An increasing concern amongst geneticists is epidemiological data, as well as personal data, which is then used by insurance companies. This is an immense source of concern for several reasons, but before looking at the reasons for our concern, it would be well to look at the mode of inheritance which many of these genetic disorders follow. Those genetic conditions of which the public is most aware are often inherited in a relatively straightforward way. Among these we can count cystic fibrosis, sickle cell anaemia, Huntington’s chorea and Duchenne muscular dystrophy. The most straightforward inherited condition of these are cystic fibrosis and sickle cell anaemia; you can be an unaffected carrier with one defective gene, but one perfectly normal one which functions correctly and that is all you need. If you should marry another carrier, however, simple patterns of inheritance indicate that the probability of producing an affected child is one in four; the probability of producing a non-carrier child is also one in four. The probability of producing a carrier child is one in two, or 50%. This is a probability, nothing more, so who should have access? When it comes to Huntington’s chorea the situation starts to become a little cloudy and, with further examples which we shall look at, will become very difficult to interpret. Huntington’s chorea is generally considered to be a dominantly inherited condition. But wait, why do the onset of symptoms occur at different times of life and with different rates of progression? Surely this means that it is not just a case of dominant/recessive? But if it was, then it would be easy to define the mode of inheritance. But it is not so easy, even in this case where we can say with certainty that an individual does or does not carry the gene and therefore will or will not have the disease; we are still unable to say when the disease will manifest itself. When it comes to other forms of inheritance the story becomes ever more complicated and the questions which need to be addressed ever more convoluted. A very good example of this is found in breast cancer. It is known that breast cancer is associated with a gene called BRCA1. About 5% of breast cancers are the result of this gene, and about 70% of those women who carry the gene will die as a result before they are 70 years old. But, of course, that leaves us with 30% of carriers who never succumb to the disease. So the question is simple: what protects the lucky 30%? This is unknown and there is no way of predicting if a BRCA1 carrier is in the 70% or 30%. So it is here that the ethical consideration comes in and possibly the legal challenge. Should an insurance company be able either to insist either on an individual having a test, or having had the test voluntarily, be able to insist on seeing the results? I do not think so. No matter what the Association of British Insurers says, its logic is fundamentally flawed. There are two basic reasons for saying this, but it would be well first to look at the manner in which insurance works. When calculating insurance premiums, there are two basic ways in which it is done. The first is called mutuality. This keeps all the people at the same risk together and therefore sharing the costs and consequently an insurance company would like lots of low risk people to maximise profits. This is the situation generally used in America where health insurance for some individuals can be impossible to find because they are perceived to be in a high risk group. The

2019 ◽  
Vol 14 (2) ◽  
Author(s):  
Musediq Olufemi Lawal

This study is an ethnological and anthropological appreciation of indigenous approach in the management of Sickle Cell Anaemia (SCA) among the Yorùbá in Southwestern Nigeria. I adopted qualitative methods (oral interview, key informant investigation) to source for primary data from the respondents. Convenience, purposive and snowball sampling methods were utilized in the selection of the study settings and the population. At the end, 44 respondents were sampled. The study population included the herbalists, Christian and Islamic Clergies, primary caregivers to the people living with SCA. Data collected were analysed using open code software package and ethnographic summaries. Important quotations from respondents during IDI and KII sessions were reported verbatim for further illustration of issues under focus. The findings demonstrated the ingenuity of Africans in using ethnomedical and spiritual healings to overcome the seemingly unending crises and accompanied excruciating pains in this disorder. Steps toward the usage started with interpretation of SCA which was heavily influenced by interpersonal relationship. Choices of treatment facilities were made out of available options. Occasionally, healing methods were combined in line with environmental dictates. Such combination included home remedies and hospital care. Traditional medicine and faith-based healing were most favoured by those who utilized more than one healthcare source. Herbal therapies, faith-based care, divination and home remedies received better patronage in the rural area. Continuous usage and perceived efficacy of these approaches therefore shows that the people have adequate knowledge of Sickle Cell Anaemia and a need for further appreciation of folkway in healing process.


