El Blog de SEBIGEC
Noticias y artículos de bioquímica y genética humana
Noticias
- Could a gene lower nicotine dependence? What a CHRNB3 variant suggestspor Clinical genetics
- FDA proposes new system for approving customized drugs and therapies for rare diseasespor Clinical genetics
- Study reveals why some immune disorders trigger severe food allergies, and others don’tpor Clinical genetics
- Rare genetic variant protects against malaria-causing parasite by making red blood cells biggerpor Clinical genetics
- Engineers sharpen gene-editing tools to target cystic fibrosispor Clinical genetics
- Genetics helps explain who gets the ‘telltale tingle’ from music, art and literaturepor Clinical genetics
- New targeted base-editing tool corrects genetic brain disorder in micepor Clinical genetics
- Study reveals a specific genetic mismatch linked to life-threatening transplant complicationspor Clinical genetics
- Down syndrome study sheds new light on early brain developmentpor Clinical genetics
- Toxic exposure creates disease risk over 20 generations, epigenetic inheritance study suggestspor Clinical genetics
- Gene variants help explain why food allergies run in familiespor Clinical genetics
- Telehealth genetic services increase uptake of counseling in childhood cancer survivorspor Clinical genetics
- AI tool debuts with better genomic predictions and explanationspor Clinical genetics
- Researchers drill down on genetic profiles to guide treatment for leukemia patientspor Clinical genetics
- New method estimates Epstein-Barr virus in blood using standard genome sequencing datapor Clinical genetics
- Household cat could hold the key to understanding breast cancerpor Clinical genetics
Artículos
- Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case reportpor Jong Sun ParkIntroductionGastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare autosomal dominant familial gastric cancer syndrome. GAPPS is caused by pathogenic variant in the regulatory region of APC. This study describes the first Korean…
- Phenotypic description of a large French series of individuals with Potocki-Lupski syndromepor Ramakrishnan SitaramanBackgroundPotocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion of this same region is responsibl…
- Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support toolspor Justin T. ReeseEuropean Journal of Human Genetics, Published online: 24 February 2026; doi:10.1038/s41431-026-02054-5Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decis…
- Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ studypor Erin TuttyEuropean Journal of Human Genetics, Published online: 24 February 2026; doi:10.1038/s41431-026-02036-7Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
- Genetic Bases of Arthrogryposis Multiplex Congenitapor Judith MelkiArthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures in two or more body areas resulting from reduced or absent fetal movements. AMC exhibits marked phenotypic and genetic heterogeneity, as it is a symptom rather t…
- A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programspor Embedzayi MadhiriEuropean Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02047-4A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programs
- “It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health educationpor Jennifer HansenEuropean Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02041-w“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health educatio…
- Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and carepor Richarda M. de VoerEuropean Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02046-5Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
- Flexible and rapid validation of structural variation using adaptive samplingpor Aida PaivandyEuropean Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02039-4Flexible and rapid validation of structural variation using adaptive sampling
- Table of Contentspor The Journal of Molecular Diagnostics
- Editorial Boardpor The Journal of Molecular Diagnostics
- Personal utility of genomic results: Application and validation of the PrU scale to the Australian contextpor Erin TurbittEuropean Journal of Human Genetics, Published online: 21 February 2026; doi:10.1038/s41431-026-02052-7Personal utility of genomic results: Application and validation of the PrU scale to the Australian context
- Ongoing refinements in chronological frameworks describing the presence of Indo-European/Indic languages in the Indian subcontinentpor Ramakrishnan SitaramanEuropean Journal of Human Genetics, Published online: 20 February 2026; doi:10.1038/s41431-026-02056-3Ongoing refinements in chronological frameworks describing the presence of Indo-European/Indic languages in the Indian subcontinent
- Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature reviewpor Xiaoyang YuanBackgroundHereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a progressive multisystem disorder caused by pathogenic TTR variants. Aim of this study is to delineate the clinical and genetic feature of ATTRv-PN in China and to evalua…
- <i>TMC6/8</i>-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndromepor Ceren Damla DurmazEuropean Journal of Human Genetics, Published online: 18 February 2026; doi:10.1038/s41431-026-02043-8TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposit…
- An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney diseasepor Sophia HeneghanEuropean Journal of Human Genetics, Published online: 18 February 2026; doi:10.1038/s41431-026-02027-8An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease
- Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic familiespor Kord, D., Siu, V. M.The DMD gene, the largest gene in the human genome, is particularly prone to exonic deletions or duplications due to recombination events during gametogenesis, with frameshift deletions typically seen in Duchenne muscular dystrophy (DMD) and in-frame d…
