Congenital Hearing Loss

nf 1 chromosome :: Article Creator Inheritance And Genetics Of Neurofibromatosis Type 1 (NF1) Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by an alteration – called a mutation – in the NF1 gene, which is located on chromosome 17. The NF1 gene contains a code of instructions for making a protein called neurofibromin, which is produced in many cells, including nerve cells and specialized cells surrounding nerves (Schwann cells). The neurofibromin protein acts as a tumor suppressor, preventing cells from growing and dividing too rapidly. The NF1 gene mutation leads to the production of a nonfunctional or absent neurofibromin protein that is unable to regulate cell growth and division, resulting in the growth of neurofibromas (skin tumors) along nerves throughout the body. Inherited Mutations All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that only one o...

define hemophilia b :: Article Creator What's Next After Pfizer's Gene Therapy For Hemophilia B Is Halted? Gene therapy has long been touted as a revolutionary hope for people with hemophilia B, promising a one-time treatment to drastically reduce — or even eliminate — the need for frequent infusions. Yet that hope has hit another roadblock. Pfizer announced last week that it's halting development of Beqvez (fidanacogene elaparvovec-dzkt), its gene therapy for hemophilia B that had been approved by the U.S. Food and Drug Administration. Coming after Pfizer discontinued its involvement with a hemophilia A gene therapy in development, this decision has left the bleeding disorders community grappling with uncertainty about the future of gene therapy and access to cutting-edge treatments. As someone with mild hemophilia B, I've watched gene therapy's rise with intrigue but never with the expectation that it would apply to me. T...

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down syndrome gene defect :: Article Creator Assessing Gene Therapy Approaches For Down Syndrome Decades ago, researchers showed that Down syndrome (also known as trisomy 21), was caused when individuals carried an extra copy of chromosome 21. Down syndrome is also the most common genetic cause of cognitive dysfunction. But little research has explored how gene editing tools could potentially be used to treat this condition. A new study reported in PNAS Nexus sought to do that, even though the applications of gene therapy in humans are still quite limited. In this proof-of-principle study, the researchers aimed to cut or cleave the extra copy of chromosome 21 with CRISPR-Cas9 gene editing tools. They did so in cell lines such as skin fibroblasts and pluripotent stem cells. One challenge with this approach is that the researchers could not simply eliminate one of the copies of chromosome 21; they had to take one away such that one from each par...

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thalassemia microcytic hypochromic anemia :: Article Creator HEART DISEASE IN THALASSEMIA HETEROZYGOTES WITH SICKLE CELL ANEMIA The purpose of this study was to ascertain whether thalassemia heterozygotes (α thal) who have sickle cell anemia (SCA) suffer fewer cardiac effects of their SCA due to an increased oxygen carrying capacity or decreased sickling. Echocardiograms and graded, maximal exercise tests were performed in 22 subjects withα thal and SCA, and in 22 age and sex matched controls (C) with SCA alone. The patients ranged in age from 8-32 years. None were ill within two weeks of study. No significant differences were found for any of the following measurements: age (α thal 19.0 years, C 18.5); hemoglobin (α thal 8.8 gm%, C 8.2); hemoglobin F (α thal 6.6%, C 7.8); body surface area (α thal 1.43 M2, C 1.45) heart rate (α thal 78.6, C 80.3); left ventricular (LV) dimension (α thal 5.38 cm., C 5.42); LV wall thickness (α thal 0.91 cm., C 0.92)...

neurofibromatosis testing :: Article Creator 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 Laboratory In 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 charact...

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inherited autosomal recessive disease :: Article Creator Human Genetics: Concepts And Application Because of natural selection, different alleles are more likely to confer a survival advantage in different environments. Cycles of infectious disease prevalence and virulence often reflect natural selection. Balanced PolymorphismIf natural selection eliminates individuals with detrimental phenotypes from a population, then why do harmful mutant alleles persist in a gene pool? A disease can remain prevalent when heterozygotes have some other advantage over individuals who have two copies of the wild type allele. When carriers have advantages that allow a detrimental allele to persist in a population, balanced polymorphism is at work. This form of polymorphism often entails heterozygosity for an inherited illness that protects against an infectious illness. Examples are fascinating. Sickle Cell DiseaseSickle Cell disease is an autosomal recessive dis...

myelodysplastic syndrome bone marrow :: Article Creator Robin Roberts Marks 12 Years Since 'GMA' Return After Stem Cell Transplant Take the first step to sign up to become a bone marrow donor today. Visit www.Nmdp.Org/GMA50 to learn more about the registry. "Good Morning America" co-anchor Robin Roberts is marking 12 years since she returned to the anchor desk after receiving a lifesaving stem cell transplant to treat myelodysplastic syndrome, or MDS, a rare blood disorder that affects the bone marrow. Roberts still vividly remembers her long-awaited return to work in February 2013 and said her faith, family and friends played a large part in helping her get through her treatments and recovery. Robin Roberts returned to anchor Good Morning America, Feb. 20, 2013, almost six months after taking a medical leave of absence to undergo a bone marrow transplant for a rare blood disorder. Heidi Gutman/ABC Roberts' elde...