Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments
Abstract Common diseases, such as cancer, diabetes mellitus, or Alzheimer's disease, affect a large segment of the population, which justifies the enormous financial allocations for translational and clinical research. In contrast, the ~5,000 known rare disorders affect only very few patients e...
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| Format: | Article |
| Language: | English |
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Springer Nature
2017-11-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.201708365 |
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| author | Christoph Klein William A Gahl |
| author_facet | Christoph Klein William A Gahl |
| author_sort | Christoph Klein |
| collection | DOAJ |
| description | Abstract Common diseases, such as cancer, diabetes mellitus, or Alzheimer's disease, affect a large segment of the population, which justifies the enormous financial allocations for translational and clinical research. In contrast, the ~5,000 known rare disorders affect only very few patients each, even though the cumulative disease burden is substantial. This influences not only the general appreciation of research to address rare diseases, but also the allocation of research funds. Importantly, however, studying rare diseases has contributed enormously to our understanding of human biochemistry, cell and developmental biology, and physiology. For example, Linus Pauling and Vernon Ingram's discovery of a structural difference and amino acid variant in the beta‐globin protein, which causes monogenic hemoglobinopathies such as sickle cell disease or thalassemia, issued in the era of molecular medicine (Pauling et al, 1949). Subsequently, numerous genetic defects in critical genes controlling differentiation and/or function of cells and organs have been identified and opened new possibilities for molecular diagnosis. |
| format | Article |
| id | doaj-art-75237b6ae77e4877bc7558009543fa33 |
| institution | Kabale University |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2017-11-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-75237b6ae77e4877bc7558009543fa332025-08-20T03:42:56ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842017-11-011011310.15252/emmm.201708365Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatmentsChristoph Klein0William A Gahl1Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU MunichUndiagnosed Diseases Program and National Human Genome Research Institute, National Institutes of HealthAbstract Common diseases, such as cancer, diabetes mellitus, or Alzheimer's disease, affect a large segment of the population, which justifies the enormous financial allocations for translational and clinical research. In contrast, the ~5,000 known rare disorders affect only very few patients each, even though the cumulative disease burden is substantial. This influences not only the general appreciation of research to address rare diseases, but also the allocation of research funds. Importantly, however, studying rare diseases has contributed enormously to our understanding of human biochemistry, cell and developmental biology, and physiology. For example, Linus Pauling and Vernon Ingram's discovery of a structural difference and amino acid variant in the beta‐globin protein, which causes monogenic hemoglobinopathies such as sickle cell disease or thalassemia, issued in the era of molecular medicine (Pauling et al, 1949). Subsequently, numerous genetic defects in critical genes controlling differentiation and/or function of cells and organs have been identified and opened new possibilities for molecular diagnosis.https://doi.org/10.15252/emmm.201708365 |
| spellingShingle | Christoph Klein William A Gahl Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments EMBO Molecular Medicine |
| title | Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments |
| title_full | Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments |
| title_fullStr | Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments |
| title_full_unstemmed | Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments |
| title_short | Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments |
| title_sort | patients with rare diseases from therapeutic orphans to pioneers of personalized treatments |
| url | https://doi.org/10.15252/emmm.201708365 |
| work_keys_str_mv | AT christophklein patientswithrarediseasesfromtherapeuticorphanstopioneersofpersonalizedtreatments AT williamagahl patientswithrarediseasesfromtherapeuticorphanstopioneersofpersonalizedtreatments |