Sunday, March 28, 2010
Prospectus Workshop Summary
It was a pleasure reading the work of the members in my group, and also an education, since our interests lie in different areas of science. I did my best to give helpful and constructive criticism, although my classmates needed very little help. The quality of their work was impressive! I did give some helpful (I hope) suggestions about the methodological approach of the Literature Review, as well as pointing out a few grammatical erros, but other than that, there were no major areas of concern within my group. For myself, I worried mostly that my prospectus was too long and technical and that it would not be interesting enough. None of my group mates made any comments to that effect, so I left it pretty much intact except for some minor changes before posting my final paper as a Google doc. One of the things that was a bit cumbersome was some of the reformatting required when utilizing the wiki and google docs. All in all, it was a fairly painless process. The most difficult task for me was actually coming up with the questions for the review comments on the Research Design. The whole process has made me more confident with writing that is more technical than creative in nature. I think I've learned a great deal from this project.
Saturday, March 20, 2010
Research Problem
I don't think I posted this previously, so I'm going to go ahead and post it prior to inclusion in my Draft Research Prospectus (even though it still needs some work):
Autism or Autism Spectrum Disorder (ASD) is a prevalent neurological disorder, facing millions of children worldwide. Diagnosis is typically made in early childhood by trained professionals, based on a scale of specific characteristics established by the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview – Revised (ADI-R), which developed only as recently as the 1990s. ASD can often be overwhelmingly devastating, with impairments in language, perception, cognitive development, and social interactions. (Abrahams and Geschwind 2008)
Identification of the cause(s) of ASD remains elusive. Unfortunately, many parents forego important immunizations for their children for fear that they will cause autism. However, a link between childhood immunizations and autism has not been proven. Rather, current scientific studies have indicated that there are possible genetic linkages which increase the susceptibility to the disorder, although environmental factors have not been completely ruled out. Chromosomal abnormalities, although rare, have also been shown to be a factor. (Weiss and Arking 2009) Additionally, there appears to be a crossover of genetic linkages between ASD and other neurological disorders, such as Obsessive-Compulsive Disorder and mental retardation. (Gregory et al 2009)
Several key questions need to be answered in order to effectively attack the problem of autism spectrum disorders. Can autism be diagnosed, and if so, how early? Is it possible that one day genetic counselors will able to identify factors during pregnancy? Could a test, similar to the PKU test conducted on newborns be developed in order to provide early intervention? Does genetic risk act alone or in concert with environmental factors?
It is clear that, although significant findings have been promising, more studies that involve both genetic and environmental factors are needed to narrow the focus. (Abrahams and Geschwind 2008) The rates of autism related disorders are clearly on the rise, and although we have been able to find effective therapies, the best outcomes require early diagnosis, early intervention and if possible, prevention. This proposal seeks to conduct a study which will address each of these issues equally.
Bibliography
Abrahams BS, Geschwind BS. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. [Internet] 2008 May:9(5):341-355. [cited 2010 Feb 26] Available from: http://www.nchi.nlm.nih.gov/entrez/query.fcgi?db=gene. Doi:10.1038/nrg2346.
Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, Lintas C, Abramson RK, Wright HH, Ellis P, et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Medicine. [Internet] 2009, 7:62 [cited 2010 Feb 26] Available from: http://biomedcentral.com/1741-7015/7/62. Doi:10.1186/1741-7015-7-62.
Weiss LA, Arking DE & The Gene Discovery Project of Johns Hopkins & the Autism Consortium. A genome-wide linkage and association scan reveals novel loci for autism. Nature [Internet] 2009 8 Oct, 461. [cited 2010 Feb 26] Available from: http://nature.com/nature08490. Doi:10.1038/nature08490.
Autism or Autism Spectrum Disorder (ASD) is a prevalent neurological disorder, facing millions of children worldwide. Diagnosis is typically made in early childhood by trained professionals, based on a scale of specific characteristics established by the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview – Revised (ADI-R), which developed only as recently as the 1990s. ASD can often be overwhelmingly devastating, with impairments in language, perception, cognitive development, and social interactions. (Abrahams and Geschwind 2008)
Identification of the cause(s) of ASD remains elusive. Unfortunately, many parents forego important immunizations for their children for fear that they will cause autism. However, a link between childhood immunizations and autism has not been proven. Rather, current scientific studies have indicated that there are possible genetic linkages which increase the susceptibility to the disorder, although environmental factors have not been completely ruled out. Chromosomal abnormalities, although rare, have also been shown to be a factor. (Weiss and Arking 2009) Additionally, there appears to be a crossover of genetic linkages between ASD and other neurological disorders, such as Obsessive-Compulsive Disorder and mental retardation. (Gregory et al 2009)
Several key questions need to be answered in order to effectively attack the problem of autism spectrum disorders. Can autism be diagnosed, and if so, how early? Is it possible that one day genetic counselors will able to identify factors during pregnancy? Could a test, similar to the PKU test conducted on newborns be developed in order to provide early intervention? Does genetic risk act alone or in concert with environmental factors?
It is clear that, although significant findings have been promising, more studies that involve both genetic and environmental factors are needed to narrow the focus. (Abrahams and Geschwind 2008) The rates of autism related disorders are clearly on the rise, and although we have been able to find effective therapies, the best outcomes require early diagnosis, early intervention and if possible, prevention. This proposal seeks to conduct a study which will address each of these issues equally.
Bibliography
Abrahams BS, Geschwind BS. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. [Internet] 2008 May:9(5):341-355. [cited 2010 Feb 26] Available from: http://www.nchi.nlm.nih.gov/entrez/query.fcgi?db=gene. Doi:10.1038/nrg2346.
Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, Lintas C, Abramson RK, Wright HH, Ellis P, et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Medicine. [Internet] 2009, 7:62 [cited 2010 Feb 26] Available from: http://biomedcentral.com/1741-7015/7/62. Doi:10.1186/1741-7015-7-62.
Weiss LA, Arking DE & The Gene Discovery Project of Johns Hopkins & the Autism Consortium. A genome-wide linkage and association scan reveals novel loci for autism. Nature [Internet] 2009 8 Oct, 461. [cited 2010 Feb 26] Available from: http://nature.com/nature08490. Doi:10.1038/nature08490.
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