Acquired von Willebrand Syndrome in Aortic Stenosis
Genetic Testing And Genetic Counseling For Neurofibromatosis Type 1 (NF1)
In most cases, a diagnosis of NF1 is made through a clinical diagnosis based on the presence of two or more of the six NIH diagnostic criteria for the disorder. However, sometimes a diagnosis of NF1 can't be made definitively based only on physical signs and symptoms – such as in cases of very young children who have developed café-au-lait spots but no other symptoms.
Advanced Genetic Testing for NF1 at the UAB Medical Genomics LaboratoryIn cases where a clinical diagnosis of NF1 is inconclusive or needs to be confirmed, genetic testing is currently available that can diagnose NF1 with 95% sensitivity by sequencing a person's NF1 gene to identify mutations. The UAB Medical Genomics Laboratory offers the most scientifically reliable, leading-edge genetic testing techniques currently available for the diagnosis and characterization of NF1 mutations. This state-of-the-art laboratory performs the highest volume of neurofibromatosis genetic testing in the world.
What is Legius Syndrome?Legius syndrome was discovered in the past several years. It is characterized by having multiple cafe-au-lait spots, and sometime skin fold freckles, indistinguishable from those that occur in NF1. It is not associated with tumors such as neurofibromas, optic gliomas, or malignant peripheral nerve sheath tumors. It is much less common than NF1, so genetic testing for a child with multiple cafe-au-lait spots begins with NF1 testing. If the NF1 test is negative, though, it may be helpful to test for mutation in the SPRED1 gene responsible for Legius syndrome.Based on a small blood sample from the affected individual, the test provides a full characterization of the NF1 mutation at the genomic DNA level. It's important to understand that while genetic testing can confirm the presence of an NF1 mutation, it can't predict the severity of the disorder. Comprehensive genetic testing for NF1 might be appropriate for the following individuals:
A genetic counselor – who has specialized training in medical genetics and counseling – can help families make informed decisions about whether genetic testing is right for them. The UAB Neurofibromatosis Program provides access to a team of experienced genetic counselors who can help families learn more about genetic testing for NF1 and provide support to assist in adapting to a new diagnosis.
Also, a genetic counselor can provide information and guidance in the following key areas:
Genetic Testing And Genetic Counseling For Neurofibromatosis Type 2 (NF2)
Neurofibromatosis type 2 is most often diagnosed based on the presence of physical symptoms that are part of the specific diagnostic criteria for the disorder. Genetic testing for the NF2 mutation is available and may be appropriate for some people, including those who want to confirm a clinical diagnosis or for family members who are at risk of developing NF2 and are interested in early detection.
Advanced Genetic Testing for NF2 at the UAB Medical Genomics LaboratoryBased on a small blood sample from the affected individual, genetic testing can diagnose NF2 with 90% sensitivity by sequencing a person's NF2 gene to identify mutations. The UAB Medical Genomics Laboratory offers the most scientifically reliable and advanced genetic testing techniques currently available for the diagnosis and characterization of NF2 mutations. This state-of-the-art laboratory performs the highest volume of neurofibromatosis genetic testing in the world.
It's important to know that while genetic testing can confirm the presence of an NF2 mutation in most cases, it can't predict the severity of the disorder. Genetic testing for NF2 might be appropriate for the following individuals:
A genetic counselor – who has specialized training in medical genetics and counseling – can help families make informed decisions about whether genetic testing is right for them. The UAB Neurofibromatosis Program provides access to a team of experienced genetic counselors who can help families learn more about genetic testing for NF2 and provide support to assist in adapting to a new diagnosis.
Also, a genetic counselor can provide information and guidance in the following key areas:
FDA Approves Drug For Neurofibromatosis
The US Food and Drug Administration has approved mirdametinib for the treatment of neurofibromatosis type 1 (NF1) in adults and children. The drug, developed by SpringWorks Therapeutics, is the first approved for treatment of NF1 in children and adults. It will be marketed under the name Gomekli.
Neurofibromatosis is a rare genetic condition in which tumors grow on Schwann cells, which act as insulation to protect nerve cells. "The Schwann cells are like your white plastic around your electric wires, and as soon as these cells touch, they stop proliferating," explains Annette Bakker, a pharmacologist and CEO of the Children's Tumor Foundation, a patient research nonprofit focused on NF1. But in people with NF1, once those cells touch, they don't stop proliferating "and you get these tumors that are formed on the nerves," Bakker says. NF1 is not explicitly a form of cancer, but she does call it a "cancer predisposition syndrome."
Mirdametinib treats NF by acting on the RAS signaling pathway involved in cell growth and differentiation. It inhibits mitogen-activated protein kinase enzymes, which when overactive are implicated in many cancers. When patients with NF1 take the drug, their tumors shrink by "50–60%," Bakker says.
The drug is a remarkable example of successful drug repositioning, in which drugs that have gone through Phase 1 clinical trials but are not approved continue to be explored, often for a new use, Bakker says. Pfizer had shelved the drug after it appeared that AstraZeneca would beat it to market with a competing drug. But mirdametinib still held value to the NF1 community, so the Children's Tumor Foundation lobbied Pfizer for access to the drug, which was then spun off to SpringWorks for further research.
Bakker hopes that more pharmaceutical companies will consider drug repositioning as a means to get lifesaving medication on the market. "What we need to do as a community is to think very carefully about a business model that incentivizes companies to let these drugs go," she says. "Because for the moment, it's still very dependent on goodwill."
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