Phenotype Heterogenity, Treatment and Prevention of Genetic Diseases

Desnick, Robert J.

Abstract

The objectives of the proposed research are to delineate the phenotypic heterogeneity of genetic disorders; develop and evaluate novel methods for treatment of genetic disorders; and develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic, biochemical and nucleic acid techniques and amniotic fluid and cells.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Center for Research Resources (NCRR)
• Type: General Clinical Research Centers Program (M01)
• Project #: 5M01RR000071-27
• Application #: 3884344
• Support Year: 27
• Fiscal Year: 1990

Institution

• Name: Mount Sinai School of Medicine
• City: New York
• State: NY
• Country: United States
• Zip Code: 10029

Publications

Grams, Morgan E; Sang, Yingying; Ballew, Shoshana H et al. (2018) Predicting timing of clinical outcomes in patients with chronic kidney disease and severely decreased glomerular filtration rate. Kidney Int 93:1442-1451

Kattan, Meyer; Bacharier, Leonard B; O'Connor, George T et al. (2018) Spirometry and Impulse Oscillometry in Preschool Children: Acceptability and Relationship to Maternal Smoking in Pregnancy. J Allergy Clin Immunol Pract 6:1596-1603.e6

Coplan, Jeremy D; Webler, Ryan; Gopinath, Srinath et al. (2018) Neurobiology of the dorsolateral prefrontal cortex in GAD: Aberrant neurometabolic correlation to hippocampus and relationship to anxiety sensitivity and IQ. J Affect Disord 229:1-13

Altman, Matthew C; Whalen, Elizabeth; Togias, Alkis et al. (2018) Allergen-induced activation of natural killer cells represents an early-life immune response in the development of allergic asthma. J Allergy Clin Immunol 142:1856-1866

Juraschek, Stephen P; Miller 3rd, Edgar R; Appel, Lawrence J (2018) Orthostatic Hypotension and Symptoms in the AASK Trial. Am J Hypertens 31:665-671

Sheffield, Perry E; Uijttewaal, Simone A M; Stewart, James et al. (2017) Climate Change and Schools: Environmental Hazards and Resiliency. Int J Environ Res Public Health 14:

Juraschek, Stephen P; Appel, Lawrence J; Miller 3rd, Edgar R (2017) Metoprolol Increases Uric Acid and Risk of Gout in African Americans With Chronic Kidney Disease Attributed to Hypertension. Am J Hypertens 30:871-875

Chen, Teresa K; Tin, Adrienne; Peralta, Carmen A et al. (2017) APOL1 Risk Variants, Incident Proteinuria, and Subsequent eGFR Decline in Blacks with Hypertension-Attributed CKD. Clin J Am Soc Nephrol 12:1771-1777

Ramratnam, Sima K; Visness, Cynthia M; Jaffee, Katy F et al. (2017) Relationships among Maternal Stress and Depression, Type 2 Responses, and Recurrent Wheezing at Age 3 Years in Low-Income Urban Families. Am J Respir Crit Care Med 195:674-681

Chen, Teresa K; Appel, Lawrence J; Grams, Morgan E et al. (2017) APOL1 Risk Variants and Cardiovascular Disease: Results From the AASK (African American Study of Kidney Disease and Hypertension). Arterioscler Thromb Vasc Biol 37:1765-1769