Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"hereditary diseases"”.
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Genetics, genomics and precision medicine: Innovations in childhood cancer care through the eyes of families and oncology professionals
… attitudes towards, clinical genetic testing for hereditary diseases, and highlighted the unique information and support needs of young patients affected by/at risk of genetic conditions (Chapter 2). In Chapter 3, I examined families’ (n=26 parents, n=9 young adults) experiences of cancer-related …
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Mechanisms of Palindrome-Mediated Chromosomal Instability
… rearrangements and underlie cancer and hereditary diseases such as Emanuel Syndrome. Despite being a significant source of genomic instability, the mechanisms governing palindrome fragility in eukaryotic cells are not fully defined. In this thesis, I make significant contributions to our …
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Eugenics, demography and family planning in Greece, 1950-1980: the activities of the Hellenic Eugenics Society
… ideas and policies, the institution of family, hereditary diseases, population distribution and contraception will be the central discussion areas.
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Elucidating the Genetic Basis of Canine Progressive Retinal Atrophies in Several Breeds of Dog
… retinal atrophies (PRA) are a group of hereditary diseases characterised by rod and cone photoreceptor cell death in the retina. This study sought to elucidate novel PRA-associated variants of distinct forms of PRA in three breeds of dog: the Lhasa Apso (LA), Giant Schnauzer (GS) and …
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Steroid induced neuroprotection of damaged photoreceptor cells
… Pigmentosa (RP) is the name given to a group of hereditary diseases causing progressive and degenerative blindness. RP affects over 1 in 4000 individuals, making it the most prevalent inherited retinal disease worldwide, yet currently there is no cure. In 2011, our group released a paper …
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Redox biology in retinal degeneration
Retinitis pigmentosa (RP) involves a group of hereditary diseases that cause progressive and severe visual impairment, with a prevalence of about 1 in 4,000 individuals worldwide. Unfortunately, there is currently no cure for RP and most patients become legally blind by age 40 due to the loss of …
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From yeast to animals: A small molecule restores iron mobilization, absorption and hemoglobinization
… iron metabolism are the most prevalent genetic diseases worldwide and currently, there are more than 25 different human hereditary diseases associated with loss of iron transporter function and therefore aberrant iron transport, homeostasis and/or metabolism. Given all of the advantageous …