Disease genetics articles from across Nature Portfolio

Disease genetics, of human, animal and plant diseases, investigates the consequences of pathogenic (host) genetic variants as the major causes of heritable disorders (monogenic diseases) as well as the consequences of genome variation in the population to the variable predisposition of the individual to complex diseases with infectious or environmental causes.

Latest Research and Reviews

Research
06 June 2023 | Open Access

A novel HECW2 variant in an infant with congenital long QT syndrome
- Rina Imanishi
- , Kouichi Nakau
- & Satoru Takahashi
Human Genome Variation 10, 17
Research | 02 June 2023

Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10
- Eri Imagawa
- , Latisha Moreta
- & Kimihiko Oishi
Journal of Human Genetics, 1-6
Research
26 May 2023 | Open Access

A genomic data archive from the Network for Pancreatic Organ donors with Diabetes
- Daniel J. Perry
- , Melanie R. Shapiro
- & Todd M. Brusko
Scientific Data 10, 323
Research | 24 May 2023

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome
- Brian G. Ballios
- , Amarilla Mandola
- & Ajoy Vincent
Eye, 1-8
Research | 22 May 2023

Clinical and genetic features of cystic fibrosis in Japan
- Yuka Kozawa
- , Akiko Yamamoto
- & Hiroshi Ishiguro
Journal of Human Genetics, 1-10
Research
19 May 2023 | Open Access

Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom
- Julia Zöllner
- , Sarah Finer
- & Peter H. Dixon
Scientific Reports 13, 8120

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News and Comment

Comments & Opinion
21 April 2023 | Open Access

Human molecular genetics sheds light on the physiological significance of ribonuclease inhibitor (RNH1)
- Mayuresh Anant Sarangdhar
- , Nicola Andina
- & Ramanjaneyulu Allam
European Journal of Human Genetics, 1-3
Research Highlights | 14 April 2023

To the rescue by blocking cryptic splicing

A new study in Science reports the mechanism through which TDP-43 enables correct processing of STMN2 mRNA, and proposes strategies to restore neuronal Stathmin-2 synthesis in TDP-43 proteinopathies.
- Linda Koch
Nature Reviews Genetics 24, 346
Research Highlights | 05 April 2023

Increased degradation of desmosomal proteins in ACM

Desmosomal protein degradation that occurs via a mechanism involving the ubiquitin–proteasome system might underlie the development of arrhythmogenic cardiomyopathy.
- Karina Huynh
Nature Reviews Cardiology 20, 371
Research Highlights | 24 March 2023

Corrupted USB1 fails to process microRNAs required for blood development

A new study in Science identifies a role for USB1 in deadenylating microRNAs to regulate blood development.
- Michael Attwaters
Nature Reviews Genetics 24, 272
Research Highlights | 27 February 2023

Genome editing prevents hypertrophic cardiomyopathy in mice

Adenine base editing can be used to correct a genetic variant in preclinical models of hypertrophic cardiomyopathy, and this approach could be applied to other monogenic cardiac diseases.
- Gregory B. Lim
Nature Reviews Cardiology 20, 211
News & Views | 15 February 2023

Identification of pathogenic DNA variants in premature ovarian insufficiency

The largest whole-exome sequencing study of individuals with premature ovarian insufficiency (POI) so far identifies 20 new disease-associated genes, yields an overall genetic contribution to POI of 23.5%, and provides detailed characterization of the genetic landscape of this disorder.

Nature Medicine 29, 315-316