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E.E. Giorgi
Attended University of Southern California
Lives in New Mexico, USA
29,302 followers|64,286,380 views
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thank you +Shelly Gunderson , +Kristina Prior , and +Naghmeh Khadembashi 

strega +Alberto Cane , basta guardare il naso! :-) (il mio, non quello della modella)

thank you +Giselle Savoie , +Sumit Sen , and +Rob Asnong 

hehe, not sure myself either +George Marquardt , thank you

thank you +Paul Paradis and +Mike Martin 
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E.E. Giorgi

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For +ScienceSunday : an announcement and a question

I'll reshare on Sunday, but if I don't write it now I'm going to forget :-)

Announcement I'm hosting the next edition of the Carnival of Evolution , a monthly event where we share posts and articles dedicated to evolution. If you wrote or read a post that you would like to share (needs to be recent and about evolution), please post the link on the FB page:
https://www.facebook.com/carnyevolution/posts/783246401699495
or send it to me at eegiorgi(at)gmail and I'll share on my blog on May 1st. 

Question/Topic for Discussion 
I work on genetic epidemiology: basically we look at genes and try to find associations between gene alleles and diseases. The problem though is that most of the time we find nothing. It's called the Missing Heritability Problem:

"The "missing heritability" problem can be defined as the fact that individual genes cannot account for much of the heritability of diseases, behaviors, and other phenotypes. This is a problem that has significant implications for medicine, since a person's susceptibility to disease may depend more on "the combined effect of all the genes in the background than on the disease genes in the foreground" [Wikipedia].

Yesterday I went to a fascinating talk about amyloids , proteins that don't fold properly hence they don't function properly. Proteins have a 3D structure that can change as their function changes. Amyloids arise when proteins don't fold properly into their 3D structure. They start accumulating and they become toxic to the cell. This toxic accumulation of amyloids has been associated to many diseases -- diabetes, parkinson and alzheimer in particular.

Now, here is the intriguing bit. While in some cases this misfolding is caused by one mutated gene allele that eventually takes over, in many cases the misfolding can happen without any mutation in the DNA.

So, my question for the experts is: could this misfolding explain some of the missing heritability? Has anybody looked at that? I searched on PubMed for both "missing heritability" and "protein misfolding" but found nothing. I'd be curious to know what people in the +ScienceSunday community think. 

+Allison Sekuler , +Rajini Rao , +Buddhini Samarasinghe 
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E.E. Giorgi

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Upper Antelope Canyon, AZ

So glad I purchased the Canon Pro Services because my camera and lens now are sooo due a thorough cleaning! We got sand in our ears, nose and eyes, can you imagine what's gotten in my lens ? ;-)

Happy Monday everyone, thank you for your continued support!
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Belo trabalho Parabéns !!!
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Horseshoe bend -- Page, AZ

A huge THANK YOU to all of your for reading my book and sharing my shameless book promotions, you guys are SO awesome -- THANK YOU for making my dream come true!!!

Fellow writer Kimberly Afe is hosting an author spotlight and interview on her blog: leave a comment for a chance to win a Kindle copy of CHIMERAS and a $5 Amazon gift card!http://goo.gl/p6J8YQ

CHIMERAS on Amazon: amazon.com/dp/B00JI6UNPE

#ChimerasThriler  
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Woow great !
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Science lovers, I just did a guest post on chimerism over at the Writer's Forensics Blog, below is the link. 

#sciencesunday   #scienceeveryday     #ChimerasThriller  
For years now the concept of a “genetic chimera” has sparked the imagination of writers: from Stephen King to Michael Crichton, from CSI to The Office. The idea that an individual could harbor his/...
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no worries Cherie, any time is good -- thank you !
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Have her in circles
29,302 people

E.E. Giorgi

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The missing heritability puzzle

"The "missing heritability" problem can be defined as the fact that individual genes cannot account for much of the heritability of diseases, behaviors, and other phenotypes. This is a problem that has significant implications for medicine, since a person's susceptibility to disease may depend more on "the combined effect of all the genes in the background than on the disease genes in the foreground" [Wikipedia].

I've discussed the issue here: http://goo.gl/2sQjsW

In summary, there are the following hypothesis:

1) some variants are too rare and we simply don't have the power to find them (I'm not convinced this is the case, but that's personal opinion);

2) there are epistatic effects and genes don't work "solo" but rather in concert, hence every time we look at single genes we miss the big picture; more here: http://goo.gl/5MvOS5

3) the mutations could be happening at the RNA level, not the DNA;

4) since the discovery that epigenetic changes are inheritable, a lot of interest has been focused in finding mutations in the epigenome rather than the genome; more on epigenetics and how we could possibly inherit changes that are not encoded in the DNA here: http://goo.gl/uF2Q5H

I wonder if the missing heritability puzzle has lost interest now that much of the focus has shifted on epigenetics. I want to bring the debate back because of something I recently discovered: 

amyloids  are proteins that don't fold properly. Proteins can take different 3D structures (conformations) that change as their function changes. These structures are essential for the protein to function properly. If a protein fails to fold and reach the necessary conformation, then it won't function properly.

Amyloids arise when proteins don't fold properly into their 3D structure. They start accumulating and they become toxic to the cell. This toxic accumulation of amyloids has been associated to many diseases -- diabetes, parkinson and alzheimer in particular.

