Kimberley Anderson

[Kimberley Anderson @Kimberley1A]

Our paper on Pilarowski-Björnsson syndrome is out in AJHG! We show that male sex hormones, including #testosterone, may protect against some phenotypes. Sex differences may also extend to other autosomal genetic disorders.
@BjornssonL https://t.co/SKG6aQNinm

[Kimberley Anderson @Kimberley1A]

@BjornssonL And glad to have had the opportunity to talk about this more in an interview with AJHG: https://t.co/bGzC6Bw3io

[Kimberley Anderson @Kimberley1A]

Our paper on Pilarowski-Björnsson syndrome is out in AJHG! We show that male sex hormones, including #testosterone, may protect against some phenotypes. Sex differences may also extend to other autosomal genetic disorders.
@BjornssonL https://t.co/SKG6aQNinm

[AJHG @AJHGNews]

🧬New from Anderson et al!
📄Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
https://t.co/Sk3EVNkYT4

[Bjornsson lab @BjornssonL]

Samantekt frá HÍ um nýja grein sem var að koma út í American Journal of Human Genetics: Karlhormón virðast vernda gegn áhrifum sjaldgæfs erfðasjúkdóms https://t.co/tgC7zzuN1N

[Kimberley Anderson @Kimberley1A]

We're excited about what this means for studying sex as a biological variable in rare disease.
Huge thanks to the individuals with Pilarowski-Björnsson Syndrome and families.
Read the preprint: https://t.co/e3neXVuH3h
#CHD1 #PILBOS #SexBias #RareDisease 10/

[Kimberley Anderson @Kimberley1A]

In summary:

💡CHD1 variants cause PILBOS in both sexes

💡Androgens protect against disease severity

💡Sex-biased penetrance in autosomal disease may be under-recognized

💡Hormone biology could be therapeutically relevant
#PrecisionMedicine #Genomics 9/

[Kimberley Anderson @Kimberley1A]

A different way to think about variant interpretation:
📊 When one sex is overrepresented in both clinical cohorts and population datasets, it may indicate a protective effect—not increased susceptibility.
#Genetics #SexBias 8/

[Kimberley Anderson @Kimberley1A]

Among the genes with female overrepresentation:

🧠Many regulate transcription, chromatin, and neurodevelopment

Many overlap with SFARI autism risk genes
→ The “female protective effect” may extend to many rare NDD genes
#Autism #Epigenetics 7/

[Kimberley Anderson @Kimberley1A]

We go further:
🧬Across 3,000+ constrained autosomal genes, we found 298 with sex-skewed frequencies of rare missense variants.
→ Sex-biased penetrance in Mendelian disease may be more widespread than assumed.
#MendelianGenetics 6/

[Kimberley Anderson @Kimberley1A]

Human data support this too:
🧬Rare missense variants in CHD1 are overrepresented in healthy males in both gnomAD and UK Biobank datasets.
Males may tolerate CHD1 disruption better than females.
#PopulationGenetics 5/

[Kimberley Anderson @Kimberley1A]

Remove testosterone via orchiectomy? The male mice develop the growth defect.
Give testosterone to females? Rescues the phenotype.
→ Androgens are protective. 4/
#testosterone

[Kimberley Anderson @Kimberley1A]

Using a new mouse model carrying a patient-derived missense variant (Chd1R616Q/+), we found female-restricted phenotypes like: growth deficiency, hypotonia, anxiety-like behavior.
🐭🐭🐭Male mice?
Largely spared.
Unless…
#sexdifferences 3/

[Kimberley Anderson @Kimberley1A]

PILBOS was initially described only in girls. But we now show that both sexes are affected—with males actually overrepresented in our cohort (39M:17F), yet females show more severe phenotypes.
🤷‍♀️ Why? We investigated. 2/

[Kimberley Anderson @Kimberley1A]

NEW on @medrxivpreprint: Our team @BjornssonL describes Pilarowski-Björnsson syndrome (PILBOS), a rare neurodevelopmental disorder caused by CHD1 variants—revealing sex-biased penetrance modulated by androgens.
https://t.co/e3neXVuH3h
#Genetics #Neurodevelopment #SexBias 1/

[Salvör Rafnsdóttir @SalvorRafns]

Cold stimulus mediates sex determination in turtles and vernalization in plants. Here, in my PhD work with @BjornssonL, I provide an example on how epigenetic modification is used to integrate a cold temperature environmental response into the genetic circuitry of mammals (1/n)

[Gurwinder @G_S_Bhogal]

12. Fredkin's Paradox:
The more similar two choices seem, the less the decision should matter, yet the harder it is to choose between them. As a result, we often spend the most time on the decisions that matter least.

[Tinna Reynisdóttir, PhD @tinnareynis]

I’m thrilled to share my first first-author paper! This is work with @Kimberley1A, @LeandrosBoukas and @BjornssonL. We focus on Wiedemann-Steiner syndrome (WSS), a Mendelian neurodevelopmental disorder. We believe our results are of broader interest. (1/n) https://t.co/aldFKX377F