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1 - 10 of 36 for “genome structure” for “genome structure”
Genomics and Medicine
Accomplishments in Genomic Medicine (OLD)
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
Genomics and Medicine
Accomplishments in Genomic Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
Genomics and Medicine
Genomic Medicine Year in Review
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… tool for all ancestries Broader access to clinical genome sequencing benefits diverse individuals with rare … for children with suspected cancer from routine whole-genome sequencing Clinical signatures of genetic epilepsies … helps to prioritize critically ill newborns for whole-genome sequencing Population genomic screening for common …
For Patients and Families
Genetic Disorders
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning …
News Release
NIH statement on new FDA-approved gene therapies for sickle cell disease
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… effective therapies. For example: NIH investments in genome sