El Blog de EERR.es
Noticias y artículos de bioquímica y genética humana
Noticias
- Spleen scans reveal genetic clues to coronary artery disease riskpor Clinical genetics
- Blood protein analysis could help diagnose rare diseases missed by genome sequencingpor Clinical genetics
- Certain DNA signatures may reveal which prostate cancers are most likely to spreadpor Clinical genetics
- Calorie restriction reveals a potential way to slow age-related DNA mutationspor Clinical genetics
- Nearly half of depression risk factors overlap with physical illnesses, especially gut diseasepor Clinical genetics
- New framework boosts the accuracy of disease risk prediction from genetic datapor Clinical genetics
- How losing the ‘guardian of the genome’ can damage DNA and drive cancerpor Clinical genetics
- Origins of COPD may lie in how some children’s lungs develop, but only when they are exposed to polluted airpor Clinical genetics
- Origins of COPD may lie in how some children’s lungs develop, but only when they are exposed to polluted airpor Clinical genetics
- Sibling data reveal genetic clusters across 22 autoimmune diseasespor Clinical genetics
- Sibling data reveal genetic clusters across 22 autoimmune diseasespor Clinical genetics
- Healthy aging shaped by more varied biology than previously thoughtpor Clinical genetics
- Healthy aging shaped by more varied biology than previously thoughtpor Clinical genetics
- Cerebral palsy might be a collection of symptoms, not its own diseasepor Clinical genetics
- Cerebral palsy might be a collection of symptoms, not its own diseasepor Clinical genetics
- Alpha-1 antitrypsin deficiency may raise preterm birth risk, genetic analysis suggestspor Clinical genetics
Artículos
- Craniofacial growth in Mulibrey nanism and impact of growth hormone treatmentpor Latest ResultsBackground Methods Results Conclusions …
- The effect of pharmacological therapy on the nutritional status and body composition of children with spinal muscular Atrophy: a systematic reviewpor Latest ResultsBackground Objective Methods Results …
- Advisory Board and Contentspor Trends in Genetics
- Subscription and Copyright Informationpor Trends in Genetics
- Spleen scans reveal genetic clues to coronary artery disease riskpor Clinical geneticsA new study led by investigators from Mass General Brigham reveals that certain features in the spleen hidden within imaging scans may signal a person’s risk of coronary artery disease (CAD), suggesting targets for prevention and treatment. The finding…
- Blood protein analysis could help diagnose rare diseases missed by genome sequencingpor Clinical geneticsResearchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England have shown that measuring proteins in the blood can provide important additional clues about the effects of genetic variants, helping…
- Certain DNA signatures may reveal which prostate cancers are most likely to spreadpor Clinical geneticsProstate cancer is the second most common form of cancer among men globally. Yet, we still know relatively little about why the disease develops or why some men live with it for years while it progresses aggressively in others.
- Calorie restriction reveals a potential way to slow age-related DNA mutationspor Clinical geneticsMutations are changes in the molecular «letters» that make up DNA, the genetic blueprint for cells. Mutations build up with age in every cell when DNA is damaged or when cells make mistakes in fixing or copying it. Most mutations are harmless, but when…
- A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature reviewpor Xinyu ZhouBackground15q11.2–q13 duplication syndrome (Dup15q; OMIM #608636) is a rare neurodevelopmental disorder. While interstitial duplications (copy number = 3) are relatively well characterized, contiguous rearrangements comprising both tetrasomic (copy num…
- Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up studypor Jiao TongBackgroundIsolated lissencephaly sequence (ILS) is a severe neurodevelopmental disorder associated with 17p13.3 microdeletion. This 6-year longitudinal study aimed to systematically characterize physical and neurodevelopmental trajectories of a Chinese…
- Appreciating diversity: a review of the Iranian genomic landscapepor Somayeh AlinaghiEuropean Journal of Human Genetics, Published online: 08 September 2026; doi:10.1038/s41431-026-02220-9Appreciating diversity: a review of the Iranian genomic landscape
- Appreciating diversity: a review of the Iranian genomic landscapepor Somayeh AlinaghiEuropean Journal of Human Genetics, Published online: 08 September 2026; doi:10.1038/s41431-026-02220-9Appreciating diversity: a review of the Iranian genomic landscape
- Nearly half of depression risk factors overlap with physical illnesses, especially gut diseasepor Clinical geneticsQIMR Berghofer researchers have identified a strong genetic link between gut-related health conditions and depression in a study offering new insights into why physical illnesses often accompany the mental health condition.
