Editor, Annals of Human Genetics

The Annals of Human Genetics, founded in 1925, aims to explore the causes and consequences of human genetic variation. Editor-in-Chief is Dr Rosemary Ekong.

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: Mendelian randomization analysis provides evidence linking increased total hip bone marrow adipose tissue (BMAT) to higher risk of Alzheimer's disease.

The results identify BMAT as a target for future AD research.

🔗 Read the full article: https://t.co/f5nq5DHvQQ

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: A novel biallelic REL frameshift variant expands the mutational spectrum of the REL gene, causing Immunodeficiency-92, an exceptionally rare inborn error of #immunity linked to profound c-Rel deficiency.

🔗 Read the full article: https://t.co/iFy4esp31B

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: Integrative multiomics and MR identify PSMA4 as a causal therapeutic target in #atherosclerosis.

Evidence supports its role in plaque biology, with proteasome inhibitors linked as potential repurposing candidates.

🔗 Read the full article: https://t.co/s3KMF6jmTh

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: MR and colocalization analyses assessed whether genetically predicted #hypertension influences breast #cancer risk in women of African ancestry.

No causal genetic relationship or shared loci were identified.

🔗 Read the full article: https://t.co/1sojpsU73D

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: #Genome-wide SNP analysis of Southeast Asian populations reveals clear genetic differentiation between indigenous groups and Malays, despite shared geography.

🔗 Read the full article: https://t.co/ahVmeDrUjd

[Human Genome Org @humangenomeorg]

Register now for Human Genome Meeting 2026, which will be held at the Zappeion Megaron, Athens, from April 21 to 24, 2026. Don't miss this final opportunity to secure your spot at our special discounted rate.
Visit https://t.co/bCfmcvteDp!

#HGM2026 #TheGoldenHelixFoundation

[Editor, Annals of Human Genetics @AHGEditor]

#RareDiseaseDay recently passed, but at Annals of Human Genetics, we’re proud of the research published. The work of our authors helps to shorten the diagnostic odyssey and advance new treatments.

Awareness and research change lives!
🔗: https://t.co/jjWE7rQfPl

[Editor, Annals of Human Genetics @AHGEditor]

#HGM2026 in Athens will focus on latest developments in human genomics.

#TheGoldenHelixFoundation

[Human Genome Org @humangenomeorg]

We are honored to welcome Prof. Karen Miga (UC Santa Cruz) as an invited speaker at #HGM2026. She will discuss recent breakthroughs in human genome assembly and centromere biology.
Visit https://t.co/bCfmcvteDp!

#TheGoldenHelixFoundation

[Editor, Annals of Human Genetics @AHGEditor]

This April join #HGM2026 in Athens to hear about breakthroughs in human genomics!

#TheGoldenHelixFoundation

[Human Genome Org @humangenomeorg]

We are pleased to include Prof. Alessio Squassina (University of Cagliari) as an invited speaker at #HGM2026. His talk will address pharmacogenomics and precision psychiatry.
Visit https://t.co/bCfmcvteDp!

#TheGoldenHelixFoundation

[Human Genome Org @humangenomeorg]

#HGM2026 welcomes Prof. Isidore Rigoutsos (Thomas Jefferson University) as an invited speaker. He will present on computational genomics, regulatory networks, and systems-level genome analysis.
Visit https://t.co/bCfmcvteDp!

#TheGoldenHelixFoundation

[Human Genome Org @humangenomeorg]

#HGM2026 welcomes Prof. Aime Lumaka (University of Kinshasa) as an invited speaker. He will discuss genomics research in African populations and its implications for global health and medicine.
Visit https://t.co/bCfmcvteDp!

#TheGoldenHelixFoundation

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: #Genetic analysis of Sherpa highlanders shows adaptive variants in EPAS1 and EGLN1 linked to reduced gene expression and a blunted EPO response under chronic #hypoxia. This offers insight into human high-altitude adaptation.

🔗: https://t.co/HmBMGaXc1P

[Editor, Annals of Human Genetics @AHGEditor]

Attend #HGM2026 in April in Athens to hear from leading voices in human genomics!

#TheGoldenHelixFoundation

[Human Genome Org @humangenomeorg]

We are delighted to announce Prof. Bassam R. Ali (United Arab Emirates University) as an invited speaker at #HGM2026. His talk will highlight advances in human genetic disorders and population genomics.
Visit https://t.co/bCfmcvteDp!

#TheGoldenHelixFoundation

[Editor, Annals of Human Genetics @AHGEditor]

Less than 80 days to the Human Genome Meeting!

#HGM2026 #TheGoldenHelixFoundation

[Human Genome Org @humangenomeorg]

We are delighted to feature Prof. Gabriela Repetto (Universidad del Desarrollo) as an invited speaker at #HGM2026. She will share insights on genomics-driven rare disease research and precision oncology strategies.
Visit https://t.co/bCfmcvteDp!

#TheGoldenHelixFoundation

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: Mitonuclear discordance has been proposed to impair #mitochondrial function in admixed populations.

In 2,301 Māori and Pacific peoples in Aotearoa New Zealand, higher discordance was associated with lower risk of #gout and #T2DM.

https://t.co/7MS5xqXeGk

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: Single-cell transcriptomics in #hepatocellular #carcinoma identifies a rare cancer stem-like cell population and Cancer Stem-like Cell Risk Score (CARS).

Higher CARS predicted poorer survival, drug resistance and drug sensitivity.

🔗: https://t.co/TbmGeCJxgJ

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: #Exome sequencing of three rare neurological disorders in three unrelated Pakistani families revealed novel pathogenic variants in ADGRG1, KAT8, and FAM126A, expanding the allelic and geographic spectrum of neurological disorders.

🔗:https://t.co/YpDvTSzFcp

[Editor, Annals of Human Genetics @AHGEditor]

Today is World Pancreatic Cancer Day🟪

Pancreatic cancer is the 6th deadliest globally, with a five-year survival rate under 10%.

We highlight work in The Annals using whole-genome sequencing to identify rare variants in familial pancreatic cancer:
https://t.co/LE4quatn07

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: Whole-exome sequencing of 44 men with #asthenoteratozoospermia identified CFAP74 variants as potential causes of male #infertility.

Novel CFAP74 mutations were linked to flagellar defects and disrupted sperm morphology.

🔗: https://t.co/YsilRoLys3

[Editor, Annals of Human Genetics @AHGEditor]

An Early View: A study of 133 children with suspected dyslipidemia in Türkiye used targeted NGS to explore the genetic basis of #pediatric lipid disorders.

Pathogenic variants were seen in 17% of cases, and novel variants found in LDLRAP1 and APOB.

🔗: https://t.co/qMEzD7rRUi