Nyx the Maine Coon has a lot of toe beans. 💕
Polydactyly is an autosomal dominant genetic trait that causes some cats to be born with extra toes.
IG: @mainegreekgarden
Polydactyly is an autosomal dominant genetic trait that causes some cats to be born with extra toes.
IG: @mainegreekgarden
September 2, 2026 at 2:23 PM
Nyx the Maine Coon has a lot of toe beans. 💕
Polydactyly is an autosomal dominant genetic trait that causes some cats to be born with extra toes.
IG: @mainegreekgarden
Polydactyly is an autosomal dominant genetic trait that causes some cats to be born with extra toes.
IG: @mainegreekgarden
Me: With an autosomal dominant trait, everyone who has the trait inherited it from a parent with that trait.
Student: I have this condition which is listed as autosomal dominant. But neither of my parents have it. How does that work?
Me:
Student: I have this condition which is listed as autosomal dominant. But neither of my parents have it. How does that work?
Me:
September 9, 2025 at 10:15 PM
Me: With an autosomal dominant trait, everyone who has the trait inherited it from a parent with that trait.
Student: I have this condition which is listed as autosomal dominant. But neither of my parents have it. How does that work?
Me:
Student: I have this condition which is listed as autosomal dominant. But neither of my parents have it. How does that work?
Me:
ADPKD = Autosomal Dominant Philip K. Dick
August 31, 2026 at 3:59 AM
ADPKD = Autosomal Dominant Philip K. Dick
Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results
"All patients had bilateral hearing restoration."
Open Access
www.nature.com/articles/s41...
"All patients had bilateral hearing restoration."
Open Access
www.nature.com/articles/s41...
December 29, 2024 at 2:21 AM
Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results
"All patients had bilateral hearing restoration."
Open Access
www.nature.com/articles/s41...
"All patients had bilateral hearing restoration."
Open Access
www.nature.com/articles/s41...
so by all accounts I have two types of EDS, both of which are autosomal dominant, meaning my kids have a 50/50 chance times two
good luck to them lmao
good luck to them lmao
I will hope that your children don’t dislocate too many things before they decide which endo to run on, then (and if they do choose to run on a testosterone-dominant endo, hopefully it will then help with not dyspraxically dislocating too much shit lol)
April 23, 2026 at 2:34 PM
so by all accounts I have two types of EDS, both of which are autosomal dominant, meaning my kids have a 50/50 chance times two
good luck to them lmao
good luck to them lmao
I speak from my own experience as a deafblind person whose sensory losses are due to an autosomal recessive disorder. In the face of denial, it took almost 30 years to get a diagnosis and treatment.
April 16, 2025 at 11:22 PM
I speak from my own experience as a deafblind person whose sensory losses are due to an autosomal recessive disorder. In the face of denial, it took almost 30 years to get a diagnosis and treatment.
at least it has a cool name
![The photic sneeze reflex (also known as ACHOO syndrome, a contrived acronym for Autosomal-dominant Compelling Helio-Ophthalmic Outburst[1]) is an inherited and](https://cdn.bsky.app/img/feed_thumbnail/plain/did:plc:uu5axsmbm2or2dngy4gwchec/bafkreidsssjprejdtxxiraxnwswcghu2vkx3emvsxkecuhr6hxixgywtvm)
September 16, 2025 at 8:15 PM
at least it has a cool name
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease worldwide and is characterized by progressive development of kidney cysts. This review discusses ADPKD diagnosed in adulthood. https://ja.ma/4c2E9lm
March 24, 2025 at 4:00 PM
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease worldwide and is characterized by progressive development of kidney cysts. This review discusses ADPKD diagnosed in adulthood. https://ja.ma/4c2E9lm
We are discussing the @kdigo.org ADPKD guidelines tomorrow on #NephJC
Perfect timing for @jama.com to drop this review
jamanetwork.com/journals/jam...
