a genetics

Scientists discover shared genetic origin for MND and schizophrenia

Researchers from Trinity College Dublin have shown for the first time that Motor Neurone Disease (MND) – also known as Amyotrophic Lateral Sclerosis (ALS) – and schizophrenia have a shared genetic origin, indicating that the causes of these diverse conditions are biologically linked. The work has just been published in the prestigious journal Nature Communications

By analysing the genetic profiles of almost 13,000 MND cases and over 30,000 schizophrenia cases, the researchers have confirmed that many of the genes that are associated with these two very different conditions are the same.

In fact, the research has shown an overlap of 14% in genetic susceptibility to the adult onset neuro-degeneration condition ALS/MND and the developmental neuropsychiatric disorder schizophrenia.

While overlaps between schizophrenia and other neuropsychiatric conditions including bipolar affective disorder and autism have been shown in the past, this is the first time that an overlap in genetic susceptibility between MND and psychiatric conditions has been shown.

Dr Russell McLaughlin, Ussher Assistant Professor in Genome Analysis at Trinity College Dublin, and lead author of the paper said: “This study demonstrates the power of genetics in understanding the causes of diseases.“

"While neurological and psychiatric conditions may have very different characteristics and clinical presentations, our work has shown that the biological pathways that lead to these diverse conditions have much in common.”

Professor Hardiman said: “Our work over the years has shown us that MND is a much more complex disease than we originally thought. Our recent observations of links with psychiatric conditions in some families have made us think differently about how we should study MND. When combined with our clinical work and our studies using MRI and EEG, it becomes clear that MND is not just a disorder of individual nerve cells, but a disorder of the way these nerve cells talk to one another as part of a larger network.”

She continued: “So instead of thinking of MND as a degeneration of one cell at a time, and looking for a ‘magic bullet’ treatment that works, we should think about MND in the same way that we think about schizophrenia, which is a problem of disruptions in connectivity between different regions of the brain, and we should look for drugs that help to stabilise the failing brain networks.”  

“The other significant issue that this research brings up is that the divide between psychiatry and neurology is a false one. We need to recognise that brain disease has many different manifestations, and the best way to develop new treatments is to understand the biology of what is happening. This will have major implications for how we classify diseases going forward, and in turn how we train our future doctors in both psychiatry and neurology. That in itself will have knock-on consequences for how society understands, approaches and treats people with psychiatric and neurological conditions.“

The new research was prompted by earlier epidemiological studies by researchers at Trinity, led by Professor Hardiman. These studies showed that people with MND were more likely than expected to have other family members with schizophrenia, and to have had another family member who had committed suicide.

This was first noted as family histories were ascertained from people with MND in the National ALS Clinic and was subsequently investigated as part of case control studies in Ireland in which over 192 families with MND and 200 controls participated. Details of over 12,000 relatives were analysed and the rates of various neurological and psychiatric conditions calculated in family member of those with MND and controls. This work was subsequently published in the prestigious American journal the Annals of Neurology in 2013.

This led the Trinity group to team up with European collaborators in MND including the University of Utrecht, Kings College London and members of the Project MinE and Psychiatric Genome Consortia to see if these epidemiological observations could be due to a genetic overlap between MND and schizophrenia.

The Trinity group, along with their partners in the University of Utrecht, will continue to study the links between MND and psychiatric conditions using modern genetics, epidemiology and neuroimaging, and in this way will develop new and more effective treatments that are based on stabilizing disrupted brain networks.

archiveofourown.org
21st Century Cure - Chapter 1 - Airafleeza - Captain America (Movies) [Archive of Our Own]
An Archive of Our Own, a project of the Organization for Transformative Works
By Organization for Transformative Works

Chapters: 11/11
Fandom: Captain America (Movies)
Rating: Teen And Up Audiences
Warnings: No Archive Warnings Apply
Relationships: James “Bucky” Barnes/Steve Rogers, Steve Rogers & Natasha Romanov, Steve Rogers & Sam Wilson, Clint Barton & Natasha Romanov, Peggy Carter & Steve Rogers, Minor or Background Relationship(s), Peggy Carter/Angie Martinelli
Characters: Steve Rogers, Natasha Romanov, Clint Barton, Sam Wilson (Marvel), James “Bucky” Barnes, Arnim Zola, Peggy Carter
Additional Tags: Repo! the Genetic Opera AU, Other Additional Tags to Be Added, Canon Disabled Character, Alternate Universe - Dystopia, Medical Inaccuracies, Medical Trauma, Natasha Romanov Is a Good Bro, Sam Wilson is a Gift, Pining, Flashbacks, Pre-Serum Steve Rogers, Post-Serum Steve Rogers, mild body horror, Idiots in Love, Angst, Hurt/Comfort, Self-Sacrificing Steve Rogers
Series: Part 1 of When the infection ends, we begin
Summary:

A face didn’t really mean anything, especially in the day and age of plastic surgery as a fashion statement. He had come to think of bones, their structure, as a land— a foundation— that people built upon. He knew that there were at least seven other people in this world at any one point that could share a face. It’s how biology worked— there were only so many combinations of features the world can hope to generate. It was nature, but Steve was disturbed to his bones— deep into his sickly marrow, his core— because it was unnatural to see someone with a face that looked like Bucky’s.

