Single Gene Disorders - Epidemiology

What are Single Gene Disorders?

Single gene disorders, also known as monogenic disorders, are conditions caused by mutations in a specific gene. These disorders follow Mendelian inheritance patterns and can be autosomal dominant, autosomal recessive, or X-linked. Examples include cystic fibrosis, sickle cell anemia, and Huntington's disease.

Why Study Single Gene Disorders in Epidemiology?

Understanding the epidemiology of single gene disorders helps in identifying the prevalence and incidence of these diseases in different populations. This knowledge aids in developing screening programs, public health policies, and targeted treatments. Additionally, it helps in understanding the genetic and environmental factors contributing to these disorders.

How are Single Gene Disorders Diagnosed?

Diagnosis often involves genetic testing methods such as polymerase chain reaction (PCR), sequencing, and chromosomal microarray. These tests identify mutations in specific genes. Family history and clinical presentation are also critical in the diagnostic process.

What is the Role of Genetic Counseling?

Genetic counseling plays a vital role in managing single gene disorders. Counselors provide information about the risk of inheriting or passing on these disorders, discuss potential health impacts, and offer support in decision-making regarding genetic testing and family planning.

What are the Challenges in Managing Single Gene Disorders?

Managing single gene disorders poses several challenges, including the high cost of genetic tests, limited availability of treatments, and the psychosocial impact on affected individuals and their families. Public health systems need to address these issues through policy-making, funding, and education.

How Can Epidemiology Help in Prevention and Control?

Epidemiological studies can identify risk factors and patterns of inheritance, enabling the development of prevention strategies. For instance, carrier screening programs can identify individuals at risk of passing on a disorder before conception. Prenatal testing can also assist in early diagnosis and management.

What are the Future Directions?

Advancements in genomic medicine and CRISPR technology hold promise for the future of single gene disorder management. These technologies could potentially correct genetic mutations, offering hope for a cure. Continued research and public health initiatives are essential for realizing these possibilities.

Relevant Publications

Transcriptome analysis identifies an ASD-Like phenotype in oligodendrocytes and microglia from C58/J amygdala that is dependent on sex and sociability.

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Delivery of nucleic acid based genome editing platforms via lipid nanoparticles: Clinical applications.

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Identification and bioinformatics analysis of a novel variant in the gene in a patient with intellectual developmental disorder.

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A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.

Issue Release: 2024

Decoding frontotemporal and cell-type-specific vulnerabilities to neuropsychiatric disorders and psychoactive drugs.

Issue Release: 2024

Impact of gene-by-trauma interaction in MDD-related multimorbidity clusters.

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Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

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Genetic background of walking ability and its relationship with leg defects, mortality, and performance traits in turkeys (Meleagris gallopavo).

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Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.

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Cytosolic Ribosomal Protein Haploinsufficiency affects Mitochondrial Morphology and Respiration.

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Integrated proteomic and genomic analysis to identify predictive biomarkers for valproate response in bipolar disorder: a 6-month follow-up study.

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Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome.

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Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA mA site accessibility.

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Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis.

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An integrated single-nucleus and spatial transcriptomics atlas reveals the molecular landscape of the human hippocampus.

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Engineering Memory T Cells as a platform for Long-Term Enzyme Replacement Therapy in Lysosomal Storage Disorders.

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Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.

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Development of an Automated Morphometric Approach to Assess Vascular Outcomes following Exposure to Environmental Chemicals in Zebrafish.

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Loss-of-function variants identified in autosomal recessive cherubism families.

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Multi-omics delineate growth factor network underlying exercise effects in an Alzheimer\'s mouse model.

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