($ub required sadly 🔒)
#NephSky
Perfect timing for @jama.com to drop this review
jamanetwork.com/journals/jam...
($ub required sadly 🔒)
#NephSky
A Review of Autosomal Dominant Polycystic Kidney Disease
This review discusses the pathophysiology, clinical presentation, diagnosis, treatment, and prognosis of autosomal dominant polycystic kidney disease diagnosed in adulthood.
jamanetwork.com
March 24, 2025 at 4:08 PM
We are discussing the @kdigo.org ADPKD guidelines tomorrow on #NephJC
Perfect timing for @jama.com to drop this review
jamanetwork.com/journals/jam...
($ub required sadly 🔒)
#NephSky
Perfect timing for @jama.com to drop this review
jamanetwork.com/journals/jam...
($ub required sadly 🔒)
#NephSky
What can the atypical autosomal and sex chromosome karyotypes—i.e., beyond the XX/XY binary—of 5 people buried in Britain over the last 3,000 years teach us about human behaviour, difference, and kindness? Quite a lot.
medievalsky ♿️ 🧪
medievalsky ♿️ 🧪
Snippets—sex-chromosome syndromes in history
A recent Nature Communications article about identifying ancient atypical autosomal and sex chromosome karyotypes—beyond the XX and XY binary—in 5 Britons over the last 3,000 years can teach the 2...
nicolagriffith.com
January 15, 2024 at 8:12 PM
What can the atypical autosomal and sex chromosome karyotypes—i.e., beyond the XX/XY binary—of 5 people buried in Britain over the last 3,000 years teach us about human behaviour, difference, and kindness? Quite a lot.
medievalsky ♿️ 🧪
medievalsky ♿️ 🧪
Also, my example trait in the slides was Huntington, which is an autosomal dominant trinucleotide expansion disease with incomplete penetrance and very rarely visible before 40.
September 9, 2025 at 11:04 PM
Also, my example trait in the slides was Huntington, which is an autosomal dominant trinucleotide expansion disease with incomplete penetrance and very rarely visible before 40.
Published today in @alzdemjournals.bsky.social! We used connectome-based predictive modeling in autosomal dominant Alzheimer’s to predict tau levels & cognition in carriers years before dementia. Congrats to @vaibhavtripathi.bsky.social and team! alz-journals.onlinelibrary.wiley.com/doi/10.1002/...
Connectome‐based predictive modeling of brain pathology and cognition in autosomal dominant Alzheimer's disease
INTRODUCTION Autosomal dominant Alzheimer's disease (ADAD) through genetic mutations can result in near complete expression of the disease. Tracking AD pathology development in an ADAD cohort of Pre...
alz-journals.onlinelibrary.wiley.com
March 20, 2025 at 2:10 PM
Published today in @alzdemjournals.bsky.social! We used connectome-based predictive modeling in autosomal dominant Alzheimer’s to predict tau levels & cognition in carriers years before dementia. Congrats to @vaibhavtripathi.bsky.social and team! alz-journals.onlinelibrary.wiley.com/doi/10.1002/...
Early results from a gene therapy trial against Huntington's Disease have been incredible - far better than originally hoped for. This is wonderful news for all families suffering from this devastating, and until now untreatable, autosomal dominant disease.
🧪
🧪
September 25, 2025 at 4:35 PM
Early results from a gene therapy trial against Huntington's Disease have been incredible - far better than originally hoped for. This is wonderful news for all families suffering from this devastating, and until now untreatable, autosomal dominant disease.
🧪
🧪
Review by Anthony Bleyer et al:
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
bit.ly/3VgPMNS (FREE)
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
bit.ly/3VgPMNS (FREE)
November 16, 2025 at 11:00 PM
Review by Anthony Bleyer et al:
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
bit.ly/3VgPMNS (FREE)
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
bit.ly/3VgPMNS (FREE)
from an impacted parent is enough to cause disease. This is called autosomal dominant.
