Assignment 1: Genetic Information Research
Genetic Information Resources Genetic information is complex and overwhelming and there are many resources available via the internet containing detailed facts on the subject. For this assignment, I will summarize information that is available from various genetic websites and who might find these types of sites useful. I will also select two abnormalities of sex chromosomes and two gene-linked abnormalities from Chapter 2 of our text entitled Child Development (Santrock, 2014) and use the information from the websites to provide a brief report on each abnormality. When browsing through the websites of GeneTests (www.geneclinics.org), Online Mendelian Inheritance in Man (OMIM) (www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM), and National Center for Biotechnology Information (NCBI) (www.ncbi.nlm.nih.gov), I noted that they all provide genetic knowledge that is updated daily. For example,
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GeneTests has summarized statistics and graphs that you can immediately view on the main page of recent data on various items such as genetic tests. All of the sites have expanded and grown throughout the years as technology has advanced and information is increasingly accessible. There are a variety of sections you can review that contain in-depth details about individual genes, disorders, the locations of international laboratories and clinics, and various types of tests. There are resources such as news items, other gene information websites to link to, databases, journal articles, and a Genetics Professionals Directory. You can watch a tutorial, register to learn via webinars or in-person courses, and find conferences and workshops to attend. GeneTests is a business unit of BioReference Laboratories and the leadership team includes the Founding Medical Director, a Commercial Director, and a Program Manager. OMIM is managed by Dr. Ada Hamosh and authored and edited by MD and PhD science writers at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University and NCBI is managed by a Board of Scientific Counselors and several branches, including an Information Engineering Branch and a Computational Biology Branch. All of the websites provide materials for anyone to reuse and distribute and were developed primarily for researchers, healthcare providers, genetic counselors, and physicians. Two abnormalities of the sex chromosomes that are listed in chapter two of Child Development (Santrock, 2014) are Fragile X syndrome and Turner Syndrome.
Fragile X syndrome is more common in males, is caused by a mutation of the FMR1 gene, and occurs when the X chromosome becomes compressed and typically breaks. This results in a physical appearance that often includes macrocephaly, soft skin, a long face, a palate that is high-arched, and ears that are prominent. Neurological outcomes can include moderate to severe mental deficiency, seizures, autistic tendencies, and hyperactivity (OMIM, 2016). Turner Syndrome is related to the HUWE1 gene and is a disorder that occurs in females where an X chromosome is missing or part of one of the X chromosomes is omitted. This syndrome is associated with impaired perception and visual-spatial abilities and short stature. Studies have indicated one or more genes present in the psuedoautosomal region (PAR) appear to be restricted in regards to bone cells and marrow and insufficiency of certain genes on the X chromosome leads to short
stature. Two gene-linked abnormalities are diabetes and sickle-cell anemia. According to GeneTests.org, testing such as Mito Genome Sequencing and Deletion Testing or a Comprehensive Motochondrial Nuclear Gene Panel can be used to detect diabetes. Diabetes is a condition where to body does not produce enough insulin on its own, or use insulin well, which results in the abnormal metabolism of sugar and high levels of blood glucose. This disease occurs in approximately 1 in 2,500 births, can lead to numerous serious complications in a person’s life, such as nephropathy, renal disease, and retinopathy, and unless treated with insulin, can be fatal. There is a higher risk of type 2 diabetes occurring, which is the more common type, if a person is obese, older, has a sedentary lifestyle, and/or has a family history of diabetes. Sickle cell anemia is found most often in African Americans and is a genetic disease that affects how the red blood cells function. It is caused by a recessive gene and is the result of a mutant beta globin (HBB). Red blood cells are normally disc-shaped and are responsible for carrying oxygen throughout the body to other cells. A person with sickle cell anemia has red blood cells that are shaped like a hook or “sickle” which are unable to properly carry oxygen and the cells end up rapidly dying. This causes anemia and inadequate oxygen for all of the body’s cells. It is a multi-system disease that entails many acute episodes of illness, hospitalizations, and progressive damage to the organs. In conclusion, researching and finding genetic information can be daunting and there are a variety of websites providing accurate and thorough information that is helpful.
GeneTests has summarized statistics and graphs that you can immediately view on the main page of recent data on various items such as genetic tests. All of the sites have expanded and grown throughout the years as technology has advanced and information is increasingly accessible. There are a variety of sections you can review that contain in-depth details about individual genes, disorders, the locations of international laboratories and clinics, and various types of tests. There are resources such as news items, other gene information websites to link to, databases, journal articles, and a Genetics Professionals Directory. You can watch a tutorial, register to learn via webinars or in-person courses, and find conferences and workshops to attend. GeneTests is a business unit of BioReference Laboratories and the leadership team includes the Founding Medical Director, a Commercial Director, and a Program Manager. OMIM is managed by Dr. Ada Hamosh and authored and edited by MD and PhD science writers at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University and NCBI is managed by a Board of Scientific Counselors and several branches, including an Information Engineering Branch and a Computational Biology Branch. All of the websites provide materials for anyone to reuse and distribute and were developed primarily for researchers, healthcare providers, genetic counselors, and physicians. Two abnormalities of the sex chromosomes that are listed in chapter two of Child Development (Santrock, 2014) are Fragile X syndrome and Turner Syndrome.
Fragile X syndrome is more common in males, is caused by a mutation of the FMR1 gene, and occurs when the X chromosome becomes compressed and typically breaks. This results in a physical appearance that often includes macrocephaly, soft skin, a long face, a palate that is high-arched, and ears that are prominent. Neurological outcomes can include moderate to severe mental deficiency, seizures, autistic tendencies, and hyperactivity (OMIM, 2016). Turner Syndrome is related to the HUWE1 gene and is a disorder that occurs in females where an X chromosome is missing or part of one of the X chromosomes is omitted. This syndrome is associated with impaired perception and visual-spatial abilities and short stature. Studies have indicated one or more genes present in the psuedoautosomal region (PAR) appear to be restricted in regards to bone cells and marrow and insufficiency of certain genes on the X chromosome leads to short
stature. Two gene-linked abnormalities are diabetes and sickle-cell anemia. According to GeneTests.org, testing such as Mito Genome Sequencing and Deletion Testing or a Comprehensive Motochondrial Nuclear Gene Panel can be used to detect diabetes. Diabetes is a condition where to body does not produce enough insulin on its own, or use insulin well, which results in the abnormal metabolism of sugar and high levels of blood glucose. This disease occurs in approximately 1 in 2,500 births, can lead to numerous serious complications in a person’s life, such as nephropathy, renal disease, and retinopathy, and unless treated with insulin, can be fatal. There is a higher risk of type 2 diabetes occurring, which is the more common type, if a person is obese, older, has a sedentary lifestyle, and/or has a family history of diabetes. Sickle cell anemia is found most often in African Americans and is a genetic disease that affects how the red blood cells function. It is caused by a recessive gene and is the result of a mutant beta globin (HBB). Red blood cells are normally disc-shaped and are responsible for carrying oxygen throughout the body to other cells. A person with sickle cell anemia has red blood cells that are shaped like a hook or “sickle” which are unable to properly carry oxygen and the cells end up rapidly dying. This causes anemia and inadequate oxygen for all of the body’s cells. It is a multi-system disease that entails many acute episodes of illness, hospitalizations, and progressive damage to the organs. In conclusion, researching and finding genetic information can be daunting and there are a variety of websites providing accurate and thorough information that is helpful.