El Blog de EERR.es
Noticias y artículos de bioquímica y genética humana
Noticias
- This unusual epigenetic modifier promotes certain cancers but suppresses otherspor Clinical genetics
- Links between genetics and cognition change across childhoodpor Clinical genetics
- Genetic mapping identifies new hope for bone diseasespor Clinical genetics
- Autism research finds Phelan-McDermid syndrome may affect 1 in 7,300 people: More common than previously thoughtpor Clinical genetics
- Genome editing in rats enables more accurate estrogen receptor-positive breast cancer modelspor Clinical genetics
- Researchers discover new form of hereditary prostate cancerpor Clinical genetics
- Genetic study links IBS to lipid metabolism and triglyceride regulationpor Clinical genetics
- New approach to gene correction for iron storage diseasepor Clinical genetics
- Liver-directed gene therapy shows preclinical efficacy for severe inherited metabolic disorderpor Clinical genetics
- Genetic insights into a fluid-related brain condition in newbornspor Clinical genetics
- A long‑standing mystery in the deadliest breast cancer just yielded 81 new treatment targetspor Clinical genetics
- New platform combines precision gene targeting with brain-wide deliverypor Clinical genetics
- Why does Parkinson’s disease affect more men than women?por Clinical genetics
- Researchers chart a genetic path to diagnosing pulmonary fibrosis and predicting outcomespor Clinical genetics
- Gene clues reveal why some rare leukemia patients resist tagraxofusp therapypor Clinical genetics
- New heart disease mechanism revealed: Next-generation targeted therapy shows benefit across mutation typespor Clinical genetics
Artículos
- Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants.A custom Genexus myeloid assay (CMA) underwent a technical evaluation for detection of variants from both DNA and RNA in a single assay format. The custom assay was initially verified with commercial DNA and RNA controls containing known myeloid varian…
- The globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencingpor Himanshu GoelEuropean Journal of Human Genetics, Published online: 10 July 2026; doi:10.1038/s41431-026-02184-wThe globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
- This unusual epigenetic modifier promotes certain cancers but suppresses otherspor Clinical geneticsThe epigenetic modifier MLL4 has an unassuming name—the 4, for instance, indicates it’s just one in a family of such modifiers. But MLL4 is quite special: In a specific type of leukemia, it drives disease progression, while in solid tumors, it acts as …
- Total glucosides of Paeony alleviates chronic endometritis in rats through regulating gut microbiota composition and inhibiting TLR4/NF-κB/NLRP3 pathwaypor Latest ResultsObjective Methods Results Conclusion …
- Links between genetics and cognition change across childhoodpor Clinical geneticsRare DNA changes are most strongly linked to cognition in early childhood, but the link fades as children age, while common DNA changes show stronger links later in childhood, a new study finds. The research was reported July 10 in Nature Human Behavio…
- Genetic mapping identifies new hope for bone diseasespor Clinical geneticsIn a global breakthrough published in Nature Genetics, researchers have successfully mapped the cells and genes that regulate bone formation and loss at an unprecedented scale and discovered the critical role that blood vessel cells play in bone health.
- Autism research finds Phelan-McDermid syndrome may affect 1 in 7,300 people: More common than previously thoughtpor Clinical geneticsNew research, led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai and published in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects approximately 1 in 7,300 people, making it far more comm…
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature reviewpor Youhong LuoObjectiveTo report a rare case of concurrent Gitelman syndrome (GS) and Turner syndrome (TS) and explore their interplay in driving a complex clinical phenotype.DesignA single-case report with literature review.MethodsA 34-year-old woman was evaluated …
- Beyond CCR5 and HLA: rare genetic variants in HIV acquisition and disease progressionpor Marion AmujalThe CCR5 locus and the HLA class I region, first identified through candidate gene studies, remain the most well-characterized host genetic factors associated with HIV acquisition and disease progression, respectively. To date, genome wide association …
- Genome editing in rats enables more accurate estrogen receptor-positive breast cancer modelspor Clinical geneticsRat disease models have played an integral role in scientific discovery and cancer research, including Nobel Prize–winning work from Charles Huggins on hormone therapy for prostate cancer in 1966. However, technical challenges in genetic engineering of…
