A5081390905- Hemophilia Treatment and Research
- Cancer-related gene regulation
- Platelet Disorders and Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Blood groups and transfusion
- Blood Coagulation and Thrombosis Mechanisms
- Erythrocyte Function and Pathophysiology
- Hemoglobinopathies and Related Disorders
- RNA modifications and cancer
- Monoclonal and Polyclonal Antibodies Research
- Immunodeficiency and Autoimmune Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- FinTech, Crowdfunding, Digital Finance
- Yeasts and Rust Fungi Studies
- Renal Diseases and Glomerulopathies
- Genetic Associations and Epidemiology
- Chronic Myeloid Leukemia Treatments
- Plant Reproductive Biology
- Chronic Lymphocytic Leukemia Research
- Genomics and Rare Diseases
University of Washington
2024
Bloodworks Northwest
2011-2022
Abstract Despite widespread advances in DNA sequencing, the functional consequences of most genetic variants remain poorly understood. Multiplexed Assays Variant Effect (MAVEs) can measure function at scale, and are beginning to address this problem. However, MAVEs cannot readily be applied ∼10% human genes encoding secreted proteins. We developed a flexible, scalable cell surface display method, Surface Tethering Extracellular Proteins (MultiSTEP), protein variant effects. used MultiSTEP...
Summary Utilization of the synthetic vasopressin analogue (1‐deamino‐8‐D‐arginine‐vasopressin, DDAVP) in treatment mild haemophilia A (MHA, specific clotting factor VIII activity level 0.05–0.4 IU mL −1 ) is convenient and effective for many but not all patients. Genetic testing patients with MHA increasingly recognized as providing valuable information patient care beyond informing reproductive decisions, more are genotyped, mutation data can be utilized to individualize decisions. To...