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Edition of 10 February 2026

New Syndromes

ERCC1 variants cause a hepatorenal syndrome

A new study published in European Journal of Human Genetics described biallelic variants in ERCC1, which encodes a multifunctional endonuclease involved in nucleotide excision repair, interstrand crosslink repair, and DNA double-strand break repair. The variants were found among 7 individuals from 5 unrelated families, with progressive cholestatic liver disease, risk of pediatric hepatocellular carcinoma, renal impairment, photosensitivity, growth restriction, and multi-organ failure in older individuals. Various analyses confirmed this gene-disease association and expanded the spectrum of DNA repair disorders with its mutations.

Eur J Hum Genet. 2025 Oct;33(10):1252-1263

POC5 variants cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

A new study published in Genetics in Medicine presented biallelic loss-of-function variants in POC5, which codes a protein which plays an essential role during cell cycle and cilium formation. The variants were shown within 12 unrelated inidividuals sharing similar clinical presentations including rodcone dystrophy, diabetes mellitus with high insulin resistance, lipodystrophy, muscle cramps, and renal failure. Various analyses emphasized the pleiotropic effects of POC5 variants and highlighted the significance of adipose tissue and metabolic dysfunction in the ciliopathy phenotype spectrum.

Genet Med. 2025 Oct;27(10):101513

RREB1 variants cause a congenital heart disease, genitourinary malformations, and developmental delay

A new study published in American Journal of Medical Genetics (Part A) characterized truncating variants in the RREB1 gene, coding for a transcription factor implicated in Ras-MAPK signaling, a pathway critical for regulating cell migration, metabolism, differentiation, and survival. The variants were found among 6 individuals, suffering from mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay. Various analyses suggested that variants in the RREB1 gene cause a novel RASopathy and that it be considered in the differential diagnosis of individuals presenting with RASopathy-like features.

Am J Med Genet A. 2025 Oct;197(10):e64119

SNAPIN variants cause a prenatal-onset neurodevelopement disorder

A new study published in American Journal of Human Genetics characterized biallelic variants in SNAPIN, which encodes encodes SNARE-associated protein, a ubiquitously expressed component of the autophagy-lysosomal pathway that catalyzes retrograde axonal transport and synaptic transmission. The variants were found among 6 individuals from 5 unrelated families with neuroanatomical anomalies (ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size), and abnormal craniofacial and skeletal features. Various analyses showed that SNAPIN expands the growing list of autophagy-lysosome pathway regulators essential for neuronal homeostasis and prenatal brain development.

Am J Hum Genet. 2025 Oct 2;112(10):2402-2421

New Genes

Cranioectodermal dysplasia: Identification of a homozygous variant in CILK1

To read more about “Cranioectodermal dysplasia”

Eur J Hum Genet. 2025 Oct;33(10):1240-1251

Rare non-syndromic intellectual disability: Identification of heterozygous variants in TMEM184B

To read more about “Rare non-syndromic intellectual disability”

Am J Hum Genet. 2025 Oct 2;112(10):2381-2401

Von Willebrand disease type 1: Identification of biallelic variants in MADD

To read more about “Von Willebrand disease type 1”

Blood . 2025 Oct 23;146(17):2133-2144

Clinical Research

Differentiated thyroid carcinoma: Improvement of the mortality risk classification of the American Joint Committee on Cancer by integrating the genetic statuses of BRAF and TERTp (international, multicentre, retrospective cohort study)

To read more about “Differentiated thyroid carcinoma”

Lancet Oncol. 2025 Oct;26(10):1382-1392

T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency: Sustained clinical efficacy and safety of autologous CD34+ hematopoietic stem-cell lentiviral gene therapy

To read more about “T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency”

N Engl J Med. 2025 Oct 16;393(15):1486-1497

Other publications

Please find below some more interesting publications

*****

Natural History

Danon disease Danon disease in male patients: a prospective natural history study to augment understanding of the phenotype

Orphanet J Rare Dis. 2025 Oct 21;20(1):530

*****

Registry

Mucopolysaccharidosis type 4A Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

Orphanet J Rare Dis. 2025 Oct 30;20(1):548

Myasthenia gravis Obstetric and Neonatal Outcomes in Patients With Maternal Myasthenia Gravis

Neurology. 2025 Oct 21;105(8):e214139

*****

Meta-analysis

Hereditary cerebral amyloid angiopathy Association between the Edinburgh CT and genetic diagnostic criteria for cerebral amyloid angiopathy-associated lobar intracerebral haemorrhage and recurrent intracerebral haemorrhage: an individual patient data meta-analysis

