A5027244211- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics, Aging, and Longevity in Model Organisms
- Prenatal Screening and Diagnostics
- Neurogenetic and Muscular Disorders Research
- Alkaline Phosphatase Research Studies
- Biochemical and Molecular Research
- Genetic Syndromes and Imprinting
- Bioinformatics and Genomic Networks
- Circadian rhythm and melatonin
- Heterotopic Ossification and Related Conditions
- Neurobiology and Insect Physiology Research
- Biochemical Analysis and Sensing Techniques
- Computational Drug Discovery Methods
- melanin and skin pigmentation
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Monoclonal and Polyclonal Antibodies Research
- Congenital Anomalies and Fetal Surgery
- Ethics and Legal Issues in Pediatric Healthcare
- Machine Learning in Bioinformatics
- Neuroendocrine regulation and behavior
- thermodynamics and calorimetric analyses
- Regulation of Appetite and Obesity
- Physiological and biochemical adaptations
Alexion Pharmaceuticals (United States)
2022-2025
AstraZeneca (United States)
2022-2025
Alexion Pharma (Switzerland)
2024
AstraZeneca (Brazil)
2024
Jazz Pharmaceuticals (United States)
2019
Rhythm (United states)
2019
Genomic Prediction (United States)
2018-2019
University of Rochester
2012
Preimplantation genetic testing (PGT) has been successfully applied to reduce the risk of miscarriage, improve IVF success rates, and prevent inheritance monogenic disease unbalanced translocations. The present study provides first method capable simultaneous aneuploidy (PGT-A), structural rearrangements (PGT-SR), (PGT-M) disorders using a single platform. Using positive controls establish performance characteristics, accuracies 97 >99% for each type were observed. In addition, this expands...
Abstract Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue‐nonspecific alkaline phosphatase activity due to ALPL gene variants. We describe variants from the observational, prospective, multinational Global HPP Registry. Inclusion in analysis required diagnosis of HPP, serum ALP activity, and ≥1 variant. Of 1176 patients enrolled as September 2022, 814 met inclusion criteria Europe (48.9%), North America (36.7%), Japan (10.2%), Australia (2.6%),...
Sex differences in shared behaviors (for example, locomotion and feeding) are a nearly universal feature of animal biology. Though these may share underlying neural programs, their kinematics can exhibit robust between males females. The underpinnings poorly understood because the often-untested assumption that they determined by sex-specific body morphology. Here, we address this issue nematode Caenorhabditis elegans, which features two sexes with distinct morphologies but similar locomotor...
Background Hypophosphatasia (HPP) is a rare metabolic disease caused by autosomal dominant or recessive inheritance of ALPL variants resulting in low alkaline phosphatase activity. The objective this analysis was to compare HPP burden between patients with non-life-threatening the Global Registry who have one variant versus two more variants. Methods Patients were included if they had identified through genetic testing and first manifestations after 6 months age. Assessments history...
Animals prioritize behaviors according to their physiological needs and reproductive goals, selecting a single behavioral strategy from repertoire of possible responses any given stimulus. Biological sex influences this decision-making process in significant ways, differentiating the animals choose when faced with stimuli ranging food conspecifics. We review here recent work invertebrate models, including C. elegans, Drosophila, variety insects, mollusks crustaceans, that has begun offer...
Defecation in the nematode worm Caenorhabditis elegans is a highly rhythmic behavior that regulated by Ca(2+) wave generated 20 epithelial cells of intestine, part through activation inositol 1,4,5-trisphosphate receptor. Execution defecation motor program (DMP) can be modified external cues such as nutrient availability or mechanical stimulation. To address likelihood environmental regulation DMP requires integrating distinct cellular and organismal processes, we have developed method for...
Newborn screening (NBS) dramatically improves outcomes in selected, severe, childhood disorders by identification and treatment at or before symptom onset. We are developing a highly scalable precision medicine delivery platform for all treatable preventable genetic diseases of early (Begin Genomic Screening, BeginNGS) based on rapid diagnostic genome sequencing (RGDS), artificial intelligence, the Genome to Treatment (GTRx) guidance system. Our goal is supplement standard state NBS BeginNGS...
Unraveling the human interactome to uncover disease-specific patterns and discover drug targets hinges on accurate protein-protein interaction (PPI) predictions. However, challenges persist in machine learning (ML) models due a scarcity of quality hard negative samples, shortcut learning, limited generalizability novel proteins. Here, we introduce approach for strategic sampling non-interactions (PPNIs) by leveraging higher-order network characteristics that capture inherent...
The limited amount of data available renders it challenging to characterize which biological processes are relevant a rare disease. Hence, there is need leverage the knowledge disease pathogenesis and treatment from wider landscape understand mechanisms. Furthermore, well understood that discoveries can inform our common diseases. In this paper, we introduce Dis2Vec (Disease Vector), new representation learning method for characterizing diseases with focus on underlying mechanisms, step...