Gene of the Month

De novo variants in the KDM2A gene cause a syndromic neurodevelopmental disorder. Researchers identified disease-causing missense variants and…

Bi-allelic variants in the PRMT9 gene that abolish the function of the encoded protein give rise to a neurodevelopmental disorder with autosomal…

A study recently published in Science systematically maps the functional impact of nearly all approximately 17,000 possible missense variants in the…

A gene therapy based on CRISPR activation (CRISPRa) shows promise for treating SCN2A-related disorders, which may be associated by epilepsy and other…

TGDS acts as a “rescue molecule” in sugar metabolism—a previously unknown physiological function of the enzyme deoxy-TDP-D-glucose 4,6-dehydratase…

APOE is not only a well-known risk gene for Alzheimer’s disease, but primarily an important regulator of the immune system—according to a study…

The ATM serine/threonine protein kinase, encoded by the ATM gene, plays a crucial role in regulating the cell’s mechanisms to repair DNA damage, and…

Researchers have developed a pioneering, specific, personalized gene therapy for a newborn with a rare and life-threatening urea cycle metabolism…

SLC7A11 enables a slow proton efflux from lysosomes and thus plays a vital role in maintaining the acidic environment inside these cellular…

Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the MED16 gene.…

Silencing the PCSK9 gene through epigenetic editing may be a novel and promising future strategy to treat hypercholesterolemia. In a study published…

The pivotal role of the oncostatin M (OSM) protein in hematopoiesis in humans is underscored by a recent study published in the Journal of Clinical…

Researchers have identified IL-23R as an aging and cellular senescence biomarker and a potential target for future strategies to counteract…

A central, previously unknown role of the PNUTS complex in gene transcription depending on RNA polymerase II has been uncovered. According to a study…

Errors introduced by DNA polymerase ε (POLE) during DNA replication contribute significantly to the occurrence of C-to-T mutations at methylated CpG…

Centromeric protein A, known as CENPA, interacts with epigenetically altered centromeric RNA, thereby facilitating the division of cancer cells. This…

DNA methyltransferase DAMT-1 catalyzes in C. elegans a specific form of epigenetic mark, adenosine N6-methylation (6mA), on mitochondrial DNA (mtDNA).…

Using the method of saturation genome editing (SGE), researchers have assessed the functional impact of 99% of all possible single nucleotide variants…

Researchers pharmacologically reactivated transcription of the TERT gene and produced a rejuvenating effect in multiple tissues in mice. In a study…

A CRISPR/Cas9-based approach to treat CEP290-associated inherited retinal degeneration has for the first time produced positive results in a phase 1/2…

A novel gene therapy approach using antisense oligonucleotides to modulate the production of specific isoforms of CACNA1C might provide a new strategy…

A gene therapy approach involving transfer of the GAN gene into nerve cells is presently being investigated as a potential option for addressing a…

KDM5C plays a pivotal role in the complex process of neuron formation. A study published in Nature now shows that KDM5C acts in a specific…

A postzygotic variant in FGFR2 has been identified as the cause of a mosaic neurocutaneous disorder. Researchers at the Institute of Human Genetics…

Identification of biallelic variants in the CCR2 gene and subsequent functional investigations revealed a previously undescribed mechanism leading to…

Based on the identification of pathogenic de novo missense variants of U2AF2 in patients with neurodevelopmental disorders (NDDs), an international…

Using a novel filtering approach in the analysis of whole-genome sequencing data, researchers identified ultra-rare disease-associated variants in the…

Somatic mutations in SLC30A1 cause disruptions in cellular zinc homeostasis leading to primary aldosteronism. This is reported by the authors of a…

Homozygous truncating variants in AXIN1 underlie a previously undescribed specific skeletal disorder with a pathological increase in bone tissue and…

RHINO, the protein encoded by the RHNO1 gene, has a previously unknown function in repairing DNA damage. A study recently published in Science…

Biallelic missense variants found in the ERI1 gene result in disrupted ribosome biogenesis, causing a specific and previously unreported type of bone…

A potential approach to correct the FMR1 gene defect underlying fragile X syndrome (FXS) relies on the body’s own DNA repair mechanisms. This is…

Heterozygous variants in POLR1A resulting in a reduced protein function underlie a more variable phenotype than previously known. A study published in…

The role of DYRK1A might be a starting point for developing a molecular strategy to pharmacologically influence genomic instability. DYRK1A encodes…

Specific heterozygous variants in HMGB1 cause an extremely rare congenital disorder, called BPTAS, which is characterized mainly by limb malformations…

A deep intronic GAA repeat expansion in the gene FGF14 causes a form of cerebellar ataxia manifesting in adulthood. In a study published in the New…

Dominantly or recessively inherited variants in COL7A1 cause dystrophic epidermolysis bullosa (DEB), a devastating skin disorder. A gene therapy…

Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism. This has been reported in a study published…

A heterozygous variant in ATP5F1B has been identified as causing a mitochondrial disease with failure to thrive despite excessive caloric intake. The…

A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder.…

Inactivation of the BCL11A gene by CRISPR/Cas9 genome editing may be a therapeutic option to cure the most severe type of β thalassemia. An ongoing…

Biallelic variants in WARS1 underlying autosomal recessive neurodevelopmental disorders have been reported in two recently published international…

Loss-of-function variants in SLC47A1 play a causal role in the development of kidney disease. This is one of the results generated by an extensive…

Variants in the RRM1 gene may underlie a disorder that is caused by defective processes of mitochondrial DNA (mtDNA) replication and repair. The…

New insights into how the telomere shelterin protein TPP1, encoded by the ACD gene, interacts with telomerase have recently been published in Nature.…

A study published in Cell suggests that abnormal aggregation of the protein encoded by the TMEM106B gene might be a shared feature in the development…

Myc-associated zinc-finger protein, encoded by the MAZ gene, has been identified as a new factor impacting on gene regulation and three-dimensional…

Autosomal recessive variants in TRAPPC9 have for the first time been linked to a congenital glycosylation defect. Researchers identified biallelic…

CIROP is a newly discovered gene which has an essential function in developing and distinguishing left and right in the human body. It is one of five…

A gene variant in LZTFL1 is probably responsible for a twofold increased risk of dying of COVID-19. This has been found by British scientists at the…

Variants in the gene ONECUT1 cause both, dominant and recessive forms of monogenic diabetes mellitus and are also involved in the development of…

Aminoacyl-tRNA synthetases play a crucial role in protein synthesis. They are responsible for loading specific amino acids on transfer RNAs (tRNAs),…

Permanent and efficient inactivation of the TTR gene by genome editing is the aim of a novel therapeutic approach currently being investigated for the…

PCDHGC4 is the first member of the protein family of clustered protocadherins that has been linked to a congenital human disorder. An international…

Autosomal dominant and recessive variants of the CLCN3 gene cause neurodevelopmental disease. Scientists of an international research collaboration…

Chromodomain-helicase-DNA-binding protein 6, encoded by the CHD6 gene, is a so-called chromatin remodeller. These proteins modify the chromatin…

Using a machine learning model, researchers have shown in a recent study that, depending on the position of mutations, variants of the SRCAP gene do…

Mutations in the SYK gene are responsible for a newly described phenotype with severe immunodeficiency, multi-organ inflammatory disease involving the…

Dysregulated expression of the gene EN1, or engrailed-1, due to a remarkable genetic mechanism, leads to a rare congenital disorder with severe limb…

Editing of the BCL11A gene by CRISPR/Cas9 might be a future gene therapy approach to treat sickle cell disease and beta thalassemia. This is suggested…