About Us
The Department of Genetic Medicine at Weill Cornell leads a dynamic and innovative translational research program, advancing diverse fields such as Genetic Therapy and Personalized Medicine.
The Department of Genetic Medicine at Weill Cornell leads a dynamic and innovative translational research program, advancing diverse fields such as Genetic Therapy and Personalized Medicine.
Our translational research program aims to leverage our expertise in genetic therapies and personalized medicine to develop clinical solutions that target the molecular causes of human diseases.
The Department of Genetic Medicine advances treatments and diagnostics through diverse clinical trials, including drug testing and research to better understand diseases.
The Belfer Gene Therapy Core Facility (BGTCF) is a cutting-edge genetic medicine research facility.
The Department of Genetic Medicine at Weill Cornell leads a dynamic and innovative translational research program, advancing diverse fields such as Genetic Therapy and Personalized Medicine.
Our translational research program aims to leverage our expertise in genetic therapies and personalized medicine to develop clinical solutions that target the molecular causes of human diseases.
The Department of Genetic Medicine advances treatments and diagnostics through diverse clinical trials, including drug testing and research to better understand diseases.
The Belfer Gene Therapy Core Facility (BGTCF) is a cutting-edge genetic medicine research facility.
Publication Type | Academic Article |
Authors | Dyke J, Sondhi D, Voss H, Shungu D, Mao X, Yohay K, Worgall S, Hackett N, Hollmann C, Yeotsas M, Jeong A, Van de Graaf B, Cao I, Kaminsky S, Heier L, Rudser K, Souweidane M, Kaplitt M, Kosofsky B, Crystal R, Ballon D |
Journal | AJNR Am J Neuroradiol |
Volume | 34 |
Issue | 4 |
Pagination | 884-9 |
Date Published | 10/04/2012 |
ISSN | 1936-959X |
Keywords | Brain, Magnetic Resonance Imaging, Neuronal Ceroid-Lipofuscinoses, Severity of Illness Index |
Abstract | BACKGROUND AND PURPOSE: LINCL is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene that encodes for tripeptidyl peptidase 1, a lysosomal enzyme necessary for the degradation of products of cellular metabolism. With the goal of developing quantitative noninvasive imaging biomarkers sensitive to disease progression, we evaluated a 5-component MR imaging metric and tested its correlation with a clinically derived disease-severity score. MATERIALS AND METHODS: MR imaging parameters were measured across the brain, including quantitative measures of the ADC, FA, nuclear spin-spin relaxation times (T2), volume percentage of CSF (%CSF), and NAA/Cr ratios. Thirty MR imaging datasets were prospectively acquired from 23 subjects with LINCL (2.5-8.4 years of age; 8 male/15 female). Whole-brain histograms were created, and the mode and mean values of the histograms were used to characterize disease severity. RESULTS: Correlation of single MR imaging parameters against the clinical disease-severity scale yielded linear regressions with R2 ranging from 0.25 to 0.70. Combinations of the 5 biomarkers were evaluated by using PCA. The best combination included ADC, %CSF, and NAA/Cr (R2=0.76, P<.001). CONCLUSIONS: The multiparametric disease-severity score obtained from the combination of ADC, %CSF, and NAA/Cr whole-brain MR imaging techniques provided a robust measure of disease severity, which may be useful in clinical therapeutic trials of LINCL in which an objective assessment of therapeutic response is desired. |
DOI | 10.3174/ajnr.A3297 |
PubMed ID | 23042927 |
PubMed Central ID | PMC3644851 |