Overview: What the Genomics Institute Does
- Genetic basis of common chronic diseases (most often cardiometabolic)
- diabetes, cardiovascular disease, hyperlipidemia, hypertension, Alzheimer's/dementia, chronic kidney disease
- Prediction of common diseases for patients and populations (using polygenic risk scores)
- Prediction and mechanisms of common disease (using multi-omics)
- Treatment of rare genetic disorders
- Stem cell therapy pre-clinical development
Faculty of the Institute (2023)
Common Diseases
New
Therapy of Rare Disorders
New
| Cardiovascular | Vision |
|---|---|
| Atherosclerosis-Coronary Artery Diseases | Diabetic Retinopathy |
| Aortic Valve Calcification-Aortic Stenosis | Glaucoma |
| Congestive Heart Failure-Cardiomyopathy | Retinopathy of Prematurity |
| Atrial Fibrillation | Other |
| EKG-Arrhythmias | Anemia and Red Blood Cell Disorders |
| Thrombosis | Osteoporosis-Height |
| Stroke | Breast Cancer |
| Metabolic | COPD |
| Diabetes Types I and II | Idiopathic Pulmonary Fibrosis |
| Insulin Resistance-Metabolic Syndrome | COVID-19 |
| Obesity | Aging |
| Non-alcoholic Fatty Liver Disease | Inflammation |
| Lipids | CAD in RA and SLE |
| Polycystic Ovary Syndrome | Dermatomyositis |
| Neurological | Susceptibility to Environment |
| Alzheimer's | Diet-Nutrition |
| Cognition Disorders | Heavy Metals |
| Sleep Disorders | Air Pollution |
| Renal | Alcohol |
| Kidney Disease | Stress |
| Hypertension | Shift Work |
| (as of 8/18/2023: published in 2021 to present on 26; 2022 to the present on 24; 2023 to present on 16) | |
| Lysosomal Storage Diseases--------------------------> | Drugs approved/under investigation/under development |
|---|---|
| Mucopolysaccharidosis type IH (Hurler syndrome) | Adalimumab (Humira) |
| Mucopolysaccharidosis type IA (Scheie/Hurler Scheie syndrome) | Adalimumab (Humira) |
| Mucopolysaccharidosis type II (Hunter syndrome) | Adalimumab (Humira); Elaprase + Immune tolerance regimen |
| Mucopolysaccharidosis type III (Sanfilippo syndrome) | Anakinra (Kineret); cannabidiol |
| Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) | Adalimumab (Humira) |
| Metachromatic Leukodystrophy | Intrathecal SHP611 |
| Fabry Disease | - |
| Pompe Disease | - |
| Niemann Pick Type C | Intrathecal 2-hydroxypropyl-beta-cyclodextrin |
| Metabolic Bone Disease | |
| Osteopetrosis | - |
| Neurologic Disorders | |
| Ataxia telangiectasia | - |
| Pitt-Hopkins syndrome | Antisense Oligonucleotide Therapy |
| Epilepsy | Anti-epileptic therapy dose optimization |
| Skeletal Dysplasia | |
| Achondroplasia | Vosoritide (Voxzogo); Recifercept |
| Hemoglobinopathies | |
| Sickle Cell Disease | Decitabine-Tetrahydrouridine; GBT021601 |
| Pediatric Cancer | |
| General (Children’s Oncology Group) | Various COG protocols |
| COVID-19 in Pediatric Cancer Patients | - |
