Institute News

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

 

30 Common Diseases Studied at the Genomics Institute

(and susceptibility to environmental and lifestyle factors)

>70 Publications/Year

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)

Rare Diseases and Related Therapies Studied at the Genomics Institute

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 -
GENOMICS INSTITUTE PUBLICATIONS AND  PUBLICATIONS IN WORLD LEADING JOURNALS BY YEAR
World Leading Journals: NEJM, JAMA, The Lancet, Nature, Science, Cell, BMJ, Nature Genetics. 8/31/2023
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