Now, here is the intriguing bit. While in some cases this misfolding is caused by one mutated gene allele that eventually takes over, in many cases the misfolding can happen without any mutation in the DNA.

So, my question for the experts is: could this misfolding explain some of the missing heritability? Has anybody looked at that? I searched on PubMed for both "missing heritability" and "protein misfolding" but found nothing. 

Since this is not my field, but I'd love to know more about it, I wanted to share my thoughts with +ScienceSunday and see if somebody in the community has some references to suggest.

Thank you and a happy holiday to all!

+Allison Sekuler , +Buddhini Samarasinghe , +Rajini Rao , and +Robby Bowles 
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i ma
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Hey, not to be pulling another plug here (coughs), but did you know that if you have Amazon Prime you can read CHIMERAS for free through the Kindle Landing Library ? So, what are you waiting for? Click!! :-)

What people are saying :

"Classic hard-boiled noir crime thriller sculpted by lovely prose and set in the present, this is a surprisingly terrific read." -- Cole Alpaugh, author of The Bear in a Muddy Tutu and The Spy's Little Zonbi

"I was intrigued by the opening, and the questions I had kept me intrigued as the investigation unfolded. E. E. Giorgi writes some truly gorgeous prose, and I felt like I was experiencing everything right along with Track." -- Autumn Kalquist, author of The Legacy Code

"Devilish sense of humor +  scientist = Seriously talented writer who can paint vivid emotions and draw you into surprising perspectives as easily as a summer breeze. Driven by activated, hypersensitive predator genes long silent over our evolution, science meets thriller/mystery in Chimeras through "Track", a homicide detective, part wild animal, part charged up man-a chimera."  - Alex Alaniz, author of A Temporal Opera

"This book is like a Michael Crichton written with the witty sarcasm of the classic detective noir." -- C., Amazon review

"Beautifully written with complex characters and an intriguing plot, the dialogue is spot on and the pacing perfect for the genre." -- Rowan Greene, Amazon review

"The debut novel from E.E. Giorgi, Chimeras is a delightful combination of hot prose and cool science. I was hooked on the first sentence of:

It was one of those hot summer afternoons, with air made of cobwebs and a glare as sharp as pencils .

Wonderful stuff, that, and the book continues to delight with prose that streams out like Chandler." -- Steven Halter, Amazon review


#chimerasthriller  
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Thx!
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The CHIMERAS paperback edition just came out:

http://www.amazon.com/Chimeras-Track-Presius-Volume-1/dp/0996045104/ref=sr_1_2?ie=UTF8&qid=1397154065&sr=8-2&keywords=chimeras+giorgi

Also, my friend +Elena Yang did a lovely interview on the Los Alamos Daily Post, check it out if you're curious about what inspires my insanity. ;-)

thank you all so much !

#ChimerasThriller  
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<3 thank you so much Michelle !!!! 
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It's here!!!!

Check it out: http://www.amazon.com/dp/B00JI6UNPE

You guys have been amazing with your encouragement and support. Thank you all for the love !!!!

I have one more favor to ask: the greatest hurdle for an indie author is to get visibility. That's what publishers do for their authors: they advertise them. Us indies, we gotta climb the incline on our own. How do we do that? There's a magic word: Reviews   CHIMERAS right now needs LOTS of reviews.

Sooooo, to encourage people to review CHIMERAS, I'm having a sweepstake over at my blog. Click on the link below to see the details. The Kindle copy costs less than a cup of coffee: grab a copy, read it, review it, enter the sweepstake. And next thing you know, you'll have one of my prints, matted and autographed, hanging on your wall. :-)

Thank you all for the support !!!

#ChimerasThriller  
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Beautiful !
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Have her in circles
29,302 people
Education
  • University of Southern California
    Biostatistics
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Gender
Female
Other names
Elena
Story
Tagline
Listening to Jazz...
Introduction
I'm a scientist, a writer and a photographer. I spend my days analyzing HIV data, my evenings chasing sunsets, and my night pretending I'm somebody else. 

My images are available for licensing! For more information visit my smugmug website. My detective thriller CHIMERAS will be released next month, to get a free ARC copy, please read this post

Cameras: Canon 40D, Canon 5D Mk2.
Lenses: Canon EF 100mm L f/2.8, Canon EF 24-105mm L f/4, Canon EF 70-200mm L f/4, Sigma 15mm f/2.8.
Software: LR 4, PS Elements 10.
Filters: Lee GND 9.0, Singh Ray reverse GND, 9.0, Formatt ND 12.0.
Tripod: Induro AKB0.
Rules: NONE.

I blog about genetics.

About my posts: my images are under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License. My opinions, instead, are just mine. Credit my work appropriately. In addition, for commercial use you will need to contact me for licensing terms. Please visit my website for more information. 



Bragging rights
I scored way below average on the Narcissistic Personality test. That's about the only thing that seems worth bragging about.
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Currently
New Mexico, USA
Previously
Pasadena, CA, USA - Valencia, SPAIN - Vienna, AUSTRIA - Amherst, MA, USA - Eugene, OR, USA - Oakridge, TN, USA - Rosignano, ITALY - Edinburgh, UK