- Augmented glycerophospholipid catabolism coincides with synaptic and cognitive deficits in a mouse model of GNB1 encephalopathypor Latest Results
- Brittle Bone Society best practice management recommendations for adults with severe Osteogenesis Imperfecta (OI), including type III OI: a consensus statement from a multi-disciplinary severe OI working grouppor Latest ResultsBackground Methods Results Conclusions …
- Multidimensional analysis of pulmonary blastoma: clinical, bibliometric and bioinformatic insightspor Latest ResultsObjective Methods Results Conclusion …
- Real world data from the Heidelberg Registry of Chronic Singultus (HeReChroS)por Latest ResultsBackground and aims Methods Results Conclusi…
- New framework boosts the accuracy of disease risk prediction from genetic datapor Clinical geneticsInvestigators at Cedars-Sinai Health Sciences University have developed a computational framework to improve how genetic data is used to estimate an individual’s inherited risk of developing conditions like Alzheimer’s disease, type 2 diabetes, high bl…
- Editorial on the hereditary cancer special issuepor Maurizio GenuardiEuropean Journal of Human Genetics, Published online: 07 September 2026; doi:10.1038/s41431-026-02212-9Editorial on the hereditary cancer special issue
- How losing the ‘guardian of the genome’ can damage DNA and drive cancerpor Clinical geneticsA new study finds that when p53, one of the most important cancer-protecting genes, stops working, cells produce too much RNA and consume excessive amounts of the building blocks needed to copy their DNA. This shortage disrupts DNA replication, leading…
- Editorial on the hereditary cancer special issuepor Maurizio GenuardiEuropean Journal of Human Genetics, Published online: 07 September 2026; doi:10.1038/s41431-026-02212-9Editorial on the hereditary cancer special issue
- Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complexpor Xiao-fang ZhangBackgroundSpinal muscular atrophy (SMA) and tuberous sclerosis complex (TSC) are both rare genetic disorders, and their co-occurrence is expected to be exceptionally uncommon. Although risdiplam has demonstrated efficacy in SMA, evidence regarding its …
- Origins of COPD may lie in how some children’s lungs develop, but only when they are exposed to polluted airpor Clinical geneticsChronic obstructive pulmonary disease (COPD) is a serious, incurable lung disease that is common in older people. However, researchers are learning that the origins of the disease may lie decades earlier in how children’s lungs grow and develop.
- Origins of COPD may lie in how some children’s lungs develop, but only when they are exposed to polluted airpor Clinical geneticsChronic obstructive pulmonary disease (COPD) is a serious, incurable lung disease that is common in older people. However, researchers are learning that the origins of the disease may lie decades earlier in how children’s lungs grow and develop.
- Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVERpor Latest ResultsBackground Main body Conclusion
- Bibliometric mapping of scientific production on maturity-onset diabetes of the young: evolution, hotspots, and future directionspor Latest ResultsBackground Methods Results Conclusion …
- Advancing continuous glucose monitoring for children and young people with hyperinsulinism – a white paper from the Congenital Hyperinsulinism International Collaborative Research Networkpor Latest ResultsBackground Main body Conclusion …
- The withdrawal of beti-cel therapy for β-Thalassemia from the European market: a multistakeholder perspectivepor Latest Results
- Unlocking MENA’s potential in rare-disease precision medicinepor Latest Results
- Sibling data reveal genetic clusters across 22 autoimmune diseasespor Clinical geneticsAutoimmune diseases arise when the immune system mistakenly attacks the body’s own tissues. Researchers have long known that these diseases tend to run in families, but the genetic relationships between different autoimmune diseases have remained unclear.
