Human Disease Ontology, www.disease-ontology.org
Standardized descriptions of human disease that improve capture and communication of health-related data across biomedical resources.
Human Disease Ontology Project presented at ISB's Biocurator meeting April 2014Lynn Schriml
The Human Disease Ontology (DO), organized as a directed acyclic graph, represents a knowledge base of inherited, environmental, infectious diseases (http://www.disease-ontology.org). DO's textual definition model incorporates a semi-structured format describing the disease etiology built to capture the complex nature of human disease etiology within a is_a hierarchy. DO includes disease concepts for cancer, metabolic disease, infectious disease, mental disorders, genetic disease and syndromes. DO contains disease definitions, external references to resources including ICD, NCI-metathesaurus, SNOMED, MeSH and OMIM and extended relationships that conform to OBO guidelines. DO provides a central ‘switchboard’ for connecting resources, datasets, and computational tools that include disease terms or relationships.
OMIM Integration in Human Disease OntologyLynn Schriml
Genetic diseases in the Human Disease Ontology are cross mapped to OMIM (www.omim.org). Here we present the process on data integration and management for coordinating data updates across resources.
Human Disease Ontology Project presented at ISB's Biocurator meeting April 2014Lynn Schriml
The Human Disease Ontology (DO), organized as a directed acyclic graph, represents a knowledge base of inherited, environmental, infectious diseases (http://www.disease-ontology.org). DO's textual definition model incorporates a semi-structured format describing the disease etiology built to capture the complex nature of human disease etiology within a is_a hierarchy. DO includes disease concepts for cancer, metabolic disease, infectious disease, mental disorders, genetic disease and syndromes. DO contains disease definitions, external references to resources including ICD, NCI-metathesaurus, SNOMED, MeSH and OMIM and extended relationships that conform to OBO guidelines. DO provides a central ‘switchboard’ for connecting resources, datasets, and computational tools that include disease terms or relationships.
OMIM Integration in Human Disease OntologyLynn Schriml
Genetic diseases in the Human Disease Ontology are cross mapped to OMIM (www.omim.org). Here we present the process on data integration and management for coordinating data updates across resources.
Biology Molecular
University of Haifa. (2015, August 13). Big data and the social character of genes. ScienceDaily. Retrieved September 12, 2015 from www.sciencedaily.com/releases/2015/08/150813084035.htm
Lawrence Berkeley National Laboratory. (2015, August 4). Keeping algae from stressing out. ScienceDaily. Retrieved September 12, 2015 from www.sciencedaily.com/releases/2015/08/150804144013.htm
Martínez Sánchez, Lina María. Biología Molecular. 8.ed. Medellín. UPB. Facultad de Medicina.
Presentation on the influence and correlations between metastasis of a tumor and expression of heparanase by malignant cells. Molecular mechanism of action is still unknown but data suggests that heparanase decreases integrity of extracellular matrix, increasing probability of metastasis.
Mutations of oncogenes or inhibitors of oncogenes can lead to
the emergence of isolated dormant malignant tumor cells, but only rare are sufficient for inducing an active malignant tumor growth, i.e., for appearance cancer as illness. Will or will not occur the active growth of malignant tumor depends in essence on the condition of reparative-regenerative systems of a particular organ and the whole organism
2nd International Conference on Clinical Microbiology & Microbial Genomics, will be organized around the theme "To Encompass Emerging Trends in Clinical Microbiology".
2nd International Conference and Exhibition on Pathology, will be organized around the theme "To Stimulate the Technology in Pathology for Scientific Excellence"
Cytogenetic an Experimental Monitoring Test for Plant ExtractsIOSRJPBS
More than two centuries have been passed since the chromosomes have been firstly observed in plant cells by Nageli in 1842. During this long period, chromosomes have been discovered in human cells and well recognized as a source of genes locations. The effects of chemicals and environmental pollution in human health and caners became an interested field of studying diver mutagens and their role in affecting the genetic materials. Cytogenetic tests were the main tools to evaluate the effects of those mutagens on human genome and chromosomes. Many techniques have been used for these purposes including in vitro and in vivo analyzing tests using human and animal cells. The intent of this article is to review the role of cytogenetic techniques in detecting the effects of mutagens on chromosomal aberrations and the role of plant extracts in monitoring these effects
Biology Molecular
University of Haifa. (2015, August 13). Big data and the social character of genes. ScienceDaily. Retrieved September 12, 2015 from www.sciencedaily.com/releases/2015/08/150813084035.htm
Lawrence Berkeley National Laboratory. (2015, August 4). Keeping algae from stressing out. ScienceDaily. Retrieved September 12, 2015 from www.sciencedaily.com/releases/2015/08/150804144013.htm
Martínez Sánchez, Lina María. Biología Molecular. 8.ed. Medellín. UPB. Facultad de Medicina.
