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 ...
Human Molecular Genetics and Genomics
Investigating expressed RNA variants that are related to disease severity in SARS-CoV-2-infected patients with mild-to-severe disease, Egyptian Journal of Medical Human Genetics, 23, 1, (2022 ...
Evidence for 28 genetic disorders discovered by combining ...
It has previously been estimated that around 42-48% of patients with a severe developmental disorder (DD) have a pathogenic de novo mutation (DNM) in a protein-coding gene 1, 2. However, most of ...
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 ...
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 ...
Children with a rare congenital genetic disorder: a systematic review
Rare disorders are medical conditions that affect less than 1:2000 individuals or fewer [].In the USA, a disease is considered rare if it affects less than 200, 000 (~ 1:1600) individuals [].Most rare disorders are associated with a genetic cause [].Although rare disorders are rare by definition, it has been estimated that a rare disorder affects as many as one in 16 people [].
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 ...
Human Genomics and Genetic Diseases
The section "Human Genomics and Genetic Diseases" covers the basic and translational aspects of human genetic and genomic research, from fundamental molecular investigation to preclinical animal models and clinical studies. In particular, this section aims to facilitate the rapid publication of innovative research encompassing the genetic ...
Genetics and genomics of psychiatric disease
The recent discoveries in psychiatric genetics follow technological advances in molecular biology and conceptual advances in the genetics of complex disorders (11, 12).By interrogating genetic variation at millions of single-nucleotide polymorphisms (SNPs) in the genome using microarrays, one can efficiently perform genome-wide association studies (GWASs) in thousands of individuals.
New approach successfully traces genomic variants back to genetic disorders
"We demonstrated that genotype-first research can work, especially for identifying people with rare disorders who otherwise might not have been brought to clinical attention," says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research Institute's (NHGRI) Reverse Phenotyping Core and first author of the paper.
(PDF) Human genetic disorders
Genetic disorders are of different types i.e. single-gene disorders, chromosomal disorders, complex disorders. This paper intends to be as an introductory paper for the project "Human genetic ...
Decoding disease: from genomes to networks to phenotypes
A systematic study by Huang et al. 158 evaluated 21 human interaction networks on their ability to predict disease genes and found ConsensusPathDB 159, GIANT 148 and STRING 147 to have the best ...
Genetic Disorders
A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage ...
New study maps a group of rare genetic diseases for the first time
"The study shows that 81% of patients have abnormal teeth, while 59% of patients have skin issues and 27% have nail issues. Approx. 1/3 of patients sweat less than normal, leading to a risk of ...
From genes to public health: are we ready for DNA-based ...
These include (1) a traditional genetic health-care model of services between genetics health-care providers and a patient's referring provider, (2) a nontraditional genetic health-care model ...
The effects of genetic and modifiable risk factors on brain regions
This genetic region plays a role in various neurodegenerative disorders related to mutations of the protein tau, such as frontotemporal dementia 28 and progressive supranuclear palsy 29, but also ...
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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 ...
Investigating expressed RNA variants that are related to disease severity in SARS-CoV-2-infected patients with mild-to-severe disease, Egyptian Journal of Medical Human Genetics, 23, 1, (2022 ...
It has previously been estimated that around 42-48% of patients with a severe developmental disorder (DD) have a pathogenic de novo mutation (DNM) in a protein-coding gene 1, 2. However, most of ...
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 ...
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 ...
Rare disorders are medical conditions that affect less than 1:2000 individuals or fewer [].In the USA, a disease is considered rare if it affects less than 200, 000 (~ 1:1600) individuals [].Most rare disorders are associated with a genetic cause [].Although rare disorders are rare by definition, it has been estimated that a rare disorder affects as many as one in 16 people [].
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 ...
The section "Human Genomics and Genetic Diseases" covers the basic and translational aspects of human genetic and genomic research, from fundamental molecular investigation to preclinical animal models and clinical studies. In particular, this section aims to facilitate the rapid publication of innovative research encompassing the genetic ...
The recent discoveries in psychiatric genetics follow technological advances in molecular biology and conceptual advances in the genetics of complex disorders (11, 12).By interrogating genetic variation at millions of single-nucleotide polymorphisms (SNPs) in the genome using microarrays, one can efficiently perform genome-wide association studies (GWASs) in thousands of individuals.
"We demonstrated that genotype-first research can work, especially for identifying people with rare disorders who otherwise might not have been brought to clinical attention," says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research Institute's (NHGRI) Reverse Phenotyping Core and first author of the paper.
Genetic disorders are of different types i.e. single-gene disorders, chromosomal disorders, complex disorders. This paper intends to be as an introductory paper for the project "Human genetic ...
A systematic study by Huang et al. 158 evaluated 21 human interaction networks on their ability to predict disease genes and found ConsensusPathDB 159, GIANT 148 and STRING 147 to have the best ...
A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage ...
"The study shows that 81% of patients have abnormal teeth, while 59% of patients have skin issues and 27% have nail issues. Approx. 1/3 of patients sweat less than normal, leading to a risk of ...
These include (1) a traditional genetic health-care model of services between genetics health-care providers and a patient's referring provider, (2) a nontraditional genetic health-care model ...
This genetic region plays a role in various neurodegenerative disorders related to mutations of the protein tau, such as frontotemporal dementia 28 and progressive supranuclear palsy 29, but also ...