Lancet Neurol. 2025 Oct;24(10):828-839

*****

Large observational study

Dentatorubral pallidoluysian atrophy Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral-Pallidoluysian Atrophy Patients

Ann Neurol. 2025 Oct;98(4):750-761

*****

Clinical trial

C3 glomerulopathy Oral iptacopan therapy in patients with C3 glomerulopathy: a randomised, double-blind, parallel group, multicentre, placebo-controlled, phase 3 study

Lancet. 2025 Oct 11;406(10512):1587-1598

Hemophilia Marstacimab prophylaxis in hemophilia A/B without inhibitors: results from the phase 3 BASIS trial

Blood. 2025 Oct 2;146(14):1654-1663

Hereditary ATTR amyloidosis Effects of vutrisiran on cardiac structure and function in patients with transthyretin amyloidosis with cardiomyopathy: secondary outcomes of the HELIOS-B trial

Nat Med. 2025 Oct;31(10):3560-3568

Pulmonary arterial hypertension Sotatercept for Pulmonary Arterial Hypertension within the First Year after Diagnosis

N Engl J Med. 2025 Oct 23;393(16):1599-1611

Systemic lupus erythematosus A Phase 3 Trial of Telitacicept for Systemic Lupus Erythematosus

N Engl J Med. 2025 Oct 16;393(15):1475-1485

Anti-neutrophil cytoplasmic antibody-associated vasculitis Time-Dependent Effect of Prophylactic Trimethoprim-Sulfamethoxazole on the Incidence of Serious Infections in Antineutrophil Cytoplasmic Antibody–Associated Vasculitis: A Target Trial Emulation Study

Arthritis Rheumatol. 2025 Oct;77(10):1407-1415

Idiopathic bronchiectasis Hypertonic Saline or Carbocisteine in Bronchiectasis

N Engl J Med. 2025 Oct 23;393(16):1565-1577

Metachromatic leukodystrophy, late infantile form Effects of atidarsagene autotemcel gene therapy on peripheral nerves in late-infantile metachromatic leukodystrophy

Brain. 2025 Oct 3;148(10):3727-3736

*****

Real word evidence

Familial isolated hypoparathyroidism Bone Health and Linear Growth in Children With Familial Hypoparathyroidism Treated With Human Parathyroid Hormone 1-34

J Clin Endocrinol Metab. 2025 Sep 16;110(10):2810-2817

Homozygous familial hypercholesterolemia Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants

Orphanet J Rare Dis. 2025 Oct 14;20(1):513

Proximal spinal muscular atrophy Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration

Orphanet J Rare Dis. 2025 Oct 21;20(1):526

Therapeutic Approaches

Alagille syndrome: Proof of principle for postnatal AAV-mediated Sox4 knockdown in thyroxine-binding globulin+ cells as a therapeutic approach for liver disease

To read more about “Alagille syndrome”

Gastroenterology. 2025 Oct;169(5):1000-1016

Fibrodysplasia ossificans progressiva: RK783, a BMP type 1 receptor kinase inhibitor as an acute medication to prevent genetically induced heterotopic ossification in mouse models

To read more about “Fibrodysplasia ossificans progressiva”

Bone. 2025 Oct:199:117565

Muscular dystrophy: Preclinical quality, safety, and efficacy of the first iPSC-derived tissue-specific stem cell therapy

To read more about “Muscular dystrophy”

Mol Ther. 2025 Oct 1;33(10):5099-5117

Other publications

Please find below some more interesting publications

Acute myeloid leukemia with t(9;22)(q34.1;q11.2)/

B-cell chronic lymphocytic leukemia Preclinical characterization of TGRX-678, a brain-penetrant allosteric inhibitor of BCR::ABL1

Blood. 2025 Oct 23;146(17):2088-2101

Calciphylaxis Pharmacological targeting of the IL-17/neutrophil axis attenuates calcific deposits in rat models of calciphylaxis

J Clin Invest. 2025 Aug 15;135(19):e190369

CLN1 disease AAV-delivered PPT1 provides long-term neurological benefits in CLN1 mice and achieves therapeutic levels in sheep brain

Mol Ther. 2025 Oct 1;33(10):4799-4819

Duchenne muscular dystrophy AAV-microutrophin gene therapy confers durable cardioprotection against pharmacologic and exercise-induced injury in the mdx mouse

