University of Washington, Washington State
I watched a video on Team Inspire, (for those of you who are unfimilar with this discussion group for people and family of people with NF). It was a very well done video showing the faces of a few people with NF. Please watch; http://www.youtube.com/watch?v=IU0neb6YPhE&feature=share
At the end of the video it mentions the University of Washington and the extensive NF research and clinic headed by Dr. Gutman, Neurologist.
Please check into it for those of you who live near or in Washington State. If you would like to join the NF Discussion Group, please go to this website and sign up;
www.nfnetwork.org/
At the end of the video it mentions the University of Washington and the extensive NF research and clinic headed by Dr. Gutman, Neurologist.
Please check into it for those of you who live near or in Washington State. If you would like to join the NF Discussion Group, please go to this website and sign up;
www.nfnetwork.org/
The Children's Tumor Foundation offers a Guide For Teens, who have NF.
Contact; www.ctf.org
WHAT’S NEW AT THE MAYO CLINIC FOR NEUROFIBROMATOSIS
Genetic testing
Definition
Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes or alterations in your genes that may cause illness or disease.
Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result doesn't guarantee that you won't have a certain disorder.
Talking to your doctor or a genetic counselor about what you will do with the results is an important step in the process of genetic testing
Why it's done
Several types of genetic testing are done for different reasons:
• Diagnostic testing. If you have symptoms of a disease that may be caused by genetic alterations, genetic testing can reveal if you have the suspected disorder. Examples of disorders for which genetic testing may be used to confirm a diagnosis include adult polycystic kidney disease, iron overload (hemochromatosis) and Charcot-Marie-Tooth disease.
• Presymptomatic and predictive testing. If you have a family history of a genetic condition, undergoing genetic testing before you have symptoms may show if you're at risk of developing that condition.
• Carrier testing. If you or your partner has a family history of a genetic disorder, such as sickle cell anemia or cystic fibrosis, you may choose to have genetic testing before you have children. This type of genetic testing may also be useful if you are in an ethnic group that has a high risk of a particular genetic disorder. Genetic testing can determine if you carry a copy of an altered gene that would put a child at risk of developing the disorder.
• Pharmacogenetics. If you have a particular health condition or disease, this type of genetic testing may help determine what medication and dosage will be most effective and beneficial for you.
• Prenatal testing. If you are pregnant, tests are available that can detect some types of abnormalities in your fetus's genes. Spina bifida and Down syndrome are two genetic disorders that are often screened for as part of prenatal genetic testing.
• Newborn screening. This is the most common type of genetic testing. In the United States, all states require that newborns be tested for certain gene abnormalities that cause specific conditions. This type of genetic testing is important because if results show there's a disorder such as congenital hypothyroidism or phenylketonuria (PKU), care and treatment can begin right away.
Preimplantation testing. This technique may be used to lower the chances that you'll have a child with a particular genetic disorder. The test, also called preimplantation genetic diagnosis (PGD), requires that you conceive a child through in vitro fertilization. With in vitro fertilization, eggs are removed from a woman and sperm are collected from a man. The eggs are then fertilized with the sperm outside the body to create embryos. The embryos are then screened for genetic abnormalities. Embryos without abnormalities are implanted in the uterus in hopes of achieving pregnancy.
HELLO FOLKS, I had been doing research for NF, and I came upon this article regarding Osteoporosis for people with NF. It is an older article by Beth Pletcher, MD., regarding persons with NF could have a decrease in bone mineral density. I got this article off the E-medicine from WebbMD.
Please read on.
Genetics of Neurofibromatosis
Author: Beth A Pletcher, MD, Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey Contributor Information and Disclosures
Updated: Nov 11, 2009
Osteoporosis with statistically significant decreases in bone mineral density can be identified in individuals with neurofibromatosis type 1 and may even be seen in childhood.6 Whereas numerous metabolic pathways that affect bone metabolism have been implicated in the pathogenesis of bony abnormalities in people with neurofibromatosis, studies in children and teens with neurofibromatosis type 1 have provided evidence for increased rates of bone resorption as a cause for osteopenia.7 Emerging evidence also suggests that vitamin D deficiency, combined with this higher than normal rate of bone turnover, contributes to the decreased bone mineral density in patients with neurofibromatosis type 1.8 Judicious vitamin D supplementation may prove beneficial for patients with neurofibromatosis type 1 who have vitamin D deficiency or evidence of osteopenia.
