To better understand ADHD and unlock targeted therapies we must
1) close diagnostic gaps
2) build diverse and representative cohorts
only then will the science be robust enough to benefit everyone.
1) close diagnostic gaps
2) build diverse and representative cohorts
only then will the science be robust enough to benefit everyone.
April 5, 2025 at 2:40 PM
To better understand ADHD and unlock targeted therapies we must
1) close diagnostic gaps
2) build diverse and representative cohorts
only then will the science be robust enough to benefit everyone.
1) close diagnostic gaps
2) build diverse and representative cohorts
only then will the science be robust enough to benefit everyone.
This matters! When ADHD is under diagnosed, especially in underrepresented groups (diverse populations), research outcome can be skewed, gene discovery limited and equitable progress delayed.
April 5, 2025 at 2:40 PM
This matters! When ADHD is under diagnosed, especially in underrepresented groups (diverse populations), research outcome can be skewed, gene discovery limited and equitable progress delayed.
Meanwhile, Dr S.Young's overview of ADHD makes clear that
a) ADHD is often missed in women, inattentive sub-types and high functioning individuals
b) comorbidities e.g. anxiety and depression can mask core symptoms
c) 1 in 5 young people in the UK transition to adult ADHD services successfully
a) ADHD is often missed in women, inattentive sub-types and high functioning individuals
b) comorbidities e.g. anxiety and depression can mask core symptoms
c) 1 in 5 young people in the UK transition to adult ADHD services successfully
April 5, 2025 at 2:40 PM
Meanwhile, Dr S.Young's overview of ADHD makes clear that
a) ADHD is often missed in women, inattentive sub-types and high functioning individuals
b) comorbidities e.g. anxiety and depression can mask core symptoms
c) 1 in 5 young people in the UK transition to adult ADHD services successfully
a) ADHD is often missed in women, inattentive sub-types and high functioning individuals
b) comorbidities e.g. anxiety and depression can mask core symptoms
c) 1 in 5 young people in the UK transition to adult ADHD services successfully
Both KDM5B and EP400 support the growing evidence that epigenetic and transcriptional dysregulation may play a role in the condition's aetiology. However, it's early to say. We need larger, ancestrally diverse cohorts for more confident gene discovery.
April 5, 2025 at 2:40 PM
Both KDM5B and EP400 support the growing evidence that epigenetic and transcriptional dysregulation may play a role in the condition's aetiology. However, it's early to say. We need larger, ancestrally diverse cohorts for more confident gene discovery.
A second study analysed over 8K cases and 1049 trios from a more diverse cohort (NFE, AFR, AMR) and found EP400 to have a higher burden of damaging variants in AFR vs NFE - after adjusting for ancestral background. doi.org/10.1101/2025...
Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes
Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder, but its genetic architecture remains incompletely characterized. Rare coding variants, which can prof...
doi.org
April 5, 2025 at 2:40 PM
A second study analysed over 8K cases and 1049 trios from a more diverse cohort (NFE, AFR, AMR) and found EP400 to have a higher burden of damaging variants in AFR vs NFE - after adjusting for ancestral background. doi.org/10.1101/2025...
expanding the cohort (+3K cases) revealed KDM5B as a high confidence ADHD risk gene. KDM5B is also linked to other ND phenotypes (ASD, DD, cognitive traits) however the two identified probands with ADHD had no other comorbidities - highlighting the associated pleiotropy with KDM5B
April 5, 2025 at 2:40 PM
expanding the cohort (+3K cases) revealed KDM5B as a high confidence ADHD risk gene. KDM5B is also linked to other ND phenotypes (ASD, DD, cognitive traits) however the two identified probands with ADHD had no other comorbidities - highlighting the associated pleiotropy with KDM5B
A WES trio study found x1.93 enrichment of ultra rare PTVs in ADHD cases vs controls. doi.org/10.1038/s414...
Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes - Nature Communications
Here, whole-exome DNA sequencing study of parent-child trios shows a significant enrichment of rare and ultra-rare de novo gene-damaging mutations in children with ADHD compared to unaffected controls...
doi.org
April 5, 2025 at 2:40 PM
A WES trio study found x1.93 enrichment of ultra rare PTVs in ADHD cases vs controls. doi.org/10.1038/s414...
ADHD is ~80% heritable based on twin studies.
Common variants explain ~30% of the missing heritability.
Common variants explain ~30% of the missing heritability.
April 5, 2025 at 2:40 PM
ADHD is ~80% heritable based on twin studies.
Common variants explain ~30% of the missing heritability.
Common variants explain ~30% of the missing heritability.