Mol Ther. 2025 Oct 1;33(10):4834-4847

Early infantile developmental and epileptic encephalopathy CRISPR activation for SCN2A-related neurodevelopmental disorders

Nature. 2025 Oct;646(8086):983-991

Glutaryl-CoA dehydrogenase deficiency Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice

Mol Ther. 2025 Oct 1;33(10):4820-4833

Hemophilia A The interleukin-33 receptor (ST2) is a novel therapeutic target to attenuate the progression of hemophilic arthropathy

Blood. 2025 Oct 16;146(16):1979-1990

Huntington disease 3D cultured human medium spiny neurons functionally integrate and rescue motor deficits in Huntington’s disease mice

J Clin Invest. 2025 Oct 15;135(20):e187941

Krabbe disease Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease

Brain. 2025 Oct 3;148(10):3748-3762

MEPAN syndrome A mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron–sulfur cluster and supercomplex formation

Proc Natl Acad Sci U S A. 2025 Oct 7;122(40):e2506761122

Autosomal dominant non-syndromic genetic deafness Single-dose genome editing therapy rescues auditory and vestibular functions in adult mice with DFNA41 deafness

J Clin Invest. 2025 Aug 14;135(20):e187872

Smith-Magenis syndrome Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models

Am J Hum Genet. 2025 Oct 2;112(10):2338-2362

Spinocerebellar ataxia type 3 Gene editing for Spinocerebellar ataxia type 3 taking advantage of the human ATXN3L paralog as replacement gene

Gene Ther. 2025 Oct;32(5):462-474

Biomarkers

Congenital hypogonadotropic hypogonadism: High predictive value of serum FSH combined with inhibin B or anti-Müllerian hormone to distinguish the disease to self-limited delayed puberty in adolescent males

To read more about “Congenital hypogonadotropic hypogonadism”

J Clin Endocrinol Metab. 2025 Sep 16;110(10):e3203-e3214

Primary Sjögren disease: Deep flow cytometry immunophenotyping of B and T cell compartments, coupled with clinical, biologic, and histopathologic data analysis, to determine new biomarkers predictive of non-Hodgkin lymphoma

To read more about “Primary Sjögren disease”

Arthritis Rheumatol. 2025 Oct;77(10):1394-1406

Other publications

Please find below some more interesting publications

Amyotrophic lateral sclerosis

A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis

Nat Med. 2025 Oct;31(10):3440-3450

CSF Aβ, Tau, Axonal, Synaptic, Glial, Neural, and Inflammatory Biomarkers in Patients With Sporadic Amyotrophic Lateral Sclerosis

Neurology. 2025 Oct 7;105(7):e213914

Cortical Excitability as a Prognostic and Phenotypic Stratification Biomarker in Amyotrophic Lateral Sclerosis

Ann Neurol. 2025 Oct;98(4):801-813

Huntington disease A digital motor score for sensitive detection of progression in Huntington’s disease

Brain. 2025 Sep 3;148(9):3228-3238

Isolated biliary atresia Increased serum GM-CSF at diagnosis of biliary atresia is associated with improved biliary drainage

Pediatr Res. 2025 Oct;98(4):1386-1394

Myelodysplastic syndrome IPSS-M risk and specific sex-associated somatic mutations predict response to ESA therapy in LR-MDS: building a new score

Blood. 2025 Oct 2;146(14):1693-1706

Pulmonary arterial hypertension Urinary leukotriene E4 in pediatric pulmonary arterial hypertension: a pilot case control study

Arch Pediatr. 2025 Oct 6:S0929-693X(25)00179-4

Systemic lupus erythematosus Analysis of the Longitudinal Behavior of Serum Levels of Soluble Flt1 and Placental Growth Factor in Pregnant Patients With Systemic Lupus Erythematosus

Arthritis Care Res (Hoboken). 2025 Sep;77(9):1125-1134

Diagnostic Approaches

Congenital myasthenic syndrome: Importance of genetic testing by whole-exome sequencing in seronegative patients

To read more about “Congenital myasthenic syndrome”

Neurology. 2025 Oct 21;105(8):e214177

Other publications

Please find below some more interesting publications

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

Eur J Hum Genet. 2025 Oct;33(10):1281-1289

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis

Am J Med Genet A. 2025 Oct;197(10):e64146

Acute disseminated encephalomyelitis with anti-MOG antibodies/

Acute transverse myelitis with anti-MOG antibodies/

Neuromyelitis optica spectrum disorder with anti-MOG antibodies/ Deep Learning Modeling to Differentiate Multiple Sclerosis From MOG Antibody-Associated Disease

