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News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Diseases Network , had unusual and unclassified disorders. “Our objective was to see if any of the 2,560 … mutations in the UBA1 gene. … VEXAS syndrome, inflammatory disorders, ubiquitylation, Undiagnosed Disease Program, David …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be … 30 million people in the United States; collectively, rare disorders are not so rare. Often, these disorders can cause very severe medical challenges. Fewer …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… broadened the traits and symptoms associated with known disorders, and offered insights into newly described disorders. The study was published in the American Journal of … can work, especially for identifying people with rare disorders who otherwise might not have been brought to …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… trimethylaminuria. … Yes. Trimethylaminuria is usually inherited in an autosomal recessive fashion, which means that … An electronic catalog of human genes and genetic disorders, developed by the National Center for Biotechnology … … What causes trimethylaminuria? … Is trimethylaminuria inherited? … How is trimethylaminuria diagnosed? … How is …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… (mutation) in a gene, called the DMD gene that can be inherited in families in an X-linked recessive fashion, but … 1 in 3500 male births worldwide. Because this is an inherited disorder, risks include a family history of … skeletal deformities frequently contribute to breathing disorders. Cardiomyopathy (enlarged heart) occurs in almost …
Educational Resources
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.
… a set of DNA variations, or polymorphisms, that tend to be inherited together. … Haplotype, Chromosomes, Single … of genomic variants (or polymorphisms) that tend to be inherited together. A specific haplotype typically reflects a … a set of DNA variations, or polymorphisms, that tend to be inherited together. … Educational Resources …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve … funds new effort to discover genetic causes of single-gene disorders … NIH will award nearly $80 million to support the …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… are studied to see whether the translocation was inherited. … Treatment for Down syndrome is based on the … live independently. … Most cases of Down syndrome are not inherited, but occur as random events during the formation of … chromosomal condition related to chromosome 21. … Genetic Disorders …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira … fit for me, and I was hoping to help patients with rare disorders. … Soo: What was it like growing up in Paraguay? … genomics unit? Ferreira: We study specific rare skeletal disorders, and we have a few different goals. We’re trying to …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
… BRCA2 are the first two genes found to be associated with inherited forms of breast cancer. … Breast Cancer, Prostate … BRCA2 are the first two genes found to be associated with inherited forms of breast cancer and ovarian cancer. People … When one of the two copies becomes inactive due to an inherited mutation, a person’s cells are left with only one …