he European Society of Human Genetics is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.
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The informed consent process in biomedical research is biased towards people who can meet with clinical study staff during the working day. For those who have the availability to have a consent conversation, the time burden ...
Jun 12, 2023
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Rates of colorectal cancer are high despite widespread adoption of screening programs in many high-income European countries. Such programs tend to use a one-size-fits-all approach where most people are screened starting ...
Jun 11, 2023
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Xeroderma pigmentosum (XP) is a rare and devastating genetic disorder characterized by an inability to repair skin damage caused by ultraviolet (UV) light. As a result, patients with XP develop skin cancers, usually in childhood. ...
Jun 11, 2023
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Genetic counseling is essential when dealing with individuals who are affected by, or at risk of, inherited disease. Although it is known to be useful in helping patients cope with test results and deal with uncertainty, ...
Jun 10, 2023
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Identifying people at high risk of chronic disease means that they can be targeted with prevention measures before they become sick. Polygenic risk scores, where genomic information alone is used to assess the risk of developing ...
Jun 9, 2023
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Inherited retinal diseases (IRDs), single-gene disorders affecting the retina, are very difficult to diagnose since they are uncommon and involve changes in one of many candidate genes. Outside specialist centers, there are ...
Jun 9, 2023
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Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. But whole genome sequencing ...
Jun 13, 2022
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Combining information about the pattern of blood vessels in the retina with genetic data can enable accurate prediction of an individual's risk of coronary artery disease (CAD) and its potentially fatal outcome, myocardial ...
Jun 13, 2022
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As the cost of genome and exome sequencing falls, its use in characterizing rare diseases and personalizing cancer treatment, for example, is becoming far more frequent. But such analyses may throw up findings unrelated to ...
Jun 10, 2022
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De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have. Where a disease-causing DNV is present ...
Aug 31, 2021
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