In some cases, TWO copies of a mutated allele (one from each parent) are needed to cause the disease. This is called autosomal recessive. Cystic Fibrosis is an example (Yes, Russel Vought is a carrier!) 6/n
In some cases, TWO copies of a mutated allele (one from each parent) are needed to cause the disease. This is called autosomal recessive. Cystic Fibrosis is an example (Yes, Russel Vought is a carrier!) 6/n
June 19, 2025 at 3:48 PM
from an impacted parent is enough to cause disease. This is called autosomal dominant.
In some cases, TWO copies of a mutated allele (one from each parent) are needed to cause the disease. This is called autosomal recessive. Cystic Fibrosis is an example (Yes, Russel Vought is a carrier!) 6/n
In some cases, TWO copies of a mutated allele (one from each parent) are needed to cause the disease. This is called autosomal recessive. Cystic Fibrosis is an example (Yes, Russel Vought is a carrier!) 6/n
It's called Autosomal Dominant Compelling Helioopthalmic Outburst syndrome (ACHOO) (for real, lol)
December 31, 2023 at 7:33 PM
It's called Autosomal Dominant Compelling Helioopthalmic Outburst syndrome (ACHOO) (for real, lol)
![Photic sneeze reflex:
The photic sneeze reflex (also known as ACHOO syndrome, a contrived acronym for Autosomal-dominant Compelling Helio-Ophthalmic Outburst) […]](https://cdn.bsky.app/img/feed_thumbnail/plain/did:plc:xb4ymvwaeaelcslucywsn475/bafkreihytnbmhou6kknx6xl44u3rl3h4xsmkjhgfudci5jigfwgaobu7n4)
I don't blog much recently, but I have a full archive! www.TheGeneticGenealogist.com
The Genetic Genealogist
DNA, Genetic Genealogy, Genealogy, Autosomal DNA
www.TheGeneticGenealogist.com
February 6, 2025 at 2:05 PM
I don't blog much recently, but I have a full archive! www.TheGeneticGenealogist.com
Fun Fact: the word “achoo” isn’t just an onomatopoeia it’s actually an acronym for Autosomal Cholinergic Helio-Ophthalmic Outburst which is uncontrollable sneezing in response to being exposed to bright light
Also called: Autosomal Dominant Compelling Helio-Ophthalmic Outburst
Also called: Autosomal Dominant Compelling Helio-Ophthalmic Outburst
February 8, 2025 at 1:50 AM
Fun Fact: the word “achoo” isn’t just an onomatopoeia it’s actually an acronym for Autosomal Cholinergic Helio-Ophthalmic Outburst which is uncontrollable sneezing in response to being exposed to bright light
Also called: Autosomal Dominant Compelling Helio-Ophthalmic Outburst
Also called: Autosomal Dominant Compelling Helio-Ophthalmic Outburst
Another fun possibility: I have a condition that's autosomal dominant and "neither of my parents had it"... until sufficient questioning determined the exact path it took through the family lineage, because everybody had brushed it off as a family quirk.
September 9, 2025 at 11:01 PM
Another fun possibility: I have a condition that's autosomal dominant and "neither of my parents had it"... until sufficient questioning determined the exact path it took through the family lineage, because everybody had brushed it off as a family quirk.
Holy shit. I cannot emphasize enough that this is 100% a fucking miracle.
Huntingtons is autosomal dominant, with a guaranteed death sentence.
Huntingtons is autosomal dominant, with a guaranteed death sentence.
a new mRNA therapy apparently can cut the rate of Huntington's disease progression by ~75%. yet more miracle shit www.bbc.com/news/article...
Huntington's disease successfully treated for first time
One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.
www.bbc.com
September 24, 2025 at 1:38 PM
Holy shit. I cannot emphasize enough that this is 100% a fucking miracle.
Huntingtons is autosomal dominant, with a guaranteed death sentence.
Huntingtons is autosomal dominant, with a guaranteed death sentence.