According to science daily, scientists have been working on a cure for this type of muscular dystrophy and it is known as exon skipping, which is currently in clinical trial for Duchenne muscular dystrophy. This phenomenon involves short strands of synthetic DNA that are essentially used as a sort of molecular patch. This patch restores the production of the protein dystrophin, which ends up hiding the faulty piece of the dystrophin gene and allows a functional protein to be produced. The treatment will be injected intramuscular. Scientists believe this method will transform the severe disease of Duchenne muscular dystrophy to a much milder Becker muscular dystrophy.
“Genetic counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions.” (medterms.com) Genetic counselors are the professional that sit down with the parents of an affected child and go over step-by step the process to how they might have gotten the disorder and how to cope and prepare for the disorder. Personally, I believe the technology to help people find out if they are carrying or have a genetic disorder is absolutely amazing. The speaker we had in class informed us on how the system works and what a Genetic Counselor has to deal with in terms of patient care and follow up. There is a big responsibility as a counselor to make sure the child is well taken care of if he or she is diagnosed with a serious disorder such as sickle cell anemia, which she told us that it is one of the most common disorders they deal with.
Cystic fibrosis is caused by a recessive allele, which in this case, is the faulty gene. There is a 50% chance of your child being a CF carrier, whereas there is a 25% chance of your child not having cystic fibrosis or being a carrier. A carrier is a person that has inherited a genetic trait (in this case, cystic fibrosis) and does not show any symptoms of, or does not have the disease. They are able to pass the faulty gene onto their offspring, who then may have the disease or may just be a genetic carrier. Below is a punnet diagram showing the possible genotypes of you and Paul and how likely it is for your child to inherit cystic
April 16, 2012 Dear, Mr. and Mrs. Bond Part 1: Hi, my name is Romeo Knowles and I am a former employee at Pea 2 Inc. as a Genetic Counselor. I constructed a karyotype to find out if there was any mistakes in your baby genes. From my observation, your child does has a disease called trisomy 13. In other terms, Patau syndrome.
22 October 2007 cystic fibrosis Cystic fibrosis is caused by a faulty gene in the body called the ,"cystis fibrosis transmembrane conductance regulator". Or the cftr gene for short. To actually inherit cystic fibrosis, two genes one from either parent has to be passed on whilst still in the womb. If only one gene is inherited that person is a carrier of the disease and will not have any symptoms of cystic fibrosis.Cystic fibrosis is an autosomal recessive disorder which means it is inherited from either parent. When both parents are carriers of the cystic fibrosis gene whithin each pregnancy there is a one in four chance of having a child with cystic fibrosis,a one in two chance of having a child who is a carrier,a one in four chance
Mercedes Kim Mrs. Eckhart Child Development November 2, 2012 Ambiguous Genitalia Male? Female? Approximately one in one thousand babies are born with ambiguous genitalia. This report will explain the birth defect in details and tell what can be done to treat those with this condition. I will also tell you about ways to help to deal with the problems that can go along with this birth defect such as identity problems.
University of Maryland Medical Center. Retrieved May 7, 2014, from http://umm.edu/health/medical/reports/articles/multiple-sclerosis On the Risk of Multiple Sclerosis According to Age at. (n.d.). National Center for Biotechnology Information . Retrieved May 6, 2014, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1798906/pdf/brmedj02667-0015.pdf Pregnancy hormone could offer simple treatment for MS. (n.d.).
Lesson 03.06 Mutation Lianna Jones 8/11/15 Mrs. Swider 1.Describe how mutations lead to genetic variations. By producing random changes in an organism's genetic code. This causes a different protein to be produced, or none at all. Usually has a negative effect, due to an important protein, e.g. an enzyme, not being produced, so the organism cannot do a certain thing (e.g.
Whereas if my child gets one of the viruses or diseases from not being vaccinated it can be fatal to not only my child but spread to other children who are not vaccinated. The evidence to support my viewpoint is that there is still no concrete evidence supporting the theory that getting your child vaccinated causes things such as autism and that it will weaken their immune systems. I read “According to a 2003 report by researchers at the Pediatric Academic Society, childhood vaccinations in the US prevent about 10.5 million cases of infectious illness and 33,000 deaths per year.”( "Vaccines ProCon.org", n.d., p. xx) If you were to not get your child their vaccinations they are at risk for getting the disease/virus and this could be fatal, and it is not only bad for them but could spread to other children as well this increases the risk of spreading the disease whereas if they were all vaccinated there would be no risk of
• Originally called them “mongoloids” but was changed to “down syndrome” • Caused by a copy of a chromosome • Physical signs: - one crease in the individual’s hand - flat face with an upward slant to the eye - short neck - small hands and feet • There are many health conditions that are often seen in people with down syndrome due to having an extra copy of Chromosome 21. • National Institute of Child Health and Human Development houses a good website which contains much information about both the background of the disability and ways to make it work for the individual. • There are prenatal tests to discover whether a child will have down syndrome. This leads into the debate on abortion and prevention of