Hanns Lochmüller
A5062908694- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Myasthenia Gravis and Thymoma
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Cellular transport and secretion
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Inflammatory Myopathies and Dermatomyositis
- Ion channel regulation and function
- Virus-based gene therapy research
- Nuclear Structure and Function
- RNA Research and Splicing
- Glycogen Storage Diseases and Myoclonus
- Hereditary Neurological Disorders
- Ubiquitin and proteasome pathways
- Biotin and Related Studies
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- Congenital Anomalies and Fetal Surgery
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Adipose Tissue and Metabolism
University of Ottawa
2018-2025
Ottawa Hospital
2018-2025
Children's Hospital of Eastern Ontario
2018-2025
University of Freiburg
2007-2025
Centro Nacional de Análisis Genómico
2018-2025
University Medical Center Freiburg
2018-2025
Ottawa Hospital Research Institute
2022-2025
Klinik für Neuropädiatrie und Muskelerkrankungen
2019-2025
Ottawa University
2025
GTx (United States)
2024
The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases—is used by thousands researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions clinical computable disease definitions have made HPO de facto standard for deep phenotyping in field rare disease. HPO's interoperability other ontologies has enabled it to be improve diagnostic accuracy incorporating model organism...
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, improved clinical care. Locus-specific databases allow collection, organization, storage, analysis genetic variants disease. Here, we describe development TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed data 7,149 held within database. A total 5,682 large were observed (80%...
The risk of cancer associated with a broad range organ doses was estimated in an international study women cervical cancer. Among 150,000 patients reported to one 19 population-based registries or treated any 20 oncology clinics, 4188 second cancers and 6880 matched controls were selected for detailed study. Radiation organs reconstructed each patient on the basis her original radiotherapy records. Very high doses, order several hundred gray, found increase bladder [relative (RR) = 4.0],...
Mutations in the gene coding for catalytic subunit of mitochondrial DNA (mtDNA) polymerase gamma (POLG1) have recently been described patients with diverse clinical presentations, revealing a complex relationship between genotype and phenotype their families. POLG1 was sequenced from different European diagnostic research centres to define phenotypic spectrum advance understanding recurrence risks. were identified 38 cases, majority being sporadic compound heterozygotes. Eighty-nine sequence...
Provision of a molecularly confirmed diagnosis in timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, fosters counseling respect to recurrence risks while assuring reproductive choices. In general clinical genetics setting, the current diagnostic rate is approximately 50%, but those who do not receive molecular after initial evaluation, that much lower. Diagnostic success these more challenging affected...
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families isolated myopathic phenotype of CoQ10 deficiency. The clinical, histological biochemical presentation our was very homogenous. All presented exercise intolerance, fatigue, proximal myopathy high serum CK. Muscle histology showed lipid accumulation subtle signs mitochondrial myopathy. Biochemical...
Objective: Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene.Based on randomized clinical trials in children with SMA type 1 and 2, Nusinersen has been approved as first treatment for all types SMA, including adults 3. Methods: We evaluated safety effects longstanding adult 5q-SMA Patients were treated intrathecal loading doses at day 1, 14, 28 63, followed maintenance dose every four months up to 300 days.We monitored...
Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period 16 months relatively large cohorts but whereas patients reach plateau over time is still be demonstrated. We investigated and safety SMA 38 months, longest date cohort from multiple clinical sites. Our prospective, observational study included adult Germany, Switzerland, Austria (July 2017 May 2022). All participants had genetically-confirmed, were treated...
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC a heterogeneous disorder currently linked to variants six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 ten individuals from seven families with autosomal recessive PFBC. The lead loss-of-function lack of protein N-terminal (Nt)-acetylation activity. We...
Genetic diagnosis of rare diseases requires accurate identification and interpretation genomic variants. Clinical molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree rare-disease data (94.5% exomes, 5.5% genomes), performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed 6,004 families. We established a collaborative, two-level review...
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold coverage HiFi long-read sequencing (LRS) for detecting causative structural (SVs), single-nucleotide (SNVs), insertion-deletions (indels), and short tandem repeat (STR) expansions studied families without clear molecular diagnosis. Our cohort includes 293 individuals from 114 genetically selected by European Reference...
Congenital myasthenic syndromes (CMSs) are a group of inherited disorders neuromuscular transmission characterized by fatigable muscle weakness. One major subgroup patients shows characteristic “limb girdle” pattern weakness, in which the muscles have small, simplified junctions but normal acetylcholine receptor and acetylcholinesterase function. We showed that recessive inheritance mutations Dok-7, result defective structure junction, is cause CMS with proximal