How to Learn about the Genetics of Rare Diseases and Research Breakthroughs?
Positively Impacting Inherited Disease Research
COMMENTS
Human Molecular Genetics and Genomics
Genomic research has evolved from seeking to understand the fundamentals of the human genetic code to examining the ways in which this code varies among people, and then applying this knowledge to ...
Rare Genetic Diseases: Nature's Experiments on Human Development
Rare genetic diseases disproportionately affect the nervous system of children with devastating effects. Paradoxically, the majority of the disease-causing genes affecting the child belong to genes present from the last common eukaryote and ubiquitously expressed in human tissues. ... Groft S.C. A global approach to rare diseases research and ...
Disease genetics
DYRK1A gene linked to heart defects in Down syndrome. A study shows that congenital heart defects in Down syndrome are in part caused by increased dosage of the DYRK1A gene, which lies on ...
The genetic basis of disease
Cell cycle The process by which a cell divides into two cells. The cycle usually follows the four stages: G 1 (gap or growth 1), S (synthesis of DNA), G 2 (gap or growth 2), finally mitosis (note in meiosis, the cell cycle follows a different pattern, as described below). G 1, S and G 2 together make up 'interphase'.
A brief history of human disease genetics
A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 ...
Genes & Diseases
Genes & Diseases is a journal for molecular and translational medicine. The journal primarily focuses on publishing investigations on the molecular bases and experimental therapeutics of human diseases. Publication formats include full length research article, review article, …. View full aims & scope. $2500.
Decoding disease: from genomes to networks to phenotypes
Quantitative genetics studies have clearly shown that most complex human diseases involve contributions from multiple genetic variants, but there remains a 'missing heritability' problem: only ...
2022: a pivotal year for diagnosis and treatment of rare genetic diseases
The year 2022 will be important in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals. This perspective did not do justice to the breadth of clinical decision support tools, implementation projects, or legislative coverage decisions that are underway.
PLOS Genetics
Genomic analyses of Symbiomonas scintillans show no evidence for endosymbiotic bacteria but does reveal the presence of giant viruses. A multi-gene tree showed the three SsV genome types branched within highly supported clades with each of BpV2, OlVs, and MpVs, respectively. Image credit: pgen.1011218. 03/28/2024. Research Article.
The genetic basis of disease
Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and ...
(PDF) The genetic basis of disease
This review explores. the genetic basis of human disease, including single gene disorders, chromosomal imbal-. ances, epigenetics, cancer and complex disorders, and considers how our understanding ...
Frontiers
1 Human Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra, ... a higher burden of rare recessive genetic diseases is expected and supported by the literature findings that endogamy is highly detrimental to health as it enhances the degree of homozygosity of recessive alleles in the general population ...
Genetics research
Genetics research articles from across Nature Portfolio. Genetics research is the scientific discipline concerned with the study of the role of genes in traits such as the development of disease ...
Special Issue : Bioinformatics and Genetics of Human Diseases
Feature papers represent the most advanced research with significant potential for high impact in the field. ... in genome data and methodology have accelerated the identification of candidate genes and associated variants in human genetic diseases. ... NRXN1 and its binding partner neuroligin have been associated with deficits in cognition ...
Genetics of neurodegenerative diseases: an overview
Genetics plays an essential role in translational research, ultimately aiming to develop novel disease-modifying therapies for neurodegenerative disorders. We anticipate that individual genetic profiling will also be increasingly relevant in a clinical context, with implications for patient care in line with the proposed ideal of personalized ...
Genetic Testing for Rare Diseases: A Systematic Review of Ethical
Genetic testing is associated with many ethical challenges on the individual, organizational and macro level of health care systems. The provision of genetic testing for rare diseases in particular requires a full understanding of the complexity and multiplicity of related ethical aspects. This systematic review presents a detailed overview of ...
Genetics Research
Genetics Research is a fully open access journal providing a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic ...
