Search Results
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… often have access to up-to-date testing and technology, a large group of other healthcare providers and specialists to …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… as a risk factor for parkinsonism. She has spearheaded two large international collaborative studies regarding the …
Educational Resources
The term epigenome is derived from the Greek word epi which literally means "above" the genome.
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… the Library Core, he focused on employing genomic and cDNA libraries for genome research in genetic diseases. In 1993, … and transcript maps of the locus on 17q. The advent of large insert genomic libraries allowed the CGU to participate in physical mapping …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… technologies improve, new methods are required to make large-scale genomic edits. Such technologies would be … sequences and other portions of the genome that span large intervals. In a recent study, researchers devised a new and efficient method for making large-scale edits to the genomes of mouse embryonic stem …
Staff
Dr. Michael Smith is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
… topics of technologies for nucleic acid sequencing and synthetic nucleic acids. Dr. Smith earned Bachelor of Science …
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… have benefited from the creation and management of large, interdisciplinary 127 research collaborations. 128  … data that 250  8  keep pace with the generation of large and multidimensional datasets are needed; such 251 … 434 435 Enable the routine generation and use of synthetic nucleic acids in genomics 436 research. The …
File
… ed a concept for three RFAs: Nucleic Acid Sequencing , Synthetic Nucleic Acids , and a Coordinating Center RFA . The … and novel clinical application s. The goal of the new Synthetic Nucleic Acids RFA is to produce cheaper, more accurate , and longer oligonucleotide s and very large synthetic constructs of double strand DNA with base …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… changing, but the methods currently being used look for large changes in the gene ( deletion/duplication ) and … blood pressure, behavior changes, and delayed growth. A synthetic form of prednisilone, called Deflazacort, is used …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… loan, or order them online. National Network of Libraries of Medicine (NNLM) nnlm.gov/members Designed to help you find health information from libraries in your area. LinkOut …