- Researchers discover new form of hereditary prostate cancerpor Clinical geneticsResearchers at the University of British Columbia have identified a new form of hereditary prostate cancer that, while rare, can cause aggressive disease at a young age. The discovery paves the way for genetic testing programs that could help identify …
- Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa studypor Nadja LouwEuropean Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02179-7Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DD…
- Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statementpor Jack F. G. UnderwoodEuropean Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02178-8Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement
- Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessmentpor Latest ResultsBackground Main body Conclusion
- The new article is now available. Intractable & Rare Diseases Research[ Advance Publication ] [ Title ] Mitochondrial DNA A3243G variant-associated MELAS: Recent advances in clinical trials, therapeutic interventions, and disease-modifying strategies [ Author ] Kuan-Yu Chu [ Advance Pub. date ] 2026-07-10 [ DOI ] https:…
- Genetic study links IBS to lipid metabolism and triglyceride regulationpor Clinical geneticsIrritable bowel syndrome (IBS) is a common condition that affects more than 10% of the general population, causing recurrent abdominal pain, bloating, constipation and diarrhea. IBS is considered a disorder of gut-brain interaction, and previous resear…
- Genetic landscape of phenylketonuria in Brazilpor Latest Results
- Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfasepor Latest ResultsBackground Results Conclusions Registration …
- Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorderspor Naeem AhmadEuropean Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02182-yWhole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental dis…
- Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost projectpor Ayca YigitEuropean Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02177-9Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project
- New approach to gene correction for iron storage diseasepor Clinical geneticsHereditary primary hemochromatosis is caused by a single faulty building block in a gene. This leads to iron overload, which can have serious consequences for organs and joints. In preclinical studies, researchers have already successfully treated this…
- Liver-directed gene therapy shows preclinical efficacy for severe inherited metabolic disorderpor Clinical geneticsGenespire, in collaboration with researchers at the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), announced the publication of preclinical data supporting the potential of its liver-directed immune-shielded lentiviral gene therapy approa…
- Drawing lines: how the public defines “Serious” genetic conditions for reproductive testingpor Shizuko TakahashiEuropean Journal of Human Genetics, Published online: 08 July 2026; doi:10.1038/s41431-026-02170-2Drawing lines: how the public defines “Serious” genetic conditions for reproductive testing
- Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature reviewpor Céline JostEuropean Journal of Human Genetics, Published online: 08 July 2026; doi:10.1038/s41431-026-02153-3Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review
- Genetic insights into a fluid-related brain condition in newbornspor Clinical geneticsEarly detection and treatment of congenital cerebral ventriculomegaly (CCV)—when a fetus’s fluid-filled brain ventricles swell due to a condition called hydrocephalus—can help clinicians prevent developmental or neurological disabilities in affected in…
- A long‑standing mystery in the deadliest breast cancer just yielded 81 new treatment targetspor Clinical geneticsResearchers have solved a long-standing mystery of how abnormal chromosomes drive cancer, identifying 81 new genes involved in aggressive breast cancer. The discovery expands understanding of the cellular processes behind the disease and opens new aven…
- New platform combines precision gene targeting with brain-wide deliverypor Clinical geneticsA new study describes a gene therapy strategy that uses the brain’s own glymphatic transport system to distribute engineered viral vectors throughout the brain. The approach addresses two major challenges in neurological medicine—reaching therapeutic t…
- Biallelic RSPH4A loss-of-function variants cause primary ciliary dyskinesia in a Chinese patientpor Yu-Ting LuBackgroundPrimary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by defective motile cilia function, affecting approximately one in 7,500 to one in 10,000 live births. Pathogenic variants in radial spoke head genes, inclu…
- Correction: Genetic determinants of age-related macular degeneration in Middle Eastern populations: a systematic reviewpor Naif S. Sannan
- Why does Parkinson’s disease affect more men than women?por Clinical geneticsNew research presented at the Federation of European Neuroscience Societies (FENS) Forum 2026 has discovered some of the genetic changes in brain cells that may help explain why more men than women develop Parkinson’s disease.
