the Genomics Research and Innovation NetworkPurpose: Clinicians and researchers must contextualize a patient's genetic variants against population-based references with detailed phenotyping. We sought to establish globally scalable technology, policy, and procedures for sharing biosamples and associated genomic and phenotypic data on broadly consented cohorts, across sites of care.Methods: Three of the nation's leading children's hospitals launched the Genomic Research and Innovation Network (GRIN), with federated information technology infrastructure, harmonized biobanking protocols, and material transfer agreements. Pilot studies in epilepsy and short stature were completed to design and test the collaboration model.
Results:Harmonized, broadly consented institutional review board (IRB) protocols were approved and used for biobank enrollment, creating ever-expanding, compatible biobanks. An open source federated query infrastructure was established over genotype-phenotype databases at the three hospitals. Investigators securely access the GRIN platform for prep to research queries, receiving aggregate counts of patients with particular phenotypes or genotypes in each biobank. With proper approvals, de-identified data is exported to a shared analytic workspace. Investigators at all sites enthusiastically collaborated on the pilot studies, resulting in multiple publications. Investigators have also begun to successfully utilize the infrastructure for grant applications.
Conclusions:The GRIN collaboration establishes the technology, policy, and procedures for a scalable genomic research network.Genetics in Medicine (2020) 22:371-380; https://doi.
Цель-определение характера повреждений структур опорно-мышечного аппарата глаза и глазницы, выработка алгоритма лазерной терапии для восстановления кровообращения в зоне повреждения орбиты и транскраниальной лазерной терапии для нормализации микроциркуляции во всех группах мышц челюстно-лицевой области. Материал и методы. Проанализированы результаты обследования и лечения 75 больных с травмой средней зоны лица с использованием методов лазерной спектрофотометрии и компьютерного моделирования структур орбиты во фронтальной, сагиттальной и наклонных плоскостях с SSD-, MPR-и VRTреконструкциями. При компьютерном моделировании применялось программное обеспечение Mimics (Materialise, Leuven, Бельгия). Для исследования микроциркуляции тканей орбитальной и челюстно-лицевой областей использовался комплекс Спектротест. При исследовании регистрировались концентрация кислорода в тканях (сатурация (StO2)) и индекс объемного кровенаполнения сосудов микроциркуляторного русла (V кр).
Newly developed combined adsorbents, containing from 1 to 8 mg of thymic DNA per 1 g of the granulated or the fibrous carbonic matrix, demonstrated good biocompatibility and selectivity for DNA- and DNP-binding substances. In a group of 14 patients with severe psoriasis (uncontrol trial) a single hemoperfusion procedure through DNA-coated granulated synthetic carbons (perfusion volume was 2.5-3.1 L, sorbent quantity was 30 g) resulted in complete remission in 6 patients and in substantial improvement of clinical status in 6 other patients. A positive effect was observed in 4 patients during 7-11 months; in 8 patients it is being observed for more than 29-33 months. The double-blind tests in the group of patients subjected to hemoperfusion through the DNA-coated charcoal (27 people) and uncoated charcoal (9 people) showed the full-scale remission in 55.5% and 11.2% respectively. The authors believe that the DNA-coated activated carbons can be an effective therapeutic procedure for treatment of numerous immuno-dependent diseases and states associated with disorders in the kinetics of cell division.
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