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Genetic Linkage

Genetics in 2016: Breakthrough, Breakdown, and Bridge

I dislike end-of-year "best of" lists, especially the "breakthroughs" that imply scientific discoveries and medical advances emerge from out of nowhere. Often they're the product of PR machines that select and then catapult certain research findings into the news releases that dictate the headlines.

WHAT MAKES SCIENCE NEWS?
Much of science news is released to journalists ahead of time (embargoed) so that we can investigate background and conduct interviews. This year, the Food and Drug Administration began offering news even earlier to select media outlets.  Read More 
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Linking Gaucher and Parkinson’s Diseases

"Gaucher cells" have a crinkly appearance from the build-up of glucocerebroside.
This month, JScreen’s ”Spit Happens" campaign is covering all costs not met by insurance for testing for carrier status for Gaucher disease, thanks to funding from the National Gaucher Foundation. The "spit happens" is an entertaining view of people spitting into tubes to collect DNA from dislodged cheek lining cells. Read More 
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Parent Roundtable: Before and After Gene Therapy

Eliza had gene therapy this past spring, and is showing small signs of improvement.
As the revamped 21st Century Cures Act winds its way through the lame duck Congress, I’m reminded of a spellbinding dinner on Sunday night, October 16. It was the eve of the annual "breakthrough summit" for the National Organization for Rare Disorders, and I’d introduced a group of new friends to share their stories of life with a child who has had, or will have, gene therapy. Read More 
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Why I Yanked "Morlock Nation"

On Thursday, November 10, I briefly posted a blog called “Donald Trump and the New Morlock Nation” on my usual website (not this one). I took the post down after threatening comments were posted and the tone was escalating.

I regret having given up my first amendment rights to bullies. I would rather have had a conversation. The commenters did not understand my point – that our differences taken to extremes and under some pretty unlikely circumstances (plus a very long time) could theoretically lead to a speciation event.

The post dealt with the contribution of heredity to intelligence. I used many disclaimers and never used a judgmental term such as “subspecies,” although I was accused of having done so.

My scenario based on theoretical population genetics had appropriate links to back up my hypothesis – for that is all it was. I meant no harm.

If anyone wishes to contact me through this website, I can send a word document by email, with or without links, of the post. This offer is to promote education.

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“Rare Is Everywhere” – Support a New Children’s Book

We treasure rare genetic variants in our pets – from multi-toed cats to white rabbits to short-legged hounds. But genetic variants that cause disease – in people and pets – can be not only devastating, but isolating when no one has heard of them. That's particularly so for children.

Deborah Katz, a professor of nursing as well as a medical writer and editor and an artist, decided to do something to help children dealing with rare genetic diseases. She’s written a marvelous book, “Rare is Everywhere,” that taps into genetic quirks in beloved animals. A kickstarter campaign to fund the first print run is underway now, ending November 22. All proceeds will go to the Rare Disease Foundation a non-profit that funds research and programs for children with rare diseases.

Ms. Katz explains how she got the idea to write “Rare is Everywhere”:

“I’ve met so many kids in the last two decades-- personally and professionally - who feel like they are the only ones that are different. Even though I would tell them “you aren't the only one, there are so many others like you, and your difference can be a strength,” I felt like just saying it didn't really have an impact.

I've always had a passion for children's literature and its power to shape and inspire, and had written numerous stories for my own children over the years that I would tell to them at bedtime. So I started thinking about writing a children's book that showed kids that differences are common. One day, one of my children asked me what it means if something is rare. In trying to answer in a meaningful, scientific sort of way, I started to explain what a gene is and how we differ from one another in a way that my child could grasp.

I then had a Eureka! moment-- I could write a book that explains what rare is by showcasing animals with genetic changes that distinguish them from other members of their species, and that also shows kids how common differences are when you take a birds-eye view of the entire animal kingdom.”


Sometimes it is better to be different. The book points out when rare variants are actually beneficial. The white spirit bear is superior at catching fish, the black penguin mother stands out to her babies, while the black jaguar fades into the backdrop of a dark forest floor. My favorite is the white alligator:

I put twigs on my head and leaves by the bunch
When birds land on me, I eat them for lunch!


Ms. Katz avoids negative terms like “mutant” and “abnormal,” but doesn’t deny that being visibly different is to stand out – such as the brown panda, blue lobster, and pink grasshopper. “Children learn that differences are everywhere - and something to celebrate!”

Please support RARE IS EVERYWHERE by purchasing a book or making any donation. Thank you!

A version of this post appeared 10/31/16 at Rare Disease Reports Read More 
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Prenatal Genetic Testing of Pap Smears

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 testing may become possible using Pap smears – as early as 5 weeks after conception. Read More 
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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 fleshing out what we thought we knew about some distinctive animal adaptations, from the giraffe to the leopard.

Adaptations are inherited traits that increase the likelihood of an individual surviving to reproduce. A zebra's stripes rendering it invisible when it runs and the fennec fox's giant ears that dissipate heat and hear distant predators are adaptations.

A report in this month’s Genome Research provides the basis for a “just-so story” about how the pangolin – aka the scaly anteater -- got its scales. They protect, but in a way beyond the obvious. According to the genome, the armor of the pangolin replaced part of its immune response.
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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 Zhang, MD, PhD, medical director and founder of New Hope Fertility in New York City, but done in Mexico, will be presented at an upcoming conference and is abstracted in a medical journal (Fertility + Sterility), but hit the headlines first in New Scientist on Tuesday. An odd choice for an announcement, but the excellent article shows some restraint in using the term “3-parent technique”. Still, it unleashed a fresh barrage of “3-parent” and “designer” baby maddening memes.

The last time “3-parent baby” hit the media, I wrote "Mitohype: 3-Parent Designer Babies Who Will Change Human Evolution". I began that post, “If I turned in a 20,337 word article and the editor decided to replace 37 of those words, would I call her a co-author? Certainly not”.

In a nutshell, 37 genes do not a parent make. I say that as a parent, not a geneticist. Read More 
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Finding The Famous Painting of the Blue People of Kentucky

The Blue People ©Walt Spitzmiller
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 stories also borrow heavily from a terrific article by Cathy Frost from Science 82, a long-gone magazine that I quite liked. Frost’s piece, “The Blue People of Troublesome Creek,” is usually credited, but the painting not, or misattributed to
ABC News, various newspapers, or simply deemed “unknown.”

The artist Walt Spitzmiller in fact painted the portrait of the Fugate family (see Walt Spitzmiller Fine Art). A Science 82 editor asked him in 1982 to draw a family, who lived in rural Kentucky, in which the father and some of the children had blue skin. “That’s all I knew about it. I did research on the period they talked about and took old photos and put them together. I added the hunting dog in the lower right, the rooster, that type of thing to add authenticity,” Walt told me.

A BRIEF HISTORY OF THE FUGATES
The blue people of Troublesome Creek had methemoglobinemia, a metabolic condition affecting hemoglobin, the four-part protein that carries oxygen bound to an iron atom at each subunit’s core.  Read More 
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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 patients had miscarried, with permission I was told, and donated the collection to the biology department.

My students were astonished at the forms that floated in size order in their test tubes and flasks, culminating in an 8-month fetus in a mayonnaise jar. I handled them with great care and respect. Read More 
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