Browsing by Subject "Preimplantation Genetic Diagnosis"

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    Assisted reproductive technology and the modern family
    (2023-11) Kotva, Joseph J., Jr.; Medicine, School of Medicine
    Assisted reproductive technology (ART) presents us with a new reality, and the concept of family is now entirely open. To be sure, families have always been cobbled together. Infidelity, adoption, divorce and remarriage, tribal alliances, even baptism’s imagery of joining a new people have pushed against solely genetic concepts of family. But our current reality goes further. As Liza Mundy points out, “Never before in history has it been possible for a woman to give birth to an infant who is genetically unrelated to her. Never before has it been possible for women to be the genetic parent of living children to whom she has not given birth.” So, too, never before has it been possible for genetic offspring to be born to deceased parents. Never before have we seen detailed planning in advance for families to have one parent or many parents, with complex or nonexistent genetic relationships. Never before did gay couples create families through donated eggs and the borrowed wombs of surrogates. Never before did lesbian and gay couples coparent children with genetic relationships to both sets of parents. Never before could we guarantee the sex of our children or eliminate from the start the possibility of various disabilities. Never before could prospective parents shop online for the height, weight, skin color, eye color, hair color, or athletic and academic achievements of the donors from whom will come the sperm and eggs that will merge to create their children.
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    Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
    (Springer Nature, 2006-08-09) Wszolek, Zbigniew K.; Tsuboi, Yoshio; Ghetti, Bernardino; Pickering-Brown, Stuart; Baba, Yasuhiko; Cheshire, William P.; Pathology and Laboratory Medicine, School of Medicine
    Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder, which has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the International Consensus Conference in Ann Arbor, Michigan, in 1996. The prevalence and incidence remain unknown but FTDP-17 is an extremely rare condition. It is caused by mutations in the tau gene, which encodes a microtubule-binding protein. Over 100 families with 38 different mutations in the tau gene have been identified worldwide. The phenotype of FTDP-17 varies not only between families carrying different mutations but also between and within families carrying the same mutations. The pathogenetic mechanisms underlying the disorder are thought to be related to the altered proportion of tau isoforms or to the ability of tau to bind microtubules and to promote microtubule assembly. Definitive diagnosis of FTDP-17 requires a combination of characteristic clinical and pathological features and molecular genetic analysis. Genetic counseling should be offered to affected and at-risk individuals; for most subtypes, penetrance is incomplete. Currently, treatment for FTDP-17 is only symptomatic and supportive. The prognosis and rate of the disease's progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades.