El Blog de EERR.es
Noticias y artículos de bioquímica y genética humana
Noticias
- New research identifies biological differences in pancreatic cancerpor Clinical genetics
- DNA ‘switch’ uncovers new brake on breast cancer growthpor Clinical genetics
- Drug restores kidney cell function in experimental models of rare Lowe syndromepor Clinical genetics
- Genetic variant may increase the risk of pneumoniapor Clinical genetics
- Neural signaling protein could be therapeutic target for autism-linked gene deletionpor Clinical genetics
- One gene, two paths: Opposite synaptic defects linked to same intellectual disabilitypor Clinical genetics
- Researchers establish best methods to measure genetic variation within the bodypor Clinical genetics
- ‘Genetic map’ of patient’s tumor uncovers cancer risk genes that would otherwise remain hiddenpor Clinical genetics
- New blood count ranges could prevent unnecessary testing for people with Duffy-null traitpor Clinical genetics
- Scientists pinpoint hundreds of genetic variants that offer new insights into inherited breast cancer riskpor Clinical genetics
- Why humans are more sensitive than other species to a brain developmental diseasepor Clinical genetics
- New CRISPR proteins expand editing access to heart disease genespor Clinical genetics
- Key gene preserves lifelong supply of stem cells that make bone healing possible, study suggestspor Clinical genetics
- Researchers identify genetic ‘convergence’ in autism and a possible explanation for the female protective effectpor Clinical genetics
- Hidden ancestral links found in motor neuron disease and dementia could speed up gene discoverypor Clinical genetics
- Breast cancer atlas reveals hidden subtypes to help chart course for precision oncologypor Clinical genetics
Artículos
- Integrated clinical, biochemical, cardiac imaging, and transcriptional changes under MEK inhibition in complicated Noonan syndromepor Andrea GazzinEuropean Journal of Human Genetics, Published online: 07 November 2026; doi:10.1038/s41431-026-02260-1Integrated clinical, biochemical, cardiac imaging, and transcriptional changes under MEK inhibition in complicated Noonan syndrome
- New research identifies biological differences in pancreatic cancerpor Clinical geneticsNew research from the University of Cincinnati Cancer Center found biological differences in pancreatic cancer tumors and immune environments, opening the possibility for more personalized treatments for different populations.
- DNA ‘switch’ uncovers new brake on breast cancer growthpor Clinical geneticsAdelaide University researchers have found a DNA «switch» that helps the body stop the growth of the most common form of breast cancer, providing new insights that could help with future treatments. Up to 80% of breast cancer cases are classified as es…
- Drug restores kidney cell function in experimental models of rare Lowe syndromepor Clinical geneticsOver two decades of research into the cellular mechanisms underlying Lowe syndrome have led to the identification of a potential therapeutic strategy for this rare genetic disorder, which affects the eyes, nervous system and kidneys. The findings are d…
- Genetic variant may increase the risk of pneumoniapor Clinical geneticsPneumonia is a common and sometimes serious infection that affects 20,000–30,000 people in Sweden every year. Well-known risk factors include advanced age, smoking and underlying medical conditions. In a new study published in eBioMedicine, researchers…
- Immunofluorescence mapping vs. electron microscopy in epidermolysis bullosa: comparative retrospective study in 84 genetically confirmed patientspor Latest ResultsBackground Objective Methods Results …
- Phenotypic spectrum and diagnostic evolution in GLUT1 deficiency syndrome: a single-centre adult cohort experiencepor Latest ResultsBackground Methods Results Conclusion …
- Validation of the 7-day FABPRO-GI questionnaire in Turkish Fabry disease patientspor Latest ResultsBackground Methods Results Conclusions …
- Rethinking rare genetic disorderspor Seda S. ZonuziEuropean Journal of Human Genetics, Published online: 06 November 2026; doi:10.1038/s41431-026-02264-xRethinking rare genetic disorders
- Neural signaling protein could be therapeutic target for autism-linked gene deletionpor Clinical geneticsA particular signaling protein in the brain could be a therapeutic target for neurological disorders arising from the deletion of the autism-linked gene MEF2C, University of Illinois Urbana-Champaign researchers found in a new mouse study published in …
- Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic networkpor Latest ResultsBackground Aims Methods Results …
- This month in The Journalpor Paul W. Hook, Alyson B. BarnesCross-phenotype associations can arise through pleiotropy, a process by which a single gene influences multiple traits. Vertical pleiotropy occurs when the genetic effect on one trait directly mediates the effect on another trait, whereas horizontal pl…
- Scaling haplospecific antisense oligonucleotides from N-of-1 to broad use in genetic disease populations by diplotypingAntisense oligonucleotides (ASOs) made for one individual’s extremely rare causal variant usually cannot help others. We show that by designing ASOs against common haplotypes rather than causal variants, a small set of pre-designed ASOs could treat mos…
- Author Indexpor The Journal of Molecular Diagnostics
- Abstractspor The Journal of Molecular Diagnostics
- Disclosure Statementpor The Journal of Molecular Diagnostics
- Title Pagepor The Journal of Molecular Diagnostics
- One gene, two paths: Opposite synaptic defects linked to same intellectual disabilitypor Clinical geneticsA research team led by Dr. Sheng Nengyin of the Kunming Institute of Zoology (KIZ) of the Chinese Academy of Sciences has reframed ZC4H2-associated rare disorder (ZARD)—a disorder marked by intellectual disability, developmental delays, muscle weakness…
- Researchers establish best methods to measure genetic variation within the bodypor Clinical geneticsWashU Medicine researchers have verified the accuracy of genetics tools to correctly identify all the rare DNA changes that make up an individual’s genomic mosaic, paving the way to understanding these variants’ impact on health and disease.
- ‘Genetic map’ of patient’s tumor uncovers cancer risk genes that would otherwise remain hiddenpor Clinical geneticsUsing next-generation sequencing (NGS) to profile tumor cells from patients with solid tumors, researchers at Fondazione Policlinico Universitario A. Gemelli IRCCS identified genetic alterations associated with cancer predisposition in 10% of the subje…
- New blood count ranges could prevent unnecessary testing for people with Duffy-null traitpor Clinical geneticsThe American Society of Hematology has developed new reference ranges for children and adults with Duffy-null status, a common genetic trait associated with naturally lower circulating white blood cell counts that affects more than 66% of people with A…
- Scientists pinpoint hundreds of genetic variants that offer new insights into inherited breast cancer riskpor Clinical geneticsScientists have carried out one of the largest experimental studies of breast cancer variants to date, helping pinpoint genetic changes that are most likely to contribute to the development of the disease.
- A home for rare disease: the creation of the NORD centers of excellencepor Latest Results
- Clinical utility and implementation of genomic newborn screening: findings from the SNUseq Baby Projectpor Jee Min KimEuropean Journal of Human Genetics, Published online: 05 November 2026; doi:10.1038/s41431-026-02263-yClinical utility and implementation of genomic newborn screening: findings from the SNUseq Baby Project
- Why humans are more sensitive than other species to a brain developmental diseasepor Clinical geneticsResearchers at VIB and KU Leuven have uncovered how mutations in the ASPM gene disrupt the development of neural stem cells that help the human brain grow. This disruption explains how these mutations cause microcephaly, a condition characterized by an…
- New CRISPR proteins expand editing access to heart disease genespor Clinical geneticsRice University’s Han Xiao has used his AI-supported Sequence Display technology to expand the targeting abilities of CRISPR/Cas9. In a paper recently published in Nature Communications, Xiao evolved several variants of a compact Cas9 that could effici…
- Key gene preserves lifelong supply of stem cells that make bone healing possible, study suggestspor Clinical geneticsThe action of a key gene is required to maintain a lifelong supply of stem cells that make bone healing possible, a new study finds.
- Researchers identify genetic ‘convergence’ in autism and a possible explanation for the female protective effectpor Clinical geneticsIn many cases, all it takes is one mutated gene to orchestrate changes across a whole network of genes linked to autism, according to new results published in Nature by researchers at Boston Children’s Hospital. The finding could explain why different …
- Living with dystrophic epidermolysis bullosa in Poland: first national study of health-related quality of life and symptom burdenpor Latest ResultsBackground Methods Results Conclusions …
- Patient perspectives on European Reference Networks: supporting a flagship initiative through lived experiencepor Latest Results
- Overlooked brain injury manifesting as diplopia in Wilson diseasepor Latest Results
- Hidden ancestral links found in motor neuron disease and dementia could speed up gene discoverypor Clinical geneticsResearchers at the Macquarie University Brain Institute and Clinic have helped accelerate the search for disease-causing genes by building new genetic ‘families.’ The team uncovered hundreds of previously unrecognized family connections by analyzing th…
- Breast cancer atlas reveals hidden subtypes to help chart course for precision oncologypor Clinical geneticsA new molecular map of breast cancer has identified novel forms of the disease and provides a foundation for selecting personalized treatments guided by a tumor’s molecular characteristics rather than standard pathology alone.
- New clues about why the eye’s iris sheds in pigmentary glaucomapor Clinical geneticsYale School of Medicine researchers have discovered new genetic risk factors associated with a subtype of the eye condition glaucoma. The findings highlight a novel mechanism that may contribute to the onset of the disease.
- Rare non-coding variant rs890306703 is genetically associated with early-onset severe retinal degenerationIntroductionInherited retinal dystrophies (IRDs) are rare genetically heterogeneous disorders, characterised by photoreceptor (PR) disease and vision loss. Most IRDs are progressive involving varying degrees of rod and cone PR loss of function, such as…
- Association of MUTYH mutations with breast cancer risk and adverse prognosis: a Chinese cohort studypor Lu, W., Zhang, K., Zhu, S., Yang, H., Yang, X., Yang, C., Ying, J., Xuan, L., Dong, L.WHAT IS ALREADY KNOWN ON THIS TOPICBefore this study, MUTYH’s established role was primarily in colorectal cancer syndromes, and large-scale evidence on its germline mutations in breast cancer—particularly among Chinese women—was abse…
- Monitoring disease progression in fabry disease: insights from a structured nominal expert consensuspor Latest Results
- Letter to the Editor in response to article: Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical teampor Latest Results
- Abstractspor The Journal of Molecular Diagnostics
- Disclosure Statementpor The Journal of Molecular Diagnostics
- Title Pagepor The Journal of Molecular Diagnostics
- Author Indexpor The Journal of Molecular Diagnostics
- Hereditary lung and liver disease successfully treated for the first time using gene correctionpor Clinical geneticsAlpha-1 antitrypsin deficiency (AATM) is a congenital metabolic disorder. It is caused by a genetic defect, which results in the protective protein alpha-1 antitrypsin (AAT) being produced incorrectly. This deficiency primarily damages the lungs and th…
- Rapid genome sequencing helps guide care for about 50% of children with cancerpor Clinical geneticsTwo studies involving investigators at Cedars-Sinai Guerin Children’s and the University of Cambridge, U.K., highlight the growing potential of whole-genome sequencing to transform the diagnosis and treatment of childhood conditions such as cerebral pa…
- Navigating the complexity of BRCA1/BRCA2 constitutional mosaicism: a case report and literature review exploring clinical, molecular and genetic counselling approachesWHAT IS ALREADY KNOWN ON THIS TOPICConstitutional mosaicism resulting from postzygotic events affecting BRCA1 or BRCA2 is extremely rare.It can evade conventional germline testing strategies and complicate cancer risk assessment and genetic counselling…
- Navigating the complexity of BRCA1/BRCA2 constitutional mosaicism: a case report and literature review exploring clinical, molecular and genetic counselling approachesWHAT IS ALREADY KNOWN ON THIS TOPICConstitutional mosaicism resulting from postzygotic events affecting BRCA1 or BRCA2 is extremely rare.It can evade conventional germline testing strategies and complicate cancer risk assessment and genetic counselling…
- Subtype-specific mutations drive relapse risk in most common childhood leukemiapor Clinical geneticsSome cases of the most common childhood cancer, B-cell acute lymphoblastic leukemia (B-ALL), return after treatment—and genetic changes present from the start may help explain why. Scientists at St. Jude Children’s Research Hospital and Seattle Childre…
- Subscription and Copyright Informationpor Trends in Genetics
- Advisory Board and Contentspor Trends in Genetics
- Researchers identify connection between pulmonary hypertension and cognitive impairmentpor Clinical geneticsUniversity of Pittsburgh and UPMC researcher-clinicians have uncovered why many pulmonary hypertension patients report symptoms of cognitive decline.
