little Avalyn Mahoney of Cardiff by the Sea, CA. Just a few decades ago, a kid like Avalyn—who just turned 2 last month—probably wouldn’t have made it beyond her teens. But today the outlook is far brighter for her and so many others, thanks to recent advances that build upon NIH-supported basic research.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

The Uncertain Future of Genetic Testing

July 18, 2017

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AnneMarie Ciccarella, a fast-talking 57-year-old brunette with a more than a hint of a New York accent, thought she knew a lot about breast cancer. Her mother was diagnosed with the disease in 1987, and several other female relatives also developed it. When doctors found a suspicious lump in one of her breasts that turned out to be cancer, she immediately sought out testing to look for mutations in the two BRCA genes, which between them account for around 20 per cent of families with a strong history of breast cancer.

Ciccarella assumed her results would be positive. They weren’t. Instead, they identified only what’s known as a variant of unknown or uncertain significance (VUS) in both BRCA1 and BRCA2. Unlike pathogenic mutations that are known to cause disease or benign ones that don’t, these genetic variations just aren’t understood enough to know if they are involved or not.

“I thought you could have a mutated gene or not, and with all the cancer in my family, I believed I would carry a mutation. I didn’t know there was this huge third category,” she says. “I got no information – it felt like a huge waste of blood to get a giant question mark.”

… Read More

Image: © Catherine Losing

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Mosaic

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The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

June 2017 Newsletter

Global Bioethics Initiative (GBI) is dedicated to fostering public awareness and understanding of bioethical issues, and to exploring solutions to bioethical challenges.
Through its events and activities, which include annual summer schools on global bioethics, GBI seeks to keep the international community, policy decision-makers, the media, and the general public aware of important bioethical issues which is essential for making informed decisions and fostering public debate. Using various platforms, we at GBI are able to promote our motto “Doing bioethics in real life!”.
GBI is an active member of the United Nations Academic Impact (UNAI) and enjoys a special consultative status with the United Nations Economic and Social Council, the UN’s central platform for debate, reflection, and innovative thinking on sustainable development. Check out our website here.
Global Bioethics Initiative (GBI) launches
its third edition Summer School Program

NYC (June 19-30), 2017New York, New York June 19, 2017: GBI starts its summer school program sponsored by Pace University, College of Health Professions and New York
Medical College. Lead by experts in the field of Bioethics, students and professionals will witness Bioethics in various forms such as film screenings, field trips, and lectures/seminars, ending with a completion ceremony. Topics addressed in the program are: embryonic stem cell research, cloning, gene therapy, end-of-life care, genetics, reproductive technologies, human subject research, organ transplantation and access to health care.

“I am absolutely confident you leave this program enriched, “said Dr. Bruce Gelb, President of GBI. You will find that what you learn over the coming days, will impact how you interact and engage with the world in many aspects of life.”

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.