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Your Genetic Destiny: Know Your Genes, Secure your Health, Save …

WEBGenes are much in the news, creating curiosity, concern, hope, and confusion. “Contrary to what you might think, your genetic destiny is not preordained …

Actived: 7 days ago

URL: https://jmg.bmj.com/content/39/11/863

Variant reclassification and clinical implications Journal of Medical

WEBGenomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to …

Category: Health Go Health

Impacts of genomics on the health and social costs of intellectual

WEBMethods Multiple knowledge bases were cross-referenced and analysed to compile a reference list of monogenic disorders associated with ID. Multiple literature …

Category: Health Go Health

Ancestry, race and ethnicity: the role and relevance of language in

WEBBackground The terms ancestry, race and ethnicity are used variably within the medical literature and within society and clinical care. Biological lineage can provide an important …

Category: Medical Go Health

Public willingness to participate in population DNA screening in

WEBBackground Population-based DNA screening for medically actionable conditions has the potential to improve public health by enabling early detection, treatment and/or …

Category: Medical Go Health

Methodology in phenome-wide association studies: a systematic …

WEBPhenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review …

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Genetics of bipolar disorder Journal of Medical Genetics

WEBBipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme …

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Why patients do not attend for their appointments at a genetics …

WEBEditor—When a patient does not attend a scheduled appointment, or cancels so late that a replacement cannot be found, there is a cost to the health care system in terms of …

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Inbreeding and risk of late onset complex disease

WEBNumerous reports on the health effects of inbreeding have focused mainly on its impact on reproduction, childhood mortality, and rare Mendelian disorders. 2,3 For example, a …

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Ten years of presymptomatic testing for Huntington's disease: the

WEBData on all presymptomatic genetic tests for Huntington's disease (HD) in the UK have been collected over the 10 year period since testing became available as a service. A total of …

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Cardiovascular genetics: are we there yet

WEBCardiovascular genetics Since 1900, cardiovascular disease has been the number one killer in the United States every year except 1918, the year of the great influenza pandemic. …

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Genetic diagnosis of subfertility: the impact of meiosis and …

WEBDuring reproductive age, approximately one in seven couples are confronted with fertility problems. While the aetiology is diverse, including infections, metabolic diseases, …

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Carriers of autosomal recessive conditions: are they really …

WEBMendel’s Law of Dominance suggests that recessive disease expression requires the inheritance of two mutated alleles as the dominant, wildtype allele suppresses disease …

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Behavioural phenotype of Bardet-Biedl syndrome

WEBBardet-Biedl syndrome (BBS), also known as Laurence-Moon-Bardet-Biedl syndrome (LMBBS), has long been regarded as an autosomal recessive condition but recent …

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Diagnostic criteria for constitutional mismatch repair deficiency

WEBBackground Constitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often …

Category: Cancer Go Health

Authors Journal of Medical Genetics

WEBJournal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest …

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Spectrum of LYST mutations in Chediak-Higashi syndrome: a …

WEBIntroduction Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological …

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Evaluation of the clinical, biochemical, genotype and prognosis of

WEBBackground Methylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase ( mut type) or its cofactor, is the most common inherited organic acid …

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Catalogue of inherited disorders found among the Irish Traveller

WEBBackground Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High …

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