It was worse how Steve’s pulse quickened, but not out of horror. It was wrong how Steve felt like he’d won the lottery before he remembered: it could never be Bucky.

Or, the Repo! Genetic Opera AU no one ever asked for where the future still isn’t kind to Steve Rogers.

THE LAST CHAPTER OF THE MAIN SERIES

the mushy sequel is brief and being proofed but

THANK YOU ALL WHO READ <3 <3 <3

npr.org
Exclusive: Inside The Lab Where Scientists Are Editing DNA In Human Embryos
NPR gets exclusive access to a lab in Portland, Ore., where scientists have begun editing the DNA in human embryos to try to prevent genetic diseases.

“I don’t think I’m playing God,” Mitalipov says. “We have intelligence to understand diseases, eliminate suffering. And that’s what I think is the right thing to do.”

You can’t play god when there is none.

4

In 2010, Sonia Vallabh watched her mom, Kamni Vallabh, die in a really horrible way.

First, her mom’s memory started to go, then she lost the ability to reason. Sonia says it was like watching someone get unplugged from the world. By the end, it was as if she was stuck between being awake and asleep. She was confused and uncomfortable all the time.

“Even when awake, was she fully or was she really? And when asleep, was she really asleep?” says Sonia.

The smart, warm, artistic Kamni – just 51 years old — was disappearing into profound dementia.

“I think until you’ve seen it, it’s hard to actually imagine what it is for a person to be alive and their body is moving around, but their brain is not there anymore,” says Eric Minikel, Sonia’s husband.

In less than a year, Sonia’s mom died.

An autopsy showed Kamni had died from something rare — a prion disease. Specifically, one called fatal familial insomnia because in some patients it steals the ability to fall asleep.

Basically, certain molecules had started clumping together in Kamni’s brain, killing her brain cells. It was all because of one tiny error in her DNA — an “A” where there was supposed to be a “G,” a single typo in a manuscript of 6 billion letters.

Sonia sent a sample of her own blood to a lab, where a test confirmed she inherited the same mutation. The finding threw the family into grief all over again.

Today, Sonia and her husband live and work in Cambridge, Mass., where they are both doctoral students in the lab of Stuart Schreiber, a Harvard professor of chemistry and chemical biology. Over the past several years, the couple has completely redirected their careers and their lives toward this single goal: to prevent prion disease from ever making Sonia sick.

A Couple’s Quest To Stop A Rare Disease Before It Takes One Of Them

Photos: Kayana Szymczak for NPR

npr.org
Scientists Precisely Edit DNA In Human Embryos To Fix A Disease Gene
In experimental embryos, scientists were able to repair the gene that causes a serious heart disorder. But more research is needed to confirm the method would produce healthy babies, they say.

An international team of scientists reports they have successfully figured out a way to edit DNA in human embryos — without introducing the harmful mutations that were a problem in previous attempts elsewhere. The work was published online Wednesday in the journal Nature.

(From a Q&A with Pablo Hidalgo, 2003)
“[Leia] has a real image of her father.  It’s Bail Organa.”

I really loved this answer for something I hadn’t thought too much of.  It’s fairly common to have Leia not thinking of Anakin Skywalker as her father, but it’s something that I appreciate being laid out here all the same–that biology is not the be-all-end-all of family relationships and that it’s about what the character themselves want.

Luke always wanted a father, he daydreamed about it all his life.  Leia, on the other hand, was satisfied with her life, and so her real family is the one she lost on Alderaan.  But, to be fair, Luke was also on an incredibly boring planet, while Leia lived a much more exciting life, he had much more to yearn for than she did, he felt a pull to the stars in a way that she was already living out.

They were both raised with two loving adults who weren’t their biological parents, but it depended on what the person at the center themselves wanted and how they felt about it, not about this idea that sharing genetic material with someone should always be triumphant over the people who cared for you, who were there day in and day out, who taught you, who played with you, who tucked you into bed, who answered your questions when you had them, who loved you.

It’s one of my favorite things about Star Wars, that whether it’s Leia with the Organas or the adoptions of the Jedi or the found family of the Phoenix crew, that family doesn’t have to be just genetics.  Family are the people who care for you and are there for those important moments in your life and are the ones that influence you.  Family can be about blood, but it doesn’t have to be, and those families don’t have to be traditional structures (though, those are good, too!) to be real.

What if….? 

Based on this ask I got yesterday - what if Sandstorm & Dustpelt became mates? Like I said i don’t think their relationship would last very long, as Sandstorm would be too bossy and dominant over Dustpelt and she wouldn’t be satisfied with him as a mate. The two break up before their kits become apprentices, and Dustpelt eventually becomes mates with Ferncloud, with Sandstorm going on to become deputy. 

Shrewkit, Leafkit, Squirrelkit, Spiderkit