Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy
Nat Med. 2026 Jul 21. doi: 10.1038/s41591-026-04527-y. Online ahead of print. ABSTRACT SCN2A variants are among the most common genetic causes of developmental and epileptic encephalopathies (DEEs), which can present with uncontrolled seizures at birth and account for 1-2% of all epileptic encephalopathies. A substantial fraction of causal variants are gain-of-function or mixed-function variants associated […]
Follow-up and outcome of patients with primary BH4 deficiencies
Front Neurol. 2026 Jul 16;17:1793300. doi: 10.3389/fneur.2026.1793300. eCollection 2026. ABSTRACT BH4 deficiencies may occur with or without hyperphenylalaninemia (HPA). If identified early through neonatal screening for PKU, the clinical follow-up aims to prevent the onset of typical disease symptoms. In contrast, for the conditions not associated with HPA, diagnosis usually occurs once symptoms manifest, and […]
Novel Therapeutic Treatments in Perinatal Genetics Bridging Prenatal and Postnatal Care of Genetic Conditions
Clin Ther. 2026 Jun 9:S0149-2918(26)00188-8. doi: 10.1016/j.clinthera.2026.05.025. Online ahead of print. NO ABSTRACT PMID:42264972 | DOI:10.1016/j.clinthera.2026.05.025
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
Nat Commun. 2026 May 30. doi: 10.1038/s41467-026-73455-9. Online ahead of print. ABSTRACT Primary mitochondrial diseases (PMDs) affect approximately 1 in 4300 individuals and cause early-onset neuromuscular and multisystem dysfunction with reduced lifespan. They result from pathogenic variants in mitochondrial or nuclear DNA that impair oxidative phosphorylation. Cytochrome c oxidase (COX; complex IV) deficiency is a […]
Preservation and clonal behavior of extrachromosomal DNA in patient-derived xenograft models of childhood cancers
Genome Med. 2026 May 28. doi: 10.1186/s13073-026-01676-0. Online ahead of print. ABSTRACT BACKGROUND: Extrachromosomal DNA (ecDNA) is a structural variant linked to poor prognosis in pediatric cancers. Patient-derived xenograft (PDX) models are crucial tools for cancer research, as they are believed to recapitulate the molecular features and intratumoral heterogeneity in patient tumors. However, ecDNA demonstrates […]
The Fastest Nicu Genome is One Completed (or at Least Coordinated) Prenatally: A Joint Perspective From United States-Based Maternal-Fetal Medicine and Neonatologist-Geneticists
Clin Ther. 2026 May 28:S0149-2918(26)00184-0. doi: 10.1016/j.clinthera.2026.05.020. Online ahead of print. ABSTRACT Genomic sequencing (GS) in the neonatal period has advanced over the past several years. Results are available within days in many centers and cost-effectiveness and utility data continue to accumulate. Though less prevalent in clinical practice, prenatal GS is also demonstrating increasing evidence […]
Essential genetic testing in movement disorders – results from a Delphi study
Parkinsonism Relat Disord. 2026 May 22;148:108367. doi: 10.1016/j.parkreldis.2026.108367. Online ahead of print. ABSTRACT BACKGROUND: While genetic testing in Movement Disorders (MD) has expanded enormously, access to genetic testing and genetic counseling remains asymmetric at the global scale. Guidance on efficient testing strategies for clinicians, governments and stakeholders is crucial. OBJECTIVES: Establish a list of genetic […]
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies
Orphanet J Rare Dis. 2026 May 21. doi: 10.1186/s13023-026-04388-1. Online ahead of print. ABSTRACT Individualized medicine has the potential to be a transformative approach to healthcare that tailors medical treatments to the unique makeup of each patient. This report explores the potential of individualized genetic medicines to meet the pressing need for effective treatments for […]
Addressing the needs of nano-rare patients: the n-Lorem experience
Nucleic Acids Res. 2026 May 20;54(10):gkag504. doi: 10.1093/nar/gkag504. ABSTRACT Patients with extremely rare pathogenic variants pose unique challenges to current healthcare systems. Nano-rare mutations have been defined as mutations with a known prevalence of <30 patients worldwide, but because of the small fraction of humans who have undergone genetic testing, neither the precise prevalence of […]
Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism
Cell Genom. 2026 Mar 9:101186. doi: 10.1016/j.xgen.2026.101186. Online ahead of print. ABSTRACT Long-read whole-genome sequencing (LR-WGS) technologies enhance the discovery of structural variants (SVs) and tandem repeats (TRs). We performed LR-WGS on 267 individuals from 63 autism spectrum disorder (ASD) families and generated an integrated call set combining long- and short-read data. LR-WGS increased detection […]