(PDF) Human genetic disorders
Genetic disorders are of different types i.e. single-gene. disorders, chromosomal disorders, complex disorder s. This paper intends to be as an introductory paper for the project "Human genetic ...
Rare diseases, common challenges
The genetics community has a particularly important part to play in accelerating rare disease research and contributing to improving diagnosis and treatment. Innovations in sequencing technology ...
Genetics Basics
This can lead to disease. Some genetic changes can be passed on from parent to child (inherited). These genetic changes occur in the germ cells, which are the cells that create sperm or eggs. Genetic changes that occur in the other cells in the body (known as somatic cells) do not get passed on to a person's children.
A brief history of human disease genetics
A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by ...
Groundbreaking study connects genetic risk for autism to changes
A groundbreaking study has unveiled the most detailed view of the complex biological mechanisms underlying autism, showing the first link between genetic risk of the disorder to observed cellular ...
Risk of 'genetic discrimination' by insurance companies is ruining
Human genomic research holds promise for the development of cures and treatments for cancers and heritable diseases. To achieve this, researchers rely on people willingly donating their genomic data.
Genetic ancestry contributes to gene expression in the brain
Gene expression. By using genetic admixture in the multi-omic analysis of postmortem brains from Black Americans, we show that genetic ancestry influences gene expression in the brain. Notably, we ...
Winter survival in red clover: experimental evidence for interactions
Survival rate of red clover from different growth treatments after inoculation with Sclerotinia trifoliorum and incubation under artificial snow cover at 3 °C in experiment 1 (A) and at 16 °C (B) or 3 °C (C) in experiment 2.Averages of 9 (A) and 12 (B, C) populations are shown (see Table 2 for an overview). NA-YOUNG, NA and NA-OLD; non-acclimated plants that were 6, 7 or 9 weeks old ...
Ethical Issues in Genetics and Infectious Diseases Research: An
This paper presents results of an issue-spotting exercise conducted by experts in the ethics, law, and science of genetics and infectious diseases (ID). The exercise focused on the collection, storage and sharing of genetic data relating to ID, highlighting ELSIs that differ in important ways from issues in genetics and non-transmissible disease.
Genetics of diabetes and diabetes complications
Introduction. Diabetes, a disease of the endocrine system diagnosed by abnormally high blood glucose levels, is one of the most common and fastest growing diseases worldwide, projected to affect 693 million adults by 2045, 1 a >50% increase from 2017. Vascular complications of both the macro- and microvascular systems (cardiovascular disease [CVD], diabetic kidney disease [DKD], diabetic ...
IMAGES
VIDEO
COMMENTS
Genomic research has evolved from seeking to understand the fundamentals of the human genetic code to examining the ways in which this code varies among people, and then applying this knowledge to ...
Rare genetic diseases disproportionately affect the nervous system of children with devastating effects. Paradoxically, the majority of the disease-causing genes affecting the child belong to genes present from the last common eukaryote and ubiquitously expressed in human tissues. ... Groft S.C. A global approach to rare diseases research and ...
DYRK1A gene linked to heart defects in Down syndrome. A study shows that congenital heart defects in Down syndrome are in part caused by increased dosage of the DYRK1A gene, which lies on ...
Cell cycle The process by which a cell divides into two cells. The cycle usually follows the four stages: G 1 (gap or growth 1), S (synthesis of DNA), G 2 (gap or growth 2), finally mitosis (note in meiosis, the cell cycle follows a different pattern, as described below). G 1, S and G 2 together make up 'interphase'.
A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 ...
Genes & Diseases is a journal for molecular and translational medicine. The journal primarily focuses on publishing investigations on the molecular bases and experimental therapeutics of human diseases. Publication formats include full length research article, review article, …. View full aims & scope. $2500.
Quantitative genetics studies have clearly shown that most complex human diseases involve contributions from multiple genetic variants, but there remains a 'missing heritability' problem: only ...
