Carrier screening programs have historically been focused within a particular group---e.g., Tay-Sachs among Ashkenazic Jews and sickle cell anemia among African Americans. With cystic fibrosis (CF), the potential target population is larger and less defined, which may introduce both technical and organizational complexity not present in past carrier screening. This appendix describes past carri...

To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β-subunit containing partial amino acid sequence of the α-subunit by structure-based homology modeling. We succeeded in producing the modified HexB ...

The metabolism of Tay-Sachs ganglioside, Cer-Glc-Gal(NeuAc)-GalNAc (G& was investigated by using GNIZ specifically labeled with 3H in the NeuAc moiety or with W in GalNAc. There are two possible pathways for the catabolism of GM2 in brain, initiated via GMM-sialidase or GM2hexosaminidase. The products of the sialidase reaction were identified and are Cer-Glc-Gal-GalNAc and NeuAc; the hexosamini...

To assess the feasibility of screening the single Jewish population for Tay-Sachs disease (TSD), a questionnaire examining the knowledge of and attitudes toward TSD and genetic screening was sent to 348 Yale University Jewish undergraduates. Of those students responding (63 percent), 78 percent were able to answer general genetic questions correctly while only 1.9 percent could answer specific ...

Skin punch biopsies of six children suffering from infantile or late onset Tay-Sachs disease, juvenile Sandhoff disease, or GM gangliosidosis type I, contained axons which, when viewed with the electron microscope, were distended by large amorphous black deposits. These are nonspecific residual bodies. Their large numbers indicate severe disturbance of the nerve cell and may be part of the dyin...