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There is no single cause of autism but with approx 80% heritability - #ThinkGenetics
https://t.co/QvquswOt4t
Variants in the DENND2B gene, located on the 'p' arm of chromosome 11, are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.
#ThinkGenetics
https://t.co/WzucDkhQRV #11p15
@PaulWhiteleyPhD
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.
#CNVs #ThinkGenetics
https://t.co/jKigUapnqP
Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by the presence of extra genetic material from chromosome 12.
#ThinkGenetics
#Chromodiversity
Today is Pallister-Killian Syndrome (PKS) Awareness Day!
Let’s work together to raise awareness and celebrate the diversity that makes our community so special.
Download our guide to PKS here: https://t.co/m6xVaszfMJ
#PKSAwarenessDay #RareChromosome #UniqueCharity #PKS
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals
#NDDs #CNVs #ThinkGenetics
https://t.co/2ISCP0AxsT
The gene responsible for aldolase B deficiency, also known as hereditary fructose intolerance (HFI), is the ALDOB gene.
This gene is located on chromosome 9, specifically at the 9q22.3 or 9q31.1 band. #ThinkGenetics
Welcome to our new member Hereditary Fructose Intolerance (HFI) UK. HFI is a rare genetic disorder where the body cannot properly break down fructose, leading to serious health issues if fructose or sucrose is consumed.
The contribution of copy number variants to psychiatric symptoms and cognitive ability. #ThinkGenetics #CNVs
https://t.co/fwi9oSckAY.
DDX3X syndrome is a rare, X-linked genetic disorder primarily affecting females, characterized by developmental delays, intellectual disability, and potentially autism spectrum disorder, ADHD, and other health issues.
#ThinkGenetics #Chromodiversity
In case you missed it ⚠️ Insights into the 🧠 brain circuit linked to the affected motor behavior of #DDX3X mutations, which can lead to new studies that might include manipulation of circuit function to eliminate motor deficits caused by DDX3X syndrome. https://t.co/6r3K0vGgdc
Irritability in children with RASopathies, insights into emotional dysregulation and social impairment
#ThinkGenetics
https://t.co/t49MI3Pkps
Creatine transporter deficiency (CTD), also known as X-linked creatine deficiency, is a genetic disorder caused by a problem in the SLC6A8 gene. This gene is located on the X chromosome, making it an X-linked disorder.
#ThinkGenetics
The Weight He Carried: How One Rare Dad Turned Heartbreak into Horsepower w/ Jeff Allen
I cried when I first interviewed Jeff. To be honest, I expected a polished media chat - maybe even a PR rep listening in, which usually takes some of the magic out of it. He’d just won $10 million on Beast Games and become the face of a viral story. Oh, and he’s not ugly.
I figured I’d get a polished pitch - but it wasn’t that. It was everything good and sturdy about a fellow rare disease parent. A dad. He was present, calming and a deep human being. The kind of person who speaks with his whole heart and makes you feel like you’ve known him forever. Jeff is the real deal.
He didn’t go on Beast Games to win. He went to show. To show the world what it means to be a parent in the rare disease community. To show what it looks like to carry a diagnosis 365 days a year and still keep showing up. To show that the power of a father’s love isn’t loud or flashy, it’s quiet, steady, and unshakably faithful.
Jeff didn’t just carry a backpack across California. He carried the weight his 7 year old son Lucas lives with every single day.
Lucas has Creatine Transporter Deficiency, a rare brain disorder that blocks creatine from reaching the brain. It leaves kids like him developmentally delayed, often nonverbal, and facing daily challenges most people never see. There’s no cure. No treatment.
When the diagnosis came, Jeff and his wife Jen were thrown into the rare disease world like so many others. Shaken. Grieving. Trying to navigate a system that wasn’t built for their child.
Lucas brought faith back into Jeff’s life. His other son Jack brought sobriety. These kids didn’t just change him, they saved him. Jeff says Lucas has taught him that there’s beauty in the bumps. That you don’t have to understand everything to love it. That real strength is being steady when life is anything but.
In 2024, Jeff applied for Beast Games, a global YouTube competition hosted by Mr. Beast. One thousand contestants competed for the largest cash prize in entertainment history: 10million dollars. Jeff wasn’t there for fame or money. He was there for Lucas.
He said, "I didn’t sign up for Beast Games just to win a competition. I did it to tell the world about my son. To show them what families like ours carry. The weight. The heartbreak. The hope. All of it."
Midway through the competition, Jeff nearly broke. Isolated. Exhausted. Homesick. He started to doubt why he was even there.
"I missed my family so badly. I started questioning everything. And then I thought about Lucas. How he wakes up every day in a world that’s not made for him and smiles anyway. I knew I had to keep going."
When the series aired in over 140 countries, Jeff’s inbox exploded. Researchers sent ideas. Scientists reached out. Strangers wanted to help. He didn’t just win a game. He created a signal flare for the entire rare disease world.
"This win was never just about me. It’s about all of us in the rare world who keep going even when no one’s watching."
After Beast Games, Jeff walked 365 miles from the Nevada border to the California coast. Each mile representing a day of the year his son lives with CTD. He wore a weighted backpack to symbolize that burden. He called it Ruck for Rare.
"I didn’t do it to prove anything. I did it because I needed the world to feel what this journey is like. The weight. The repetition. The resolve."
