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The Genetic Risk of a Couple Aiming to Conceive
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Joe Leigh Simpson, Svetlana Rechitsky, Anver Kuliev
DNA-based screening actually began in the 1990s as the Human Genome Initiative was under development, albeit on a more limited basis than at present. Screening for carriers of Tay-Sachs disease was initially based solely on protein gene product, hexosaminidase A. However, only a few base mutations are responsible for most cases of Tay-Sachs in the Ashkenazim. Screening these mutations resulted in high heterozygote carrier frequencies. Other autosomal recessive disorders in the Ashkenazim could similarly be screened for. Carrier screening was thus recommended by ACOG for Canavan disease and for familial dysautonomia (25), with “consideration” given for other disorders common in the Ashkenazim: mucolipidosis IV; Niemann-Pick disease type A; Fanconi anemia types A, B, C; Bloom syndrome; Gaucher disease (GBA); Joubert syndrome; familial hyperinsulinemia (ABCC8); maple syrup urine integrated (BCKDHA, BCKDHB, DBT) disease; and Usher syndrome. In addition to Canavan disease and familial dysautonomia, ACMG recommended screening for Niemann-Pick (type A) and Bloom syndrome. DNA panels for these disorders detect 95–99% of heterozygotes. The same approach was later applied in pan-ethnic couples carrying other mutant genes.
C
Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Canavan Disease (Syn. spongy degeneration of infancy) A form of familial degenerative disease of the white matter of the central nervous system, seen in certain Jewish families. Observed by American pathologist, M.M. Canavan (1879–1953) in 1931.
Regeneration: Nanomaterials for Tissue Regeneration
Published in Harry F. Tibbals, Medical Nanotechnology and Nanomedicine, 2017
At the CNS Gene Therapy Center of Thomas Jefferson University in Philadelphia, researchers are working toward the goal of developing safe and effective in vivo gene therapy for the treatment of Canavan disease and other neurological disorders. Canavan disease is a leukodystrophy caused by a deficiency in the enzyme aspartoacylase that breaks down aspartic acid. The CNS Gene Therapy Center has developed gene therapy based on nonvi-ral plasmids in a lipid-entrapped, polycation-condensed delivery system for gene transfer into the central nervous system. This is an effective system that avoids the proliferative and immunological problems associated with virus and cell-based gene therapies. Toxicity and gene expression were tested in human cell cultures, showing effective transfer of genes for aspartoacylase and high levels of activity for the enzyme. The gene transfer system was then tested in rodents and primates before initial clinical tests on two children, with no significant adverse effects. The biochemical, radiological, and clinical changes in human patients are being assessed. If successful, this trial would have implications for Canavan disease, for which there is currently no treatment, and for other types of leukodystrophy [145].
Severe retinal degeneration in a patient with Canavan disease
Published in Ophthalmic Genetics, 2021
Matthew D. Benson, David J.A. Plemel, Paul R. Freund, James R. Lewis, Jörn Oliver Sass, Luzy Bähr, Corinne Gemperle-Britschgi, Patrick Ferreira, Ian M. MacDonald
Canavan disease (OMIM# 271900) is an autosomal recessive neurodegenerative disorder, first described in 1931(1). The disease is a form of leukodystrophy that manifests as neurologic regression after a period of normal development. It typically presents in the neonatal/infantile period with signs of macrocephaly, developmental delay, hypotonia, and impaired vision(2). Children often develop seizures, a disrupted sleep pattern, poor swallowing, and joint stiffness. The severe form of Canavan disease is often fatal within the first decade of life(3). A less recognized variant of the disease exists with a juvenile age of onset and only mild developmental delay with or without macrocephaly(3).
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
Published in Expert Review of Neurotherapeutics, 2020
Mahmoud Reza Ashrafi, Man Amanat, Masoud Garshasbi, Reyhaneh Kameli, Yalda Nilipour, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli
They have more rapid onset and higher level of transgene expression in the brain than lentivirus and are able to infect a wide variety of cell types. Some serotypes of AAV can cross the blood–brain barrier; so could be used in CNS. Clinical trial in Canavan disease using recombinant AAV vector, have shown advantage of their therapeutic intervention [143].