- High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreanspor Jaeryuk Kim, Gu-Hwan Kim, Soojin Hwang, Beom Hee Lee, Eul-Ju SeoNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with extensive allelic heterogeneity. Although RNA-based assays can increase sensitivity, their cost and complexity limit their routine use. A DNA-only tiered diagnostic approach wa…
- Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infectionspor Jing ChenBackgroundHeterozygous variants in the ZEB2 gene are known to cause Mowat–Wilson syndrome (MWS). The classical clinical spectrum of MWS includes characteristic facial features, intellectual disability, epilepsy, Hirschsprung disease (HSCR), and various…
- A homozygote mutation in <i>RPA2</i> associated with bone marrow failure, immunodeficiency, and telomere biology disorderpor Amos J. SimonEuropean Journal of Human Genetics, Published online: 17 February 2026; doi:10.1038/s41431-026-02035-8A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder
- End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromespor Ramakrishnan SitaramanMosaicism refers to the presence of multiple cell clones with distinct genotypes arising from a single zygote. The phenotype of mosaic individuals depends on the extent of mosaicism, ranging from localised to almost generalised. We report three diagnos…
- Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variantspor Ramakrishnan SitaramanMulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 (TRIM37) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive heart disease and predisposition to tumours. TRIM37 has…
- Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service modelspor Ouerdia HarounEuropean Journal of Human Genetics, Published online: 16 February 2026; doi:10.1038/s41431-026-02031-yGenetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service mo…
- Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomaliespor Graham, S. A., McCabe, A., Harrison, V., Castleman, J., Doyle, S., Allen, S.BackgroundMonogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal dominant disease genes have been detected across multiple st…
- Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation studypor Ramakrishnan SitaramanBackgroundThe average age of natural menopause (ANM) for European women is 50–52 years. Reproductive risk and lifestyle factors have been found to be associated with ANM. Furthermore, a genome-wide association study found that women with a CHEK2 …
- Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi studypor J. Matt McCraryEuropean Journal of Human Genetics, Published online: 13 February 2026; doi:10.1038/s41431-026-02015-yPriority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study
- Impact of a digital platform on genetic counselling encounters in the screening contextpor Chloe MightonEuropean Journal of Human Genetics, Published online: 13 February 2026; doi:10.1038/s41431-026-02029-6Impact of a digital platform on genetic counselling encounters in the screening context
- Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population contextpor Sarah L. MaleckiBackgroundChildren with complex genetic diseases increasingly survive to adulthood, but adult health is poorly understood. Using a genetics-first approach we investigated the incidence and accrual of cardiovascular and other outcomes in people with mol…
- Delineating the Genetic Basis of <i>RNF213</i>-related vasculopathies: The association of <i>PKHD1</i> variants with bilateral cerebral vasculopathypor Daiichiro IshigamiEuropean Journal of Human Genetics, Published online: 12 February 2026; doi:10.1038/s41431-026-02030-zDelineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy
- Genetic polymorphisms of the CDC27 gene are associated with susceptibility and outcomes of non-syndromic congenital heart disease: a bi-ethnic case–control study in Chinese populationspor Teng YuanBackgroundCell division cycle 27 (CDC27) gene expression is closely associated with the cell cycle and has been implicated in the pathogenesis of congenital heart disease (CHD) in animal models. This study focuses on investigating whether single-nucleo…
- CORRECTIONpor The Journal of Molecular DiagnosticsIn the article entitled, “Enhanced Detection of Splice-Altering Variants in Hematologic Malignancies Using Targeted RNA-Sequencing Data” (Volume 28, pages 39–52 of the January 2026 issue of The Journal of Molecular Diagnostics; https://doi.org/10.1016/…
- Long-read whole-transcriptome sequencing and selective gene panel profiling enable sensitive detection of fusion oncogenes in pediatric B-cell acute lymphoblastic leukemiapor Ramakrishnan SitaramanLong-read whole-transcriptome sequencing (WTS) has the potential to precisely characterize fusion oncogenes that drive leukemia and other cancers. While there are a variety of general-purpose fusion detection algorithms that use modern long-read sequen…
- Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experiencepor Supari, N., Baker, D., Keigwin, S., Delaney, S., Makino, S., Balasubramanian, M.BackgroundThe availability of large volumes of data from genetic testing has enabled the interpretation of more DNA variants, contributing to a greater number of identified variants of uncertain significance (VUS). The growing number of VUS causes a bu…
- Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participantspor Futema, M., Bird, M., Haeger, A., Pinder, E., ORourke, A., Behr, E. R., Humphries, S. E.BackgroundHeterozygous Familial Hypercholesterolaemia (HeFH) is caused by pathogenic variants in LDLR, APOB, APOE or PCSK9, leading to elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In the UK, HeFH affects ~1 in 288 ind…
- Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDTpor Yongfen LyuBackgroundPathogenic variants in the trafficking protein particle complex subunit 2 (TRAPPC2) gene are known to cause X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT), a rare hereditary cause of childhood short stature. Genetic diagnosis is …
- Correction: BAG3-related myofibrillar myopathy: focus on its cardiac involvementpor Elise Daire
- Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanderspor Ramakrishnan SitaramanAnnals of Human Genetics, EarlyView.
- Public and parent perspectives on genomic sequencing in newborn screening: a scoping reviewpor Saskia G. SmitsEuropean Journal of Human Genetics, Published online: 06 February 2026; doi:10.1038/s41431-026-02024-xPublic and parent perspectives on genomic sequencing in newborn screening: a scoping review
- Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfectapor Hongjuan NieBackgroundOsteogenesis imperfecta (OI) is a hereditary disorder primarily caused by mutations in COL1A1 or COL1A2, leading to bone fragility and deformities. Although numerous pathogenic variants have been identified, novel mutations in specific popula…
- Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research Programpor Ramakrishnan SitaramanThis investigation demonstrates the validity and high predictive ability of a prostate cancer polygenic risk score (PRS) across populations in the All of Us Research Program. It further demonstrates that PRS performance varies by certain demographic-, …
- Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liverpor Ramakrishnan SitaramanWe performed chromatin accessibility quantitative trait locus (caQTL) mapping in 175 healthy human liver samples and identified 14,076 caQTLs. These data, along with other regulatory mechanism datasets, were integrated with liver-relevant genome-wide a…
- Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenuespor Adriaan van der Graaf, Sadegh Rizi, Chiara Auwerx, Zoltán KutalikMendelian randomization (MR) is widely used to identify causality between human traits; however, it suffers from high error rates. Van der Graaf et al. benchmark MR using human metabolic networks to understand MR’s failure modes. Extensive biological f…
- This month in The Journalpor Paul W. Hook, Alyson B. BarnesThe current biotechnology industry is characterized by intense competition. Although this competition can drive innovation and increased investment, too much competition can prevent collaboration and potentially foster a culture in which data and metho…
- Health care impact of comprehensive genomic profiling of solid tumors in patient management using POWER (Precision Oncology at Western University)por Ramakrishnan SitaramanMolecular profiling of solid tumors is increasingly essential in oncology practice, guiding diagnosis-prognosis and providing patients with access to molecularly matched therapies that can improve outcomes. In this study, we evaluated 554 patients with…
- POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature reviewpor Mengyao ZhouBackgroundPOLR3A gene-related syndrome is a complex genetic disorder with diverse clinical manifestations. Understanding its characteristics is crucial for diagnosis and management. Previous studies have reported various aspects of this syndrome, yet a…
- Navigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch userspor Danny BruinsEuropean Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02022-zNavigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users
- Two siblings with <i>CCDC32</i>-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literaturepor Fatimah AlbuainainEuropean Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02023-yTwo siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
- The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patientspor Madeline GornyEuropean Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02025-wThe potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
- Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgarispor Brittany L. MitchellEuropean Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02028-7Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
- Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorderspor Rachel Kirchner, Miguel Pereira, Madilynn Peterson, Mark E. Berres, Jane E. ChurpekAcquired TERT promoter (TERTp) variants are found in the blood of patients with telomere biology disorders (TBDs) and carry diagnostic and prognostic significance. Detection of these variants is challenging due to low variant allele frequencies (VAFs) …
- Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese populationpor Kam ChanObjectiveRare subtypes of congenital adrenal hyperplasia (CAH) often present with heterogeneous and overlapping clinical features, leading to substantial diagnostic delays and misclassification. This study aimed to characterize the clinical, biochemica…
- Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilitiespor Silvia GuerreraIntroductionComprehensive care for autistic youth with severe symptoms and language impairment includes genetic testing to find underlying causes. Identifying a genetic diagnosis helps determine prognosis, guide treatment, assess recurrence risk, and c…
- Issue Informationpor Wiley: Annals of Human Genetics: Table of ContentsAnnals of Human Genetics, Volume 90, Issue 2, March 2026.
- Mitonuclear Discordance and Gout, Type 2 Diabetes and Chronic Kidney Disease in Aotearoa New Zealand Indigenous Māori and Pacific Peoplepor Ramakrishnan SitaramanAnnals of Human Genetics, EarlyView.
- Advisory Board and Contentspor Trends in Genetics
- Subscription and Copyright Informationpor Trends in Genetics
- Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variantpor Jie ZhouBackgroundVanishing white matter disease (VWMD; OMIM 603896), also known as childhood ataxia with central nervous system hypomyelination (CACH), is a rare autosomal recessive leukodystrophy caused by pathogenic variants in the EIF2B gene family (EIF2B1…
- Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertensionpor Ramakrishnan SitaramanBackgroundMECOM encodes a developmental and haematopoietic transcription factor associated with a rare early-onset syndrome including bone marrow failure, skeletal and other congenital anomalies. Heterozygous de novo variants are the primary cause. We …
- Advancing genomic medicine: Guidelines, risk scores, and disease discoverypor Alisdair McNeillEuropean Journal of Human Genetics, Published online: 30 January 2026; doi:10.1038/s41431-026-02021-0Advancing genomic medicine: Guidelines, risk scores, and disease discovery
- Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarcinomapor Bruno BuecherEuropean Journal of Human Genetics, Published online: 29 January 2026; doi:10.1038/s41431-026-02020-1Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarci…