Genetic testing and risk perception in the context of personalized medicine
Ulrik Kihlbom, Mats G. Hansson, Silke Schicktanz in Ethical, Social and Psychological Impacts of Genomic Risk Communication, 2020
People are increasingly able to access digitized data about their health, ranging from information provided by self-tracking and fitness apps to electronic patient records (Wöhlke et al. 2020; Rexhepi et al. 2018). Genetic information has become widely available, presenting people in both health care and commercial contexts with a variety of possibilities regarding the application and utility of sharing such information. Studies show that public interest in genetic information is high (Townsend et al. 2012). Genetic tests can confirm or rule out a suspected genetic condition, or determine a person’s chance of developing or passing on a genetic disorder, and in some cases, they provide relevant information that can be used to family members’ benefit (Burke 2014; Mendes et al. 2015).
A Brief History of Genetic Therapy: Gene Therapy, Antisense Technology, and Genomics
Eric Wickstrom in Clinical Trials of Genetic Therapy with Antisense DNA and DNA Vectors, 2020
From the earliest points in the development of classical genetics, physical traits conforming to the laws of genetic inheritance were observed in association with specific disease states. The inference was made that the principles of genetics may be linked in a physical manner to disease. For example, Garrod (1902) studied the incidence of the condition alkaptonuria, and later discussed this disease as an "inborn error of metabolism" (Garrod, 1909), thus linking a genetic inheritance pattern with the occurrence of a disease state. With this new method of disease classification, a list of genetically associated diseases began to grow. Indeed, through the extension of classical genetic studies and an expansion of associated technologies, 6,678 entries describing human genetic disorders were made by 1994 (McKusick, 1994). We refer to these diseases collectively as hereditary diseases. Indeed, hereditary diseases, such as cystic fibrosis and hemophilia, were among the first proposed targets for gene therapy.
Legal regulation of IVF and preimplantation diagnosis in Germany
Elisabeth Hildt, Dietmar Mieth in In Vitro Fertilisation in the 1990s, 2018
PID of genetic diseases is done with the aim of helping those couples who would prefer selection to occur at this stage rather than during pregnancy. Following IVF or an uterine lavage (which is at this time not working properly in connection with a PID), biopsy and removal of one or two cells from the early ‘pre-embryo’ provides the material for molecular genetic diagnosis without interfering the development of the embryo. If the diagnosis is positive for a hereditary disease the embryo will be rejected, otherwise the embryo will be transferred to the uterus of the mother. After the embryo has nested into the uterus, the pregnancy of the mother will start. PID has been successful so far for a number of hereditary diseases such as cystic fibrosis, Tay Sachs disease and Lesch-Nyhan syndrome.
Newborn screening for sickle cell disease in Kisangani, Democratic Republic of the Congo: an update
Published in Hematology, 2023
Emmanuel Tebandite Kasai, Béatrice Gulbis, Justin Kadima Ntukamunda, Vincent Bours, Salomon Batina Agasa, Roland Marini Djang’eing’a, François Boemer, Gedeon Katenga Bosunga, Nestor Ngbonda Dauly, La Joie Sokoni Vutseme, Bosco Boso Mokili, Jean Pierre Alworong’a Opara
SCD is an autosomal recessive hereditary blood disorder that is heterogeneously distributed worldwide, yet more frequent and with a heavy burden in the African sub-Saharan region [3–5]. Multiple studies show that approximately 300,000 SCD children are born each year, 3/4 of them in Sub-Saharan Africa, with a prevalence of 0.12–7.7% for SS and 5.62% – 24.6% for AS [6]. SCD plays a considerable part in the morbidity and mortality of children under five years old [5]; nearly 50–90% of SCD children die before the age of five years [4,5]. As a hereditary disease, its prevalence may vary up and down with the ethnic composition of the inhabitants of a country. Immigration has been incriminated as a factor in the propagation of the gene of disease from region to region through anthropologic data [7]. Today, HbC, formerly the prerogative of West Africa [3], essentially of Burkina Faso, where it originated [8] is reported in Rwanda [9], Angola [10] and recently in Kindu (DRC) [11].
The genetic background of Parkinson’s disease and novel therapeutic targets
Published in Expert Opinion on Therapeutic Targets, 2022
András Salamon, Dénes Zádori, László Szpisjak, Péter Klivényi, László Vécsei
The disease affects around 2–3% of the population ≥ 65 years of age [1]. The primary feature of PD is the degeneration and loss of dopaminergic neurons in the substantia nigra, which results in a striatal dopaminergic deficit [1]. The median age of onset of clinical symptoms (bradykinesia, rigidity and/or rest tremor) is around 60 years [2]. From a genetic point of view, PD is basically considered a sporadic disease, but 5–10% of patients have a positive family history. However, confirmed hereditary cases following Mendelian inheritance are rare [3]. Clinical differentiation of sporadic and hereditary forms of PD is very challenging and sometimes impossible [2]. Nevertheless, it can be stated that genetic variations underlying monogenic forms of PD can be identified more often in early-onset cases [3]. To date, the number of genetically confirmed genes and loci causing PD in monogenic form is thirteen (PARK1, −2, −6-10, −12-17). Furthermore, four, so far unconfirmed, PARK loci are known as well (PARK3, −5, −11, −18) [4]. In terms of inheritance, these genes show autosomal dominant (e.g. LRRK2, SNCA), recessive (e.g. PRKN, PINK1, DJ-1) and X-linked (e.g. RAB39B) patterns [5]. Furthermore, GBA mutations in heterozygous form are the most important risk factors for developing PD [6]. Table 1 illustrates the main characteristics of the most important hereditary disease forms (Table 1).
Echoes of William Gowers’s concept of abiotrophy
Published in Journal of the History of the Neurosciences, 2022
Gilberto Levy, Bruce Levin, Eliasz Engelhardt
In the same year, Fulgence Raymond (1844–1910), Charcot’s successor at la Salpêtrière (Satran 1974; Walusinski 2019), speaking before the Royal College of Physicians of London, considered that “the so-called family diseases of the nervous system” were “the consequence of the original constitution of certain nerve tracts or cells” dating “from the very conception of the individual” (Raymond 1908). Despite his preference for the expression “family diseases” instead of “hereditary diseases,” Raymond stressed that they could occur as isolated cases. He proposed that they be classified under the heading “premature physiological senescence of certain organic systems,” but not without noting: “Considerations of this order inspired your eminent neurologist Sir William Gowers when he created the terms ‘abiotrophy’ and ‘abiotrophic diseases.’ Analogous ideas have been set forth by Edinger when defending his theory of functional wear.”
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