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Genetic Linkage

‘Voluntary Euthanasia’: Are We Ready to Harvest Organs While Donors Are Still Alive?

In the dystopian society of Nobel prizewinner Kazuo Ishiguro’s Never Let Me Go, cloned people are raised to provide organs for the wealthy.

So stark and terrifying is Ishiguro’s imagined world that I never thought I’d read something similar in a work of nonfiction, let alone in a top medical journal. But a Perspective in the September 6 New England Journal of Medicine (NEJM), "Voluntary Euthanasia – Implications for Organ Donation," eerily echoes some aspects of the 2005 novel (and forgettable 2010 film): choosing to donate one’s organs before death, minus the coercion and cloning.

To continue reading go to Genetic Literacy Project, where this post first appeared. Read More 
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A Natural History Study Isn’t Necessarily About Dinosaurs

Many scientists trace their childhood inspiration to the towering skeletons of dinosaurs that still reign over the regal lobbies of the American Museum of Natural History, myself included. But “natural history” has a different meaning in medical research, especially in evaluating new treatments for rare diseases. Searching PubMed under “natural history study” turns up a curious 75,000 or so entries, including rare diseases and museum taxidermy.

A medical natural history study looks at how a disease unfolds over time, in real patients, to provide a point of comparison and variability for evaluating new treatments. A neurologist, for example, might know how to handle an otherwise healthy child with ADHD; a youngster with ADHD as part of Sanfilippo syndrome presents a different clinical picture. A natural history study provides an idea of what to expect.

To continue reading go to DNA Science, my blog at Public Library of Science, where this post first appeared. Read More 
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Y Chromosomes in the News and #MeToo

The firing of CBS CEO Les Moonves for his alleged history of revolting attacks on women and the upcoming one-year anniversary of Ronan Farrow’s seminal New Yorker piece on Harvey Weinstein and of Alyssa Milano’s #MeToo tweet echoing Tarana Burke’s 2006 call-to-action, got me pondering the Y chromosome.

Genomically speaking, the diminutive Y is the only thing that distinguishes males from females (see “Y Envy"). Both sexes have X chromosomes, and although mitochondrial DNA passes from females to all offspring, we all have mitochondria. Only the Y is the male’s alone.

If size matters, the Y chromosome loses. The human X has about 1500 protein-encoding genes compared to the Y’s 231, some of which have counterparts on the X. Only a handful of Y genes, in the “male-specific region” of the chromosome, are uniquely male. They include the SRY gene that determines maleness and a few others that control fertility.

So the Y chromosome can tell us some interesting things about the male of the species.

To continue reading go to DNA Science, where this post first appeared. Read More 
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Gene Silencing Through RNA Interference Scores First Drug Approval

The Food and Drug Administration recently approved the first drug based on RNA interference (RNAi). Unlike media darlings gene therapy and gene editing, RNAi silences genes. The first approval is a milestone two decades in the making.

The new drug, Onpattro (patisiran), treats the tingling, tickling, and burning sensations from the rare condition hereditary transthyretin-mediated amyloidosis, aka hATTR. About 3,000 people have it in the US. Alnylam Pharmaceuticals provides this “first-of-its-kind RNA interference (RNAi) therapeutic.” Like other new nucleic-acid based treatments, it’s pricey. The cost per year for the every-third-week intravenous infusion is $450,000.

To continue reading go to Genetic Literacy Project, where this post first appeared. Read More 
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Matching Cancer Patients to Targeted Drugs: Two New Tools

A choreography of mutational events drives cancer cells to invade and metastasize, changing the biology in ways that enable the errant cells to resist treatments. While the traditional slash-and-burn approaches of chemotherapy and radiation attack rapidly-dividing cells, targeted treatments zero in on the altered proteins that reflect precise genetic changes in tumor cells. These are the somatic (“body”) mutations in just the affected cells, not the inherited mutations present in all of a patient’s cells.

Two new papers introduce tools to better match patients to targeted treatments or immunotherapies, based on interpreting the mutations behind a cancer’s initiation and spread. One is a machine learning tool called Cerebro, the other a scale for physicians to rank the evidence that a particular targeted treatment will work against a tumor with specific mutations.

To continue reading go to DNA Science Blog at Public Library of Science, where this post first appeared. Read More 
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