The Fetal Fentanyl Syndrome: Additional evidence in support of a new human teratogen
Genet Med. 2026 Aug 25:102698. doi: 10.1016/j.gim.2026.102698. Online ahead of print. ABSTRACT PURPOSE: Prenatal opioid exposure has inconsistently been associated with congenital anomalies. In 2023, fentanyl was proposed as a human teratogen in ten infants with documented exposure and a consistent pattern of abnormalities. Disrupted cholesterol biosynthesis was proposed as the pathogenetic mechanism. METHODS: We […]
Honeybadger, a micropeptide encoded by an alternative PVT1 transcript, is a critical negative regulator of RAS-MAPK signaling in MYC-driven tumors
Genes Dev. 2026 Aug 19. doi: 10.1101/gad.353356.125. Online ahead of print. ABSTRACT Genomic rearrangements can drive cancer through mechanisms that extend beyond classical oncogenic fusions such as BCR-ABL A substantial fraction of these events involve long noncoding RNAs (lncRNAs), yet their functional impact on tumorigenesis has remained largely opaque. The lncRNA plasmacytoma variant translocation 1 […]
Firefox, a protein encoded by circular PVT1, is essential for MYC-driven oncogenesis
Genes Dev. 2026 Aug 19. doi: 10.1101/gad.353355.125. Online ahead of print. ABSTRACT MYC-driven (MYC+) cancers are highly aggressive and often fatal. MYC dysregulation is a key event in these cancers, yet MYC overexpression alone is often insufficient to initiate or sustain tumorigenesis. Plasmocytoma variant translocation 1 (PVT1), a long noncoding RNA (lncRNA) adjacent to MYC […]
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 […]