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Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussion
While the prevalence of genetic disorders has been well documented in the Muslim-majority, low-socioeconomic country of Pakistan, the provision of...
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The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer
Direct contact may be an option for supporting disclosure in families with hereditary cancer risk. In this qualitative interview study, we explored...
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Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services
Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield in rare disease. Automation holds the promise of...
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Human Genetics of Atrial Septal Defect
Although atrial septal defects (ASD) can be subdivided based on their anatomical location, an essential aspect of human genetics and genetic...
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HLA in Population Genetics
Historically, the genetic markers of immunoglobulin allotypes (IG) located in the constant domains of IgG antibodies have been used to trace...
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Reverse Genetics of Hepatitis C Virus Using an RNA Polymerase I-Mediated Transcription
The reverse genetics system commonly used for the production of hepatitis C virus (HCV), which is a major causative agent of liver diseases, involves...
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Human Genetics of Cardiomyopathies
The identification of a disease-causing variant in a patient diagnosed with cardiomyopathy allows for presymptomatic testing in at risk relatives....
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Genetics of chronic respiratory disease
Chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD), asthma and interstitial lung diseases are frequently occurring...
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A survey of genetic and palliative care health professionals’ views of integrating genetics into palliative care
Genetic counselling and testing have utility for people with palliative care needs and their families. However, genetic and palliative care health...
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Genetics and neurobiology of eating disorders
Eating disorders (anorexia nervosa, bulimia nervosa and binge-eating disorder) are a heterogeneous class of complex illnesses marked by weight and...
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Genetics of Prion Disease
The Prion Diseases (PrDs) are rare transmissible neurodegenerative diseases that result from the accumulation of a misfolded isoform (PrPSc) of the...
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The genetics of monogenic intestinal epithelial disorders
Monogenic intestinal epithelial disorders, also known as congenital diarrheas and enteropathies (CoDEs), are a group of rare diseases that result...
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Genetics of human brain development
Brain development in humans is achieved through precise spatiotemporal genetic control, the mechanisms of which remain largely elusive. Recently,...
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Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery
The delivery of rapid genomic sequencing (rGS) to critically unwell children in intensive care occurs at a time of immense pressure and stress for...
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Patterns of referrals to regional clinical genetics services for women potentially at above-population level risk of breast cancer
BackgroundThe National Institute for Health and Care Excellence (NICE) recommends that women in England at above-population risk be offered...
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Breast Cancer Genetics, Immunology, and Immunotherapy: An Interdisciplinary Approach
Genetics have a role in the presence of breast cancer, while the potential role of the immune system leads to consideration of immunotherapy in the...