Presentation on the influence and correlations between metastasis of a tumor and expression of heparanase by malignant cells. Molecular mechanism of action is still unknown but data suggests that heparanase decreases integrity of extracellular matrix, increasing probability of metastasis.
Mutations of oncogenes or inhibitors of oncogenes can lead to
the emergence of isolated dormant malignant tumor cells, but only rare are sufficient for inducing an active malignant tumor growth, i.e., for appearance cancer as illness. Will or will not occur the active growth of malignant tumor depends in essence on the condition of reparative-regenerative systems of a particular organ and the whole organism
2nd International Conference on Clinical Microbiology & Microbial Genomics, will be organized around the theme "To Encompass Emerging Trends in Clinical Microbiology".
2nd International Conference and Exhibition on Pathology, will be organized around the theme "To Stimulate the Technology in Pathology for Scientific Excellence"
Cytogenetic an Experimental Monitoring Test for Plant ExtractsIOSRJPBS
More than two centuries have been passed since the chromosomes have been firstly observed in plant cells by Nageli in 1842. During this long period, chromosomes have been discovered in human cells and well recognized as a source of genes locations. The effects of chemicals and environmental pollution in human health and caners became an interested field of studying diver mutagens and their role in affecting the genetic materials. Cytogenetic tests were the main tools to evaluate the effects of those mutagens on human genome and chromosomes. Many techniques have been used for these purposes including in vitro and in vivo analyzing tests using human and animal cells. The intent of this article is to review the role of cytogenetic techniques in detecting the effects of mutagens on chromosomal aberrations and the role of plant extracts in monitoring these effects
Role of genetics in periodontal diseasesAnushri Gupta
Terminologies in Genetics
Genetic study design
genetic syndrome and disease associated with periodontal diseases, heretibility of periodontal disease, gene library, gene therapy
SILS 2015 - Connecting Precision Medicine to Precision Wellness Sherbrooke Innopole
By: Joel Dudley, Mount Sinai School of Medicine
At Sherbrooke International Life Sciences Summit - 2nd edition | September 28/29/30 2015
www.sils-sherbrooke.com
Slide 1: Title Slide
Extrachromosomal Inheritance
Slide 2: Introduction to Extrachromosomal Inheritance
Definition: Extrachromosomal inheritance refers to the transmission of genetic material that is not found within the nucleus.
Key Components: Involves genes located in mitochondria, chloroplasts, and plasmids.
Slide 3: Mitochondrial Inheritance
Mitochondria: Organelles responsible for energy production.
Mitochondrial DNA (mtDNA): Circular DNA molecule found in mitochondria.
Inheritance Pattern: Maternally inherited, meaning it is passed from mothers to all their offspring.
Diseases: Examples include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy.
Slide 4: Chloroplast Inheritance
Chloroplasts: Organelles responsible for photosynthesis in plants.
Chloroplast DNA (cpDNA): Circular DNA molecule found in chloroplasts.
Inheritance Pattern: Often maternally inherited in most plants, but can vary in some species.
Examples: Variegation in plants, where leaf color patterns are determined by chloroplast DNA.
Slide 5: Plasmid Inheritance
Plasmids: Small, circular DNA molecules found in bacteria and some eukaryotes.
Features: Can carry antibiotic resistance genes and can be transferred between cells through processes like conjugation.
Significance: Important in biotechnology for gene cloning and genetic engineering.
Slide 6: Mechanisms of Extrachromosomal Inheritance
Non-Mendelian Patterns: Do not follow Mendel’s laws of inheritance.
Cytoplasmic Segregation: During cell division, organelles like mitochondria and chloroplasts are randomly distributed to daughter cells.
Heteroplasmy: Presence of more than one type of organellar genome within a cell, leading to variation in expression.
Slide 7: Examples of Extrachromosomal Inheritance
Four O’clock Plant (Mirabilis jalapa): Shows variegated leaves due to different cpDNA in leaf cells.