Neurology. 2025 Sep 23;105(6):e214075

Cushing disease Diagnostic Value of 11C-Methionine PET-CT Imaging in Persistent or Recurrent Cushing Disease After Surgery

J Clin Endocrinol Metab. 2025 Sep 16;110(10):2845-2852

Neurofibromatosis type 1 Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1

Hum Mol Genet. 2025 Sep 19;34(19):1628-1637

Neonatal Screening

Gene-specific assessment of variant prioritization to establish analytical validity prior to inclusion in genomic newborn screening

Genet Med. 2025 Oct;27(10):101532

Other publications

Please find below some more interesting publications. For a more complete selection, do not hesitate to consult our Newborn Screening Bibliographical Knowledgebase.

Class I glucose-6-phosphate dehydrogenase deficiency Outcomes of Universal Newborn G6PD Deficiency Screening in a Large Urban Cohort

Pediatrics. 2026 Jan 1;157(1):e2025072850

Congenital adrenal hyperplasia Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing

Orphanet J Rare Dis. 2025 Nov 21;20(1):599

Congenital bile acid synthesis defect type 2 Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

Am J Med Genet A. 2025 Dec 12:e70025

Hemoglobinopathy Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia

Int J Neonatal Screen. 2025 Nov 14;11(4):107

Medium chain acyl-CoA dehydrogenase deficiency Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges

J Mother Child. 2025 Dec 4;29(1):227-233

Patient Management and Therapy

Cystic fibrosis: Systematic review of CRISPR-based technologies, strategy design, efficiency of correction or editing, functional restoration, and off-target editing and other editing byproducts

To read more about “Cystic fibrosis”

Mol Ther. 2025 Sep 3;33(9):4091-4112

Duchenne muscular dystrophy: Overview of recent progress and challenges in AAV-microdystrophin therapeutics development

To read more about “Duchenne muscular dystrophy”

Gene Ther. 2025 Oct;32(5):447-461

Cholestatic liver diseases: Review of the patient journey focused on the timing of liver transplantion and peritransplant management

To read more about “Primary biliary cholangitis”
To read more about “Primary sclerosing cholangitis”

Hepatology. 2025 Oct 1;82(4):1016-1035

Proximal spinal muscular atrophy: Review of advanced therapies approved, and the rationale, options and challenges, including ethical and safety issues, to initiate in utero therapy

To read more about “Proximal spinal muscular atrophy”

Brain. 2025 Sep 3;148(9):3043-3056

Other publications

Please find below some more interesting publications

Autosomal recessive cerebellar ataxia Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Ann Neurol. 2025 Sep;98(3):448-470

Familial chylomicronemia syndrome/

Homozygous familial hypercholesterolemia Gene therapy and genome editing for lipoprotein disorders

Eur Heart J. 2025 Sep 15;46(35):3420-3433

Familial exudative vitreoretinopathy Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics

Prog Retin Eye Res. 2025 Sep:108:101387

Follicular lymphoma The future of follicular lymphoma management: strategies on the horizon

Blood. 2025 Oct 9;146(15):1792-1801

Follicular lymphoma Treatment of relapsed and refractory follicular lymphoma: which treatment for which patient for which line of therapy?

Blood. 2025 Oct 9;146(15):1782-1791

Idiopathic inflammatory myopathy Advances in the classification and management of idiopathic inflammatory myopathies

Lancet Neurol. 2025 Sep;24(9):776-788

Idiopathic panuveitis/

Non-infectious anterior uveitis/

Non-infectious posterior uveitis Immunomodulatory therapy in non-infectious Uveitis: Current landscape, gaps, and future directions

Prog Retin Eye Res. 2025 Sep:108:101380

Medullary thyroid carcinoma Approach to the Patient: Hereditary Medullary Thyroid Carcinoma

J Clin Endocrinol Metab. 2025 Aug 7;110(9):2685-2697

Mucopolysaccharidosis type 4A Recent advances in mucopolysaccharidosis IVA treatment

Orphanet J Rare Dis. 2025 Oct 14;20(1):512

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality A precision medicine approach to the myelodysplastic syndrome with isolated deletion 5q, 50 years after its discovery