- The new article is now available. Intractable & Rare Diseases Research[ Advance Publication ] [ Title ] Disability outcome and associated factors in patients with myotonic dystrophy type 1: A retrospective cohort analysis [ Author ] Wenhan Zhang,Huahua Zhong,Yuean Yang,Fangyuan Qian,Zhijie Lu,Li Zeng,Jing Miao,Xuefan Yu…
- The new article is now available. Intractable & Rare Diseases Research[ Advance Publication ] [ Title ] Disability outcome and associated factors in patients with myotonic dystrophy type 1: A retrospective cohort analysis [ Author ] Wenhan Zhang,Huahua Zhong,Yuean Yang,Fangyuan Qian,Zhijie Lu,Li Zeng,Jing Miao,Xuefan Yu…
- The new article is now available. Intractable & Rare Diseases Research[ Advance Publication ] [ Title ] Disability outcome and associated factors in patients with myotonic dystrophy type 1: A retrospective cohort analysis [ Author ] Wenhan Zhang,Huahua Zhong,Yuean Yang,Fangyuan Qian,Zhijie Lu,Li Zeng,Jing Miao,Xuefan Yu…
- The new article is now available. Intractable & Rare Diseases Research[ Advance Publication ] [ Title ] Disability outcome and associated factors in patients with myotonic dystrophy type 1: A retrospective cohort analysis [ Author ] Wenhan Zhang,Huahua Zhong,Yuean Yang,Fangyuan Qian,Zhijie Lu,Li Zeng,Jing Miao,Xuefan Yu…
- Comparison of the relationship between oral findings and salivary parameters and DMFT in patients with lipoid proteinosis and healthy individuals: a case-control studypor Latest ResultsBackground Methods Results Conclusion …
- Pregnancy in women with inherited metabolic disorders: maternal and offspring outcomes with long-term follow-uppor Latest ResultsBackground Methods Results Conclusion …
- Genetic spectrum, retinal phenotypes, and visual function in female carriers of RPGRpor Latest ResultsPurpose Methods Results Conclusions …
- Hemoglobinopathy diagnosis in LMICs: from hematological screening to molecular confirmationpor Savitri M. NeruneHemoglobinopathy diagnosis in low- and middle-income countries (LMICs) is limited not only by access to technology but also by attrition between screening, phenotypic resolution, molecular confirmation, counseling, and linkage to care. India illustrate…
- Longitudinal characterization of a Leigh-like presentation associated with the MT-ND4 m.11470A>C variantpor Liang LiLeigh syndrome comprises genetically heterogeneous mitochondrial disorders, but interpretation of rare mitochondrial DNA variants is often limited by sparse longitudinal data. We report a male patient followed from childhood to age 16 with the MT-ND4 m…
- Urinary mevalonate excretion: a specific and sensitive screening test for mevalonate kinase deficiencypor Latest ResultsBackground Methods Results Conclusion …