2000 ◽  
Vol 111 (4) ◽  
pp. 1194-1197 ◽  
Author(s):  
A. O. Emeribe ◽  
A. E. Udoh ◽  
M. H. Etukudoh ◽  
C. C. Okany ◽  
M. Kehinde ◽  
...  

2020 ◽  
Vol 21 (1) ◽  
pp. 33-43 ◽  
Author(s):  
Prasuja Rokkam ◽  
Shailender Gugalavath ◽  
Deepak Kakara Gift Kumar ◽  
Rahul Kumar Vempati ◽  
Rama Rao Malla

Glioma-associated oncogene homolog 1 (GLI1) is reported as an amplified gene in human glioblastoma cells. It is a krupple like transcription factor, belonging to the zinc finger family. The basic function of GLI1 is normal neural development at various stages of human. The GLI1 gene was first mapped on the chromosome sub-bands 12q13.3-14.1. Further, single nucleotide polymorphism is mostly observed in translating a region of 5’ and 3’- UTR of GLI1 gene in addition to two post-transcriptional splice variants, GLIΔN and tGLI. Additionally, it also regulates a plethora of gene which mediates crucial cellular processes like proliferation, differentiation, oncogenesis, EMT, and metastasis. It also regulates tumor tolerance, chemoresistance, and radioresistance. Aberrant expression of GLI1 predicts the poor survival of breast cancer patients. GLI1 is an essential mediator of the SHH signaling pathway regulating self-renewal of stem cells, angiogenesis, and expression of FOXS1, CYR61. GLI1 mediated HH pathway can induce apoptosis. Hence, GLI1 can be a future diagnostic, prognostic marker, and as well as a potent target of therapeutics in breast cancer.


2019 ◽  
Vol 1 (Supplement_1) ◽  
pp. i7-i7
Author(s):  
Jiaojiao Deng ◽  
Sophia Chernikova ◽  
Wolf-Nicolas Fischer ◽  
Kerry Koller ◽  
Bernd Jandeleit ◽  
...  

Abstract Leptomeningeal metastasis (LM), a spread of cancer to the cerebrospinal fluid and meninges, is universally and rapidly fatal due to poor detection and no effective treatment. Breast cancers account for a majority of LMs from solid tumors, with triple-negative breast cancers (TNBCs) having the highest propensity to metastasize to LM. The treatment of LM is challenged by poor drug penetration into CNS and high neurotoxicity. Therefore, there is an urgent need for new modalities and targeted therapies able to overcome the limitations of current treatment options. Quadriga has discovered a novel, brain-permeant chemotherapeutic agent that is currently in development as a potential treatment for glioblastoma (GBM). The compound is active in suppressing the growth of GBM tumor cell lines implanted into the brain. Radiolabel distribution studies have shown significant tumor accumulation in intracranial brain tumors while sparing the adjacent normal brain tissue. Recently, we have demonstrated dose-dependent in vitro and in vivo anti-tumor activity with various breast cancer cell lines including the human TNBC cell line MDA-MB-231. To evaluate the in vivo antitumor activity of the compound on LM, we used the mouse model of LM based on the internal carotid injection of luciferase-expressing MDA-MB-231-BR3 cells. Once the bioluminescence signal intensity from the metastatic spread reached (0.2 - 0.5) x 106 photons/sec, mice were dosed i.p. twice a week with either 4 or 8 mg/kg for nine weeks. Tumor growth was monitored by bioluminescence. The compound was well tolerated and caused a significant delay in metastatic growth resulting in significant extension of survival. Tumors regressed completely in ~ 28 % of treated animals. Given that current treatments for LM are palliative with only few studies reporting a survival benefit, Quadriga’s new agent could be effective as a therapeutic for both primary and metastatic brain tumors such as LM. REF: https://onlinelibrary.wiley.com/doi/full/10.1002/pro6.43


Author(s):  
Menha Swellam ◽  
Hekmat M EL Magdoub ◽  
May A Shawki ◽  
Marwa Adel ◽  
Mona M Hefny ◽  
...  

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