Blood. 2025 Oct 16;146(16):1883-1896

Neurofibromatosis type 1 Artificial intelligence-based tools for precision diagnosis and treatment of neurofibromatosis type 1 associated peripheral and central glial tumors

Orphanet J Rare Dis. 2025 Oct 30;20(1):551

Primary biliary cholangitis Primary biliary cholangitis: Personalizing second-line therapies

Hepatology. 2025 Oct 1;82(4):895-910

Primary erythromelalgia/

Secondary erythromelalgia Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review

Pediatr Res. 2025 Sep;98(3):786-799

Primary sclerosing cholangitis PSC and colitis: A complex relationship

Hepatology. 2025 Oct 1;82(4):960-984

Syndromic craniosynostosis Management of upper airway obstruction in syndromic craniosynostosis: A lifespan approach from childhood to adulthood

Arch Pediatr. 2025 Oct 7:S0929-693X(25)00183-6

X-linked hypophosphatemia X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab

Orphanet J Rare Dis. 2025 Oct 7;20(1):505

X-linked lymphoproliferative disease due to SAP deficiency The neurologic face of X-linked lymphoproliferative syndrome type 1: a systematic review

Orphanet J Rare Dis. 2025 Oct 21;20(1):528

Recommendations

Autoimmune hepatitis: Comprehensive, evidence-based update of the British Society of Gastroenterology's guidelines for diagnosis, assessment of disease severity, and all aspects of disease management

To read more about “Autoimmune hepatitis”

Gut. 2025 Aug 7;74(9):1364-1409

Gaucher disease: French National Diagnosis and Care Protocol to provide health care professionals with guidance for the optimal management and care of patients

To read more about “Gaucher disease”

Orphanet J Rare Dis. 2025 Oct 27;20(1):542

Mastocytosis: Compendium of evidence-based French recommendations on current optimal diagnostic, management and care recommendations for adult patients

Lire le résumé

To read more about “Mastocytosis”

Orphanet J Rare Dis. 2025 Oct 2;20(1):499

Other publications

Please find below some more interesting publications

COL4A1 or COL4A2-related cerebral small vessel disease COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management

Genet Med. 2025 Sep;27(9):101514

Complications after hematopoietic stem cell transplantation Results From a UK Consensus via Delphi on Practical Considerations Surrounding Risk Assessment and Patient Monitoring for a Prompt Diagnosis of Severe Veno-Occlusive Disease (VOD) in Adults Post-HSCT

EJHaem. 2025 Sep 30;6(5):e70143

Down syndrome Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genet Med. 2025 Sep;27(9):101505

Idiopathic gastroparesis AGA Clinical Practice Guideline on Management of Gastroparesis

Gastroenterology. 2025 Oct;169(5):828-861

Immune thrombocytopenia Appropriate Management of Thrombotic Risk in Patients With Primary Immune Thrombocytopenia in the UK: A Modified Delphi Consensus

EJHaem. 2025 Sep 3;6(5):e70134

Juvenile idiopathic arthritis Monitoring of Juvenile Idiopathic Arthritis–Associated Uveitis in Long-Term Disease Remission: Consensus-Based Recommendations From the Multinational Interdisciplinary Working Group for Uveitis in Childhood

Arthritis Care Res (Hoboken). 2025 Sep;77(9):1106-1111

Rare primary hyperaldosteronism Primary Aldosteronism: An Endocrine Society Clinical Practice Guideline

J Clin Endocrinol Metab. 2025 Aug 7;110(9):2453-2495

Renal cell carcinoma Assessing pathological response to neoadjuvant therapy in renal cell carcinoma: a systematic review and guidelines for sampling and reporting standards from the International Neoadjuvant Kidney Cancer Consortium

Lancet Oncol. 2025 Oct;26(10):e536-e546

Systemic erythematosus lupus

2024 American College of Rheumatology (ACR) Guideline for the Screening, Treatment, and Management of Lupus Nephritis

Arthritis Rheumatol. 2025 Sep;77(9):1115-1135

EULAR recommendations for a core dataset to support clinical care and translational and observational research in systemic lupus erythematosus

Ann Rheum Dis. 2025 Oct;84(10):1621-1631

Wilson disease A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases

Hepatology. 2023 Apr 1;77(4):1428-1455

Epidemiology

IgG4-related sclerosing cholangitis/

Primary biliary cholangitis/

Primary sclerosing cholangitis Epidemiological and economical burden of cholestatic liver disease