- Researchers chart a genetic path to diagnosing pulmonary fibrosis and predicting outcomespor Clinical geneticsResearchers have validated a genetic scoring tool that may help physicians diagnose idiopathic pulmonary fibrosis and identify which patients are at greatest risk for severe outcomes, including death or the need for a lung transplant. The findings come…
- Gene clues reveal why some rare leukemia patients resist tagraxofusp therapypor Clinical geneticsResearchers at The University of Texas MD Anderson Cancer Center have identified why some patients with a rare type of leukemia, called blastic plasmacytoid dendritic cell neoplasm (BPDCN), eventually develop resistance to tagraxofusp, the first Food a…
- Confirmation of frameshift variants in the last exon of <i>FGFR1</i> as a cause of multiple epiphyseal dysplasiapor Marion Aubert MuccaEuropean Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02176-wConfirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
- Summer highlights from EJHGpor Seda S. ZonuziEuropean Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02172-0Summer highlights from EJHG
- Advisory Board and Contentspor Trends in Genetics
- Subscription and Copyright Informationpor Trends in Genetics
- Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry diseasepor Latest ResultsBackground Methods Results Conclusion
- Clinical characteristics of tumor-induced osteomalacia lesions in the neurocranium and intracranial structurespor Latest ResultsBackground Objective Methods Results …
- Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature reviewpor Latest ResultsPurpose Methods Results Conclusion …
- Prevalence and cardiovascular phenotypes of dextrocardia and situs inversus among 277,396 adults: longitudinal evidence of amplified age-related blood pressure progressionpor Latest ResultsBackground Methods Results Conclusion …
- Unraveling the psychological burden of Behçet disease: the impact of anxiety and depression on health-related quality of life outcomespor Latest ResultsBackground Methods Results Conclusions Clin…
- Elamipretide in pediatric Barth syndrome: from heart failure to school returnpor Latest ResultsBackground Case presentation Conclusions
- The new article is now available. Intractable & Rare Diseases Research[ Advance Publication ] [ Title ] Generation and characterization of induced pluripotent stem cells from a patient with classic Fabry disease [ Author ] Guowei Li,Jing Luan,Zihan Li,Yali Yang,Chonghao Shao,Jing Wang,Zhenzhong Han,Quanlin Wang,Yuan Zhu…
- The new article is now available. Intractable & Rare Diseases Research[ Advance Publication ] [ Title ] Cutaneous lymphomas reported following the use of dupilumab, nemolizumab, tralokinumab, or lebrikizumab: A case investigation based on JADER database and disproportionality analysis [ Author ] Hiroyuki Tanaka,Toshihir…
- The new article is now available. Intractable & Rare Diseases Research[ Advance Publication ] [ Title ] Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene [ Author ] Jinyu Liu,Yi Wu,Shixuan Xu,Yirui Qin,Guoqiang Li,Yiyao Chen,…
- Analysis of homocysteine levels in carriers with MMACHC gene variantspor Latest ResultsObjective Methods Results Conclusion …
- Confirmation of frameshift variants in the last exon of <i>FGFR1</i> as a cause of multiple epiphyseal dysplasiapor Marion Aubert MuccaEuropean Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02176-wConfirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
- Summer highlights from EJHGpor Seda S. ZonuziEuropean Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02172-0Summer highlights from EJHG
- New heart disease mechanism revealed: Next-generation targeted therapy shows benefit across mutation typespor Clinical geneticsA study led by the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), working in collaboration with an international research team, has identified a new molecular mechanism involved in hypertrophic cardiomyopathy, the most common in…
- New heart disease mechanism revealed: Next-generation targeted therapy shows benefit across mutation typespor Clinical geneticsA study led by the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), working in collaboration with an international research team, has identified a new molecular mechanism involved in hypertrophic cardiomyopathy, the most common in…
- 1 in 5 relatives of breast and ovarian cancer patients in Estonia carry dangerous cancer-linked genes, study showspor Clinical geneticsIn 2013, Angelina Jolie inspired a wave of testing for pathogenic variants of the gene BRCA1 by announcing that she carried a variant that left her at such high risk of breast cancer that she chose a preventive mastectomy. Many people with similar gene…
- 1 in 5 relatives of breast and ovarian cancer patients in Estonia carry dangerous cancer-linked genes, study showspor Clinical geneticsIn 2013, Angelina Jolie inspired a wave of testing for pathogenic variants of the gene BRCA1 by announcing that she carried a variant that left her at such high risk of breast cancer that she chose a preventive mastectomy. Many people with similar gene…
- AI tool can identify biological profiles associated with thrombosis riskpor Clinical geneticsTwo people may be the same age and have similar family histories or risk factors, yet only one of them may develop thrombosis. To better understand why this occurs, researchers from the Complex Disease Genomics Unit at the Sant Pau Research Institute (…
- AI tool can identify biological profiles associated with thrombosis riskpor Clinical geneticsTwo people may be the same age and have similar family histories or risk factors, yet only one of them may develop thrombosis. To better understand why this occurs, researchers from the Complex Disease Genomics Unit at the Sant Pau Research Institute (…
- Advisory Board and Contentspor Trends in Genetics
- Subscription and Copyright Informationpor Trends in Genetics
- A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canadapor Maya BinetEuropean Journal of Human Genetics, Published online: 06 July 2026; doi:10.1038/s41431-026-02171-1A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada
- Fibronectin pathway may drive Marfan aortic damage, opening new drug targetspor Clinical geneticsA new study published in Nature Communications identifies a molecular signaling pathway that contributes to the development of life-threatening aortic aneurysms and dissections in Marfan syndrome, a genetic disorder affecting connective tissue. The fin…
- Fibronectin pathway may drive Marfan aortic damage, opening new drug targetspor Clinical geneticsA new study published in Nature Communications identifies a molecular signaling pathway that contributes to the development of life-threatening aortic aneurysms and dissections in Marfan syndrome, a genetic disorder affecting connective tissue. The fin…
- Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variabilitypor Deng, X., Zheng, Y., Wang, J., Shen, F., Luo, J., Liu, C., Yang, G., Yang, Y.BackgroundDuring genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhibited pectus excavatum (PE). This study aimed to investigate the association between FBN2 variants and non-syndromic paediatric …