- Sibling data reveal genetic clusters across 22 autoimmune diseasespor Clinical geneticsAutoimmune diseases arise when the immune system mistakenly attacks the body’s own tissues. Researchers have long known that these diseases tend to run in families, but the genetic relationships between different autoimmune diseases have remained unclear.
- Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk scoreBackgroundHypertrophic cardiomyopathy (HCM) is a heritable trait with marked variability in expression and outcomes. Our aims were to discover new genetic loci associated with HCM and to test the effect of a new polygenic risk score (PRS) on incidence,…
- Prevalence of <i>BRCA1/2</i> variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Programpor Ciara S. McNevinEuropean Journal of Human Genetics, Published online: 03 September 2026; doi:10.1038/s41431-026-02161-3Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
- Healthy aging shaped by more varied biology than previously thoughtpor Clinical geneticsMolecular changes in aging are far more unique than previously thought, meaning two healthy individuals of identical age can experience significantly different aging journeys.
- Healthy aging shaped by more varied biology than previously thoughtpor Clinical geneticsMolecular changes in aging are far more unique than previously thought, meaning two healthy individuals of identical age can experience significantly different aging journeys.
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndromePilarowski-Björnsson syndrome (PILBOS) is a neurodevelopmental disorder caused by pathogenic variants in CHD1. Here, we characterize a large PILBOS cohort and describe their variants. Using a patient-specific mouse model, we demonstrate that androgens …
- Test-retest reliability and associations of strength and functional outcome measures in adults with spinal muscular atrophypor Latest ResultsBackground Results Conclusions
- A phenotypic paradigm for cerebral palsy geneticsCerebral palsy (CP) is frequently linked to Mendelian disease-associated genes, but no accepted model of its genetic architecture exists. We present a phenotypic model showing statistical evidence of association for only a minority of 515 candidate gen…
- All of Us Research Program year in review: 2025The All of Us Research Program1 released its first genomic dataset (Curated Data Repository version 5 [CDRv5]) of almost 100,000 participants in 2022. Since then, All of Us has continued to expand the scale of its genomic offerings, releasing short-rea…
- This month in The Journalpor Paul W. Hook, Alyson B. BarnesIn genomic medicine, continuously updated public archives of genetic variants linked to clinical phenotypes, such as ClinVar and the Matchmaker Exchange, are essential for variant interpretation, patient diagnosis, and treatment. This form of data shar…
- Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genesIntroductionRapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of inherited cases remain unsolved, limiting eligibility for gen…
- Cerebral palsy might be a collection of symptoms, not its own diseasepor Clinical geneticsHistorically, cerebral palsy (CP) was linked largely to events at birth, including prematurity or temporary loss of oxygen to the brain, but research over the past decade has suggested that genetic factors contribute to CP in many children. In a study …
- Cerebral palsy might be a collection of symptoms, not its own diseasepor Clinical geneticsHistorically, cerebral palsy (CP) was linked largely to events at birth, including prematurity or temporary loss of oxygen to the brain, but research over the past decade has suggested that genetic factors contribute to CP in many children. In a study …
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndromePilarowski-Björnsson syndrome (PILBOS) is a neurodevelopmental disorder caused by pathogenic variants in CHD1. Here, we characterize a large PILBOS cohort and describe their variants. Using a patient-specific mouse model, we demonstrate that androgens …
- A phenotypic paradigm for cerebral palsy geneticsCerebral palsy (CP) is frequently linked to Mendelian disease-associated genes, but no accepted model of its genetic architecture exists. We present a phenotypic model showing statistical evidence of association for only a minority of 515 candidate gen…
- All of Us Research Program year in review: 2025The All of Us Research Program1 released its first genomic dataset (Curated Data Repository version 5 [CDRv5]) of almost 100,000 participants in 2022. Since then, All of Us has continued to expand the scale of its genomic offerings, releasing short-rea…
