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The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… Genomes Gene Editing in Dogs Boosts Hope for Kids with Muscular Dystrophy Gene Variations Linked to Severity of Zika-Related …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… hemophilia, chronic granulomatous disease and Duchenne muscular dystrophy. Humans have two sets of chromosomes, one set from …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… typically inherited diseases, such as cystic fibrosis and muscular dystrophy. "Advances in DNA sequencing are creating …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… Some rare PTVs can lead to diseases, such as Duchenne muscular dystrophy. Each person's genome carries about 100 PTVs, …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
… los músculos (consulte: Aprendizaje sobre la distrofia muscular de Duchenne ). Hay genes individuales que también …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Cancer Center Chloe Farkas, MGC Aimee Martin, MGC  Muscular Dystrophy Association (MDA) Clinic  Jan Blancato, Ph.D.  …
File
… Asn Ser lle STS Markers A Met Lys Arg A G C Development Muscular-dystrophy New strands Sequence-tagged Genome U Asp of yeast …
MINC
Genomics is relevant to the practice of all nurses.
… was highly suggestive of a rare disease called Myotonic Dystrophy Type 2. It was recommended I have genetic testing … test to confirm what was suspected, that I had Myotonic Dystrophy. She and I discussed the benefits and risks of …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Testosterone therapy is used to increase strength, promote muscular development, grow body hair, improve mood and self …
Talking Glossary
El SÃndrome del X Frágil es un trastorno hereditario que afecta mayormente a los varones.