Asian genetic disorders

Asian genetic disorders
Aug 4, 2025
Here, the Movement Disorders in Asia Task Force sought to review genetic movement disorders that are commonly seen in Asia, including Wilson's disease, spinocerebellar ataxias (SCA) types 12, 31, and 36, Gerstmann‐Sträussler‐Scheinker disease, PLA2G6 ‐related parkinsonism, adult‐onset neuronal intranuclear inclusion disease (NIID), and ...
Asian Americans are disproportionately affected by these five health conditions: HLA-B*1502 defect, stomach cancer, hypertension, hepatitis B, and tuberculosis.
These include genetics, cultural dynamics, access to care, and environmental influences. As a group, Asian Americans are largely healthier than the general population. However, there are some high-risk Asian American health conditions. Knowing your risk for these diseases can help you take control of your health.
Health disparities are differences in the incidence, prevalence, and mortality of a disease and the related adverse health conditions that exist among specific population groups. These groups may be characterized by gender, age, race or ethnicity, education, income, social class, disability, geographic location, or sexual orientation.
Asian Americans have been understudied in the literature on genetic and genomic services. The current study systematically identified, evaluated, and summarized findings from relevant qualitative and quantitative studies on genetic health care for Asian Americans.
Apr 30, 2024
Meanwhile, disease risk and carrier burden varied even among Asian ancestry groups, driven by the distinctive prevalence of ancestry-specific recurrent variants. Pharmacogenomics is the study of how an individual's genetic makeup affects their response to drugs. The study also investigated the pharmacogenomics of a large cohort of Asian ...
Clinically significant genetic variation in Asian populations is under-characterized. Here, the authors show the diversity in prevalence and spectrum of human disease and pharmacogenetic variants ...
These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations.
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes certain muscles to become weak and waste away. There are five subtypes.
Dec 10, 2025
Nov 28, 2025
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This study identified multiple barriers to genetic counseling, testing, and care for Asian Americans, as well as gaps in the research literature.
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Mount Sinai Health System offers patients the full range of clinical care specialties and treatments, as well as a vast network of facilities.
Here, we identified genetic variations-ethnically specific SNPs (ESNPs) and ethnically specific CNPs (ECNPs)-of Asian populations using SNP genotypic profiling. These ESNP and ECNP markers can be used to identify genetic differences and to predict disease susceptibility and drug effectiveness in Asian populations.
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An ambitious new study of genes in Asian populations is filling in big gaps in our understanding of human genetics, shedding light on the history of human migration and ultimately aiming to ...
Our findings demonstrate the diversity of genetic epidemiology of disease in multi-ethnic Asian populations and highlight opportunities for coupling genetic disease risk profiling with pre-emptive pharmacogenomics for therapy optimization.
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Jul 17, 2017
A new genomic analysis reveals how populations in South Asia—including people living in India, Pakistan, Bangladesh, Sri Lanka and Nepal—are particularly vulnerable to rare genetic diseases. Several diseases specific to South Asian populations had been identified in the past, but the genetic ...
Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies.
Asians are more susceptible to type 2 diabetes mellitus (T2D) and its coronary heart disease (CHD) complications than the Western populations, possibly due to genetic factors, higher degrees of obesity, insulin resistance, and endothelial dysfunction that could occur even in healthy individuals.
Largest Ever Study of Chinese People's Genetics Reveals Insights on Migration Patterns, Diet, Disease Scientists analyzed DNA samples from 141,431 pregnant Chinese women, or roughly 1/10,000 of ...
Background Asian Indians display a high prevalence of diseases linked to changes in diet and environment that have arisen as their lifestyle has become more westernized. Using 1200 genome-wide polymorphisms in 432 individuals from 15 Indian language groups, we have recently shown that: (i) Indians constitute a distinct population-genetic cluster, and (ii) despite the geographic and linguistic ...
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To better assess these disparities, we conducted a systematic analysis of the National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases (GARD) Information Center databases to identify rare diseases that are often misdiagnosed in individuals of Asian descent, as well as scientific studies through the PubMed search engine that ...
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Asian Indians display a high prevalence of diseases linked to changes in diet and environment that have arisen as their lifestyle has become more westernized. Using 1200 genome-wide polymorphisms in 432 individuals from 15 Indian language groups, we ...
We identify multiple examples of recessive diseases in South Asia that are the result of such founder events. This study highlights an under-appreciated opportunity for reducing disease burden among South Asians through the discovery of and testing for recessive disease genes.
Some genetic disorders are more likely to occur among people who trace their ancestry to a particular geographic area. Learn more about why this happens.