One of his fellow Beast Games contestants, Jeremy, a documentary filmmaker, offered to film the entire walk for free. A stranger donated to carry Jeff’s backpack for a few miles, easing his load. And then, one day, in Panamint Valley, Jeff stood on a mountaintop and wept.
"I never would’ve seen that view if someone hadn’t helped carry the weight. That’s what rare parenting is. You carry what you can. And then you let someone help. And suddenly you can see again."
"We don’t want pity. We want partnership. We want urgency. We want our kids to have time."
Before rare disease, Jeff thought strength meant grinding it out. Fixing what was broken. Showing no cracks. But rare fatherhood cracked him wide open and made him more.
"I used to think I had to fix everything. But when there’s no treatment or cure, you realize your job is to connect. To sit in the unknown with your child and still choose joy. Still choose love."
"I firmly believe Lucas chose this life. His soul chose this body. And it’s my job to figure out what he’s here to teach me."
Now Jeff spends his time reaching out to other rare dads. Not with answers. But with presence.
"Most of us just white knuckle our way through this. What we really need is to be seen. To be asked, 'How are you doing as a dad?' Not a caregiver. A dad."
"I want rare disease families watching Beast Games to see themselves in me. Not because I’m strong or smart, but because I kept showing up. I want them to feel less alone. I want them to know we can turn heartbreak into horsepower. And that I have really good hair." (Okay, he didn’t say that last part. I did.)
I have a personal review: My best friend called me after I published my interview with Jeff. Her 12 year old son, Parks - who trains for hours every day and works harder than most adults I know - had something to say. Parks is going to be in the NFL someday. Mark my words. He carries himself the way Jeff does - quietly, kindly, and with laser focus.
After watching Beast Games, Parks said, "He was fun to watch from the start. He wasn’t the top person I was rooting for in the beginning, but later he was. Everyone really trusted him and he never let them down, like being the quarterback of a football team. He stayed under the radar and was focused on one goal. You always knew what he was fighting for, and it made me think of my friend, Ford. You knew early on he wasn’t trying to win for himself. He was totally bet."
(For the "old" people - ‘bet’ means cool.)
Jeff made a 12 year old boy think of my son. This is such a beautiful example of what advocacy looks like when it’s done with integrity, focus, and love.
This isn’t a story about winning 10 million dollars. This is about a father who carried his child’s invisible weight, mile after mile, moment after moment, and kept showing up with his whole heart.
It’s a story about what happens when you walk straight into the pain and find beauty waiting for you at the top of the hill.
It’s a story about us.
And if you’ve ever carried something you didn’t choose, for someone you love more than life itself, then you already know.
This story is yours, too.
Behind rare disease data and breakthroughs, there’s a parent like, Jeff - moving mountains so the world will finally see what our kids are worth.
@endrarediseases @eperlste @MrBeast @beastgames @Legacy_831 @CreatineInfo
-By Effie Parks, CTNNB1 mom & storyteller at Once Upon a Gene. Bearing witness. Following starlight. Carrying the fuel.
Written for the Curetopia story series - real families, real stakes, and the science that just might catch up because of it.
"Worldwide, over 350 million people are affected with a rare disease, being defined as occurring in less than 1 in 2000 individuals and as such statistics indicate that a number as high as 1 in 20 people could be affected by a rare disease" #ThinkGenetics
https://t.co/EvI3ZeFjvw
🔬 ERDERA at #eshg2025 | 24–27 May | Milan & Online
Partners from ERDERA will share key insights on diagnostics and rare diseases at this major genetics event. 🔬 Join us in Milan or online to connect, exchange knowledge and explore future collaborations 💫 @eshgsociety
The mismatch repair (MMR) genes, which include MSH2, MSH6, MLH1, and PMS2, are located on different chromosomes. Specifically, MSH2 is on chromosome 2, MSH6 is also on chromosome 2, MLH1 is on chromosome 3, and PMS2 is on chromosome 7
#ThinkGenetics
Using Only Immunotherapy Successfully Treats Several Cancers With MMRd Mutation, Improves Quality of Life https://t.co/nNZNEBQ8et via @lynchsyndromirl
A Genetic Diagnosis allows for anticipatory care.
Thanks to the Dalglish Clinic for this great graphic!
#22q - the little deletion with the BIG impact.
#ThinkGenetics
"Developmental delay had a GAF of 6.2% (659 of 10,704 patients) and was linked to 301 different genetic diagnoses, the largest number of any phenotype." #ThinkGenetics
https://t.co/b2JetELEqM
The ASH1L gene, which can cause ASH1L-related disorders, is located on chromosome 1, specifically at chromosomal band 1q22. Mutations or loss of function in this gene are associated with various NDDs, including autism spectrum disorder, & intellectual disability #ThinkGenetics
A diagnostic genetic workup (including exome sequencing and CNV screening) is recommended for individuals with intellectual disability and individuals with autism spectrum disorder"
#ThinkGenetics
#CNVs #ASD #IntellectualDisabilities
@PaulWhiteleyPhD
https://t.co/dpAL7hnB70
An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure. #ThinkGenetics
@MHANPIreland
https://t.co/smSJVjVKrl
Event-related potential (ERP) markers of 22q11.2 del syndrome and associated psychosis
22q11.2DS has become an important model for several medical, developmental, and psychiatric disorders
#ThinkGenetics @StPatricks @MHReform @MHCIreland @MarycannonMary
https://t.co/KrIIUoqYrv
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