The year 2022 will be important in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals. This perspective did not do justice to the breadth of clinical decision support tools, implementation projects, or legislative coverage decisions that are underway.
Genomic analyses of Symbiomonas scintillans show no evidence for endosymbiotic bacteria but does reveal the presence of giant viruses. A multi-gene tree showed the three SsV genome types branched within highly supported clades with each of BpV2, OlVs, and MpVs, respectively. Image credit: pgen.1011218. 03/28/2024. Research Article.
Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and ...
This review explores. the genetic basis of human disease, including single gene disorders, chromosomal imbal-. ances, epigenetics, cancer and complex disorders, and considers how our understanding ...
1 Human Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra, ... a higher burden of rare recessive genetic diseases is expected and supported by the literature findings that endogamy is highly detrimental to health as it enhances the degree of homozygosity of recessive alleles in the general population ...
Genetics research articles from across Nature Portfolio. Genetics research is the scientific discipline concerned with the study of the role of genes in traits such as the development of disease ...
Feature papers represent the most advanced research with significant potential for high impact in the field. ... in genome data and methodology have accelerated the identification of candidate genes and associated variants in human genetic diseases. ... NRXN1 and its binding partner neuroligin have been associated with deficits in cognition ...
Genetics plays an essential role in translational research, ultimately aiming to develop novel disease-modifying therapies for neurodegenerative disorders. We anticipate that individual genetic profiling will also be increasingly relevant in a clinical context, with implications for patient care in line with the proposed ideal of personalized ...
Genetic testing is associated with many ethical challenges on the individual, organizational and macro level of health care systems. The provision of genetic testing for rare diseases in particular requires a full understanding of the complexity and multiplicity of related ethical aspects. This systematic review presents a detailed overview of ...
Genetics Research is a fully open access journal providing a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic ...
Genetic disorders are of different types i.e. single-gene. disorders, chromosomal disorders, complex disorder s. This paper intends to be as an introductory paper for the project "Human genetic ...
The genetics community has a particularly important part to play in accelerating rare disease research and contributing to improving diagnosis and treatment. Innovations in sequencing technology ...
This can lead to disease. Some genetic changes can be passed on from parent to child (inherited). These genetic changes occur in the germ cells, which are the cells that create sperm or eggs. Genetic changes that occur in the other cells in the body (known as somatic cells) do not get passed on to a person's children.
A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by ...
A groundbreaking study has unveiled the most detailed view of the complex biological mechanisms underlying autism, showing the first link between genetic risk of the disorder to observed cellular ...
Human genomic research holds promise for the development of cures and treatments for cancers and heritable diseases. To achieve this, researchers rely on people willingly donating their genomic data.
Gene expression. By using genetic admixture in the multi-omic analysis of postmortem brains from Black Americans, we show that genetic ancestry influences gene expression in the brain. Notably, we ...
Survival rate of red clover from different growth treatments after inoculation with Sclerotinia trifoliorum and incubation under artificial snow cover at 3 °C in experiment 1 (A) and at 16 °C (B) or 3 °C (C) in experiment 2.Averages of 9 (A) and 12 (B, C) populations are shown (see Table 2 for an overview). NA-YOUNG, NA and NA-OLD; non-acclimated plants that were 6, 7 or 9 weeks old ...
This paper presents results of an issue-spotting exercise conducted by experts in the ethics, law, and science of genetics and infectious diseases (ID). The exercise focused on the collection, storage and sharing of genetic data relating to ID, highlighting ELSIs that differ in important ways from issues in genetics and non-transmissible disease.
Introduction. Diabetes, a disease of the endocrine system diagnosed by abnormally high blood glucose levels, is one of the most common and fastest growing diseases worldwide, projected to affect 693 million adults by 2045, 1 a >50% increase from 2017. Vascular complications of both the macro- and microvascular systems (cardiovascular disease [CVD], diabetic kidney disease [DKD], diabetic ...