- This month in The Journalpor Paul W. Hook, Alyson B. BarnesIn genomic medicine, continuously updated public archives of genetic variants linked to clinical phenotypes, such as ClinVar and the Matchmaker Exchange, are essential for variant interpretation, patient diagnosis, and treatment. This form of data shar…
- Alpha-1 antitrypsin deficiency may raise preterm birth risk, genetic analysis suggestspor Clinical geneticsResearchers at the University of Oulu have identified alpha-1 antitrypsin as a potential target for preventing spontaneous preterm birth. In a large genetic study of more than 200,000 mothers, a variant in the SERPINA1 gene, which encodes alpha-1 antit…
- Alpha-1 antitrypsin deficiency may raise preterm birth risk, genetic analysis suggestspor Clinical geneticsResearchers at the University of Oulu have identified alpha-1 antitrypsin as a potential target for preventing spontaneous preterm birth. In a large genetic study of more than 200,000 mothers, a variant in the SERPINA1 gene, which encodes alpha-1 antit…
- How severe illness during pregnancy sometimes alters neurodevelopmentpor Clinical geneticsNeurodevelopmental conditions, which include autism spectrum disorder, ADHD (attention-deficit/hyperactivity disorder) and more, affect around 10% of the American population. Despite their prevalence, it has remained difficult to pin down where, when a…
- How severe illness during pregnancy sometimes alters neurodevelopmentpor Clinical geneticsNeurodevelopmental conditions, which include autism spectrum disorder, ADHD (attention-deficit/hyperactivity disorder) and more, affect around 10% of the American population. Despite their prevalence, it has remained difficult to pin down where, when a…
- Five subtypes of common liver disease discovered—including rapidly progressing genetic formspor Clinical geneticsA liver disease affecting nearly 30% of adults worldwide is not a single illness but five biologically distinct subtypes, Mayo Clinic researchers have found. Each carries different risks for heart disease, liver failure, cancer and the need for liver t…
- Five subtypes of common liver disease discovered—including rapidly progressing genetic formspor Clinical geneticsA liver disease affecting nearly 30% of adults worldwide is not a single illness but five biologically distinct subtypes, Mayo Clinic researchers have found. Each carries different risks for heart disease, liver failure, cancer and the need for liver t…
- New disease gene discovery provides answers to familiespor Clinical geneticsŌtākou Whakaihu Waka researchers have helped identify the cause of a previously unrecognized neurodevelopmental disorder. Dr. Meghan Mulligan, of the Department of Biochemistry, says the finding has given people around the world an answer to the source…
- New disease gene discovery provides answers to familiespor Clinical geneticsŌtākou Whakaihu Waka researchers have helped identify the cause of a previously unrecognized neurodevelopmental disorder. Dr. Meghan Mulligan, of the Department of Biochemistry, says the finding has given people around the world an answer to the source…
- Prevalence of <i>BRCA1/2</i> variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Programpor Ciara S. McNevinEuropean Journal of Human Genetics, Published online: 03 September 2026; doi:10.1038/s41431-026-02161-3Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
- Test-retest reliability and associations of strength and functional outcome measures in adults with spinal muscular atrophypor Latest ResultsBackground Results Conclusions
- Family cancer burden predicts risk in patients with inflammatory bowel diseasepor Clinical geneticsPeople with inflammatory bowel disease (IBD) who have several close relatives with colorectal cancer are significantly more likely to develop the disease themselves. This is demonstrated by a new Swedish registry study from Karolinska Institutet, publi…
- Family cancer burden predicts risk in patients with inflammatory bowel diseasepor Clinical geneticsPeople with inflammatory bowel disease (IBD) who have several close relatives with colorectal cancer are significantly more likely to develop the disease themselves. This is demonstrated by a new Swedish registry study from Karolinska Institutet, publi…
- Influence of homozygosity on genomic structural variation analyses for predicting ACL rupture risk in the Labrador Retriever and Rottweilerpor Mehdi MomenIntroductionAnterior cruciate ligament (ACL) rupture is a common orthopaedic disease in dogs, with varying prevalence and genetic susceptibility across different breeds. Here we investigate the association between genomic structural variation (SV) and …