Petite Mutants in Yeast: Result from mutations in mitochondrial DNA affecting respiration.
Slide 8: Importance of Extrachromosomal Inheritance
Evolution: Provides insight into the evolution of eukaryotic cells.
Medicine: Understanding mitochondrial inheritance helps in diagnosing and treating mitochondrial diseases.
Agriculture: Chloroplast inheritance can be used in plant breeding and genetic modification.
Slide 9: Recent Research and Advances
Gene Editing: Techniques like CRISPR-Cas9 are being used to edit mitochondrial and chloroplast DNA.
Therapies: Development of mitochondrial replacement therapy (MRT) for preventing mitochondrial diseases.
Slide 10: Conclusion
Summary: Extrachromosomal inheritance involves the transmission of genetic material outside the nucleus and plays a crucial role in genetics, medicine, and biotechnology.
Future Directions: Continued research and technological advancements hold promise for new treatments and applications.
Slide 11: Questions and Discussion
Invite Audience: Open the floor for any questions or further discussion on the topic.
Comparing Evolved Extractive Text Summary Scores of Bidirectional Encoder Rep...University of Maribor
Slides from:
11th International Conference on Electrical, Electronics and Computer Engineering (IcETRAN), Niš, 3-6 June 2024
Track: Artificial Intelligence
https://www.etran.rs/2024/en/home-english/
This pdf is about the Schizophrenia.
For more details visit on YouTube; @SELF-EXPLANATORY;
https://www.youtube.com/channel/UCAiarMZDNhe1A3Rnpr_WkzA/videos
Thanks...!
Unveiling the Energy Potential of Marshmallow Deposits.pdf
Disease Ontology: Improvements for Clinical Care and Research Applications
1. Disease Ontology:
Improvements for Clinical Care and Research Applications
Linda Jeng, M.D., Ph.D., Carol Greene, M.D.,
Michelle Giglio, Ph.D., Lynn Schriml, Ph.D.
ABSTRACT
The Human Disease Ontology (DO) provides
standardized descriptions of human disease through a
controlled vocabulary of terms that improve capture
and communication of health-related data across
multiple resources. As knowledge grows on how
interactions between genetic and environmental
factors lead to human disease, there is a need to
incorporate genetic and environmental information
into the DO. In addition, the DO is being expanded to
associate diseases with organ systems. These efforts
are made more challenging by the pleiotropy of
genetic diseases and the multi-organ impact of
environmental conditions. To this end, we are
beginning work in this area with the following specific
cases: 1) Prader-Willi syndrome, which can be a
chromosomal deletion, a methylation defect or a single
gene disorder, 2) alpha 1-antitrypsin deficiency, which
has variable expression and critical contributions from
environmental factors, 3) chromosome 22q11.2
deletion syndrome, which has one etiology for multiple
clinical diseases, but those diseases can also have
other etiologies, and 4) cystic fibrosis, which involves
multiple organ systems in a single disorder. This work
will be facilitated through increased collaborations
with clinicians. Accomplishment of DO enhancements
for the above cases will enable the development of
standard procedures to incorporate genetic and
environmental components, and thus allow rapid
expansion to other conditions. These enhancements
will improve the utility of the Human Disease Ontology
in clinical care. CONCLUSIONS
These enhancements will:
1. Enable development of
standard procedures to
incorporate genetic and
environmental components.
2. Allow rapid expansion to
include other conditions.
3. Improve the utility of the
Human Disease Ontology in
clinical care.
METHODS
• Incorporate genetic and
environmental information
• Associate diseases with organ
systems and cell types
INITIAL CASE RESULTS
• Prader-Willi syndrome
www.disease-ontology.org
BACKGROUND
DO’s Past Role:
Bridging knowledge between clinical
vocabularies and biomedical research.
disease
genetic
disease
monogenic
disease
chromosomal
disease
epigenetic
methylation
post-
translational
syndrome
Current
Future
CLINICAL TEAM GOALS
• Develop alternative disease
classification for complex genetic
diseases
• Incorporate multi-factorial genetic
etiology information into the DO
• Incorporate environmental
triggers/risk factors into the DO
• Develop a novel differential
diagnosis disease ontology
FUNDING
NIH/NHGRI U41 HG008735-01A1
NIH/NIGMS R01 GM089820
NIH/NHGRI U41 BD2K Administrative Supplement,
2U41HG000330-28