A5070615077- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- RNA Research and Splicing
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Nutrition and Health Studies
- Ion channel regulation and function
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Cancer-related gene regulation
- Ion Channels and Receptors
- Hedgehog Signaling Pathway Studies
- Retinal Development and Disorders
- Cardiac Structural Anomalies and Repair
- Advancements in Materials Engineering
- Nutrition, Genetics, and Disease
- PI3K/AKT/mTOR signaling in cancer
- Ocular Disorders and Treatments
- Cancer-related Molecular Pathways
- Public health and occupational medicine
- Renal and related cancers
- Bone and Dental Protein Studies
- Genomic variations and chromosomal abnormalities
- Wnt/β-catenin signaling in development and cancer
Children's Memorial Health Institute
2016-2025
Genomed (Poland)
2023-2024
Medical University of Warsaw
2022-2023
Mossakowski Medical Research Institute, Polish Academy of Sciences
2012-2021
Polish Academy of Sciences
2009-2021
Roche (Switzerland)
2021
Children's Health Ireland at Crumlin
2021
Wojskowy Instytut Medyczny
2001-2003
Abstract Background Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or motor disability. New therapies have been developed in recent years that change natural history disease. The aim this study describe patients included Polish Registry SMA, with a focus on course type 3 SMA (SMA3) before availability disease-modifying treatments. Results 790 were registry (173 1 [SMA1], 218 2 [SMA2], 393 SMA3, six 4 [SMA4]), (52%) whom...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. It characterized significant phenotype variability. In this study, we analyzed possible modifiers disease - size deletion in SMA region, number SMN2 gene copies, as well effect gender. Among factors analyzed, two seem to influence phenotype: copies and a NAIP A higher makes clinical symptoms more benign, associated with severe phenotype. The gender remains unclear. group 1039...
Mutations in the COL12A1 (collagen, type XII, alpha 1) gene have been described a milder Bethlem-like myopathy 6 patients from 3 families (dominant missense), and severe congenital form with failure to attain ambulation 2 single pedigree (recessive loss-of-function).We describe an 8-year-old girl of Polish origin who presented profound hypotonia joint hyperlaxity at birth after pregnancy complicated by oligohydramnios intrauterine growth retardation.We identified novel, potentially...
Advances in gene therapy and genome editing give hope that new treatments will soon be available for inherited eye diseases together affect a significant proportion of the adult population. New solutions are needed to make genetic diagnosis fast affordable. This is first study such large group patients with retinal dystrophies (IRD) optic neuropathies (ION) Polish It based on four years diagnostic analysis using broad, targeted NGS approach. The results include most common pathogenic...
Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction ID patients remains without diagnosis.Here, prospective study on cohort 21 families (trios) with child presenting unknown etiology, we executed phenotype-driven bioinformatic analysis method, PhenIX, utilizing targeted next-generation...
The majority of individuals with spinal muscular atrophy (SMA) experience progressive skeletal deformities which may affect the quality life and mobility. To date, no studies have evaluated reliability tests assessing body posture joint mobility in SMA patients. purpose this study was to assess Cervical Rotation test (CR), Supine Angle Trunk (SATR), Hip Extension (HE) Pelvic Obliquity (PO) developed evaluate musculoskeletal system individuals. Thirty (12 girls 18 boys) aged 4–15 type II (n =...
Survival Motor Neuron 1 (SMN1) is a causative gene for autosomal recessive infantile and juvenile proximal spinal muscular atrophy. SMN1 duplications have recently been found to increase susceptibility amyotrophic lateral sclerosis. The role of centromeric SMN copy (SMN2) has postulated in progressive atrophy (PMA). aim this study was analyse the SMN2 number variations patients with PMA. genotype studied 87 PMA, diagnosed at Department Neurology, Medical University Warsaw, between 1992 2012...
ABSTRACT Introduction : Mutations in the TRPV4 gene are associated with neuromuscular disorders and skeletal dysplasias, which present a phenotypic overlap. Methods Next‐generation sequencing Sanger were used to analyze gene. Results We 2 Polish families ‐related disorder harboring same p.Arg269His mutation. The disease expression was extremely variable (from mild scapular winging severe hypotonia, global weakness, inability walk unaided, congenital contractures, scoliosis, respiratory...
Cornelia de Lange syndrome (CDLS) is a clinically and genetically heterogeneous developmental disorder characterized by multiple malformations. Primarily, affected individuals have unique recognizable dysmorphic facial features, cleft palate, distal limb defects, growth retardation, delay. However, also milder, as well slightly phenotypically different forms exist. We described herein patient with CDLS5, an X-linked form, caused mutations in the HDAC8 gene inherited form mosaic mother....
Myofibrillar myopathies (MFM) are heterogeneous hereditary muscle diseases with characteristic myopathological features of Z-disk dissolution and aggregates its degradation products. The onset progression the disease variable, an elusive genetic background, around half cases lacking molecular diagnosis. Here, we attempted to establish possible foundations MFM by performing whole exome sequencing (WES) in eleven unrelated families 13 patients clinically diagnosed as spectrum. A filtering...
PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and involved various mechanotransduction pathways. The recessive loss-of-function pathogenic variants are associated with distal arthrogryposis impaired proprioception touch (DAIPT). Here we present three new DAIPT patients. genetic diagnosis was established by exome sequencing let us to identify 6 novel variants: four splicing (c.1080+1G>A, c.4092+1G>T,...
Abstract Background Musculoskeletal disorders are often observed in patients with spinal muscular atrophy (SMA). The aim of the study was to assess passive ranges rotation cervical spine, chest deformity and pelvic obliquity SMA patients, compare these results norms obtained group healthy individuals. second review measurements Cobb angle values for correlations patients. Methods included 74 89 individuals aged 2 18 years. Cervical Rotation (CR), Supine Angle Trunk (SATR) Pelvic Obliquity...