Hepatology. 2025 Oct 1;82(4):813-833

Functional Impact

Acute lymphoblastic leukemia/

Acute myeloid leukemia High Prevalence of Psychological Symptoms, Sexual Dysfunction, and Prolonged Medical Leave Two Years After Acute Leukemia Diagnosis—Patient Reported Outcome in Sweden

EJHaem. 2025 Sep 2;6(5):e70142

Desmoid tumor The impact of desmoid tumors: insights from the Desmoid Tumor Research Foundation Natural History Study, 2017–2023

Orphanet J Rare Dis. 2025 Oct 14;20(1):515

Hodgkin lymphoma/

Non-Hodgkin lymphoma Effects of an Electronic Patient Reported Outcome Measures (e-PROMs) Program on Symptom Reporting, Use of Healthcare, and Overall Survival in Patients With Lymphoma: A Multicenter Prospective Study

EJHaem. 2025 Sep 3;6(5):e70129

Osteogenesis imperfecta Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study

Orphanet J Rare Dis. 2025 Oct 23;20(1):537

Summary of the edition of 10 February 2026

Editorial
Political news
Scientific news
And also...

Edition of 10 February 2026

New Syndromes

ERCC1 variants cause a hepatorenal syndrome

POC5 variants cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

RREB1 variants cause a congenital heart disease, genitourinary malformations, and developmental delay

SNAPIN variants cause a prenatal-onset neurodevelopement disorder

New Genes

Cranioectodermal dysplasia: Identification of a homozygous variant in CILK1

Rare non-syndromic intellectual disability: Identification of heterozygous variants in TMEM184B

Von Willebrand disease type 1: Identification of biallelic variants in MADD

Clinical Research

Differentiated thyroid carcinoma: Improvement of the mortality risk classification of the American Joint Committee on Cancer by integrating the genetic statuses of BRAF and TERTp (international, multicentre, retrospective cohort study)

T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency: Sustained clinical efficacy and safety of autologous CD34+ hematopoietic stem-cell lentiviral gene therapy

Other publications

*****

*****

*****

*****

*****

*****

Therapeutic Approaches

Alagille syndrome: Proof of principle for postnatal AAV-mediated Sox4 knockdown in thyroxine-binding globulin+ cells as a therapeutic approach for liver disease

Fibrodysplasia ossificans progressiva: RK783, a BMP type 1 receptor kinase inhibitor as an acute medication to prevent genetically induced heterotopic ossification in mouse models

Muscular dystrophy: Preclinical quality, safety, and efficacy of the first iPSC-derived tissue-specific stem cell therapy

Other publications

Biomarkers

Congenital hypogonadotropic hypogonadism: High predictive value of serum FSH combined with inhibin B or anti-Müllerian hormone to distinguish the disease to self-limited delayed puberty in adolescent males

Primary Sjögren disease: Deep flow cytometry immunophenotyping of B and T cell compartments, coupled with clinical, biologic, and histopathologic data analysis, to determine new biomarkers predictive of non-Hodgkin lymphoma

Other publications

Diagnostic Approaches

Congenital myasthenic syndrome: Importance of genetic testing by whole-exome sequencing in seronegative patients

Other publications

Neonatal Screening

Gene-specific assessment of variant prioritization to establish analytical validity prior to inclusion in genomic newborn screening

Other publications

Patient Management and Therapy

Cystic fibrosis: Systematic review of CRISPR-based technologies, strategy design, efficiency of correction or editing, functional restoration, and off-target editing and other editing byproducts

Duchenne muscular dystrophy: Overview of recent progress and challenges in AAV-microdystrophin therapeutics development

Cholestatic liver diseases: Review of the patient journey focused on the timing of liver transplantion and peritransplant management

Proximal spinal muscular atrophy: Review of advanced therapies approved, and the rationale, options and challenges, including ethical and safety issues, to initiate in utero therapy

Other publications

Recommendations

Autoimmune hepatitis: Comprehensive, evidence-based update of the British Society of Gastroenterology's guidelines for diagnosis, assessment of disease severity, and all aspects of disease management

Gaucher disease: French National Diagnosis and Care Protocol to provide health care professionals with guidance for the optimal management and care of patients

Mastocytosis: Compendium of evidence-based French recommendations on current optimal diagnostic, management and care recommendations for adult patients

Other publications

Epidemiology

Functional Impact

Summary of the edition of 10 February 2026

Editorial

Political news

Scientific news

And also...