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An ambitious new study of genes in Asian populations is filling in big gaps in our understanding of human genetics, shedding light on the history of human migration and ultimately aiming to improve our ability to treat disease.
These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations.
We would like to show you a description here but the site won't allow us.
This study identified multiple barriers to genetic counseling, testing, and care for Asian Americans, as well as gaps in the research literature. By focusing on these barriers and filling these gaps, clinical genetic approaches can be tailored to meet the needs of diverse patient groups, particularl …
South Asian groups presents an opportunity to decrease disease burden in South Asia. This source of risk of recessive dis-eases is very different from risk due to marriages a
Parkinson's disease (PD) is a chronic neurodegenerative disorder caused by the progressive degeneration of dopamine -producing neurons in the substantia nigra, a structure located in the midbrain essential for reward and movement. The rapid deterioration of these dopaminergic neurons leads to both motor and non-motor complications.
Resettlement of Southeast Asian refugees has introduced into the Western Hemisphere many persons of all major ethnic groups from Indochina. They represent several distinctive cultural, genetic, and linguistic groups, and the prevalence of genetic traits among them varies accordingly. We studied 778 …
Genome-wide association studies (GWASs) of bipolar disorder (BD) have predominantly included individuals of European (EUR) ancestry, underrepresenting non-EUR populations and limiting insight into disease mechanisms. Here we performed a GWAS of BD in Han Chinese individuals (5,164 cases and 13,460 c …
A database comprising whole genome and protein-coding sequences from 5305 healthy individuals of Korean ethnicity will provide an invaluable resource for genetic studies on East Asian populations ...
This study demonstrates the value of a population specific genomic database to determine true disease prevalence and has enabled the discovery of carrier frequencies of treatable genetic conditions specific to South East Asian populations, which are currently underestimated in existing data sources. …
Oct 15, 2025
Genome-wide association analyses across individuals of East Asian and European ancestries identify new risk loci for inflammatory bowel diseases. A polygenic risk score derived from the combined ...
The variants are known as Cameroon, Senegal, Benin, Bantu, and Saudi-Asian. [65] These are clinically important because some are associated with higher HbF levels, e.g., Senegal and Saudi-Asian variants, and tend to have milder disease. [66] Base-pair substitution that causes sickle cell anaemia
CONCLUSION: This study identied multiple barriers to genetic counseling, testing, and care for Asian Americans, as well as gaps in fi the research literature. By focusing on these barriers and ...
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Findings In a genetic association study including a 24-proband discovery cohort and an 84-proband validation cohort of non-East Asian patients with moyamoya disease, whole-exome sequencing identified rare, damaging variants in DIAPH1 (diaphanous-1), a key effector of actin remodeling in vascular cells and platelets.
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East Asia constitutes one-fifth of the global population and exhibits substantial genetic diversity. However, genetic investigations on populations in this region have been largely under-represented compared with European populations. Nonetheless, the last decade has seen considerable efforts and progress in genome-wide genotyping and whole-genome sequencing of the East-Asian ethnic groups ...
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
Clinical and histopathological manifestations of MMD in Southeast Asians are similar to those in Caucasian Europeans. The genotype of MMD in Southeast Asians differs from that of most East Asian patients.
Conclusion This study demonstrates the value of a population specific genomic database to determine true disease prevalence and has enabled the discovery of carrier frequencies of treatable genetic conditions specific to South East Asian populations, which are currently underestimated in existing data sources.
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Nov 22, 2024
The pathogenesis of inflammatory bowel disease (IBD) is not well-understood; however, increased and persistent intestinal inflammation, due to inappropriate immune responses that are caused by interactions between genetic factors, gut microbiota, ...
Dec 4, 2024
Jul 19, 2025
This study demonstrates the value of a population specific genomic database to determine true disease prevalence and has enabled the discovery of carrier frequencies of treatable genetic ...
Thalassemia in people of Mediterranean, Asian, Middle Eastern, and African descent Thalassemia is a genetic blood disorder that results in the production of abnormal hemoglobin.
The researchers identified 61 new genetic variants associated with type 2 diabetes in people of East Asian descent that had not previously been detected in people of European descent, which might help to explain this.
A genome-wide study based on three-dimensional facial images identifies new loci associated with facial morphology in East Asian populations. Comparison with data from European populations ...
This Mendelian randomization (MR) study systematically examines the causal links between skin disorders and depression in individuals of East Asian descent. MR analysis employed summary-level genome-wide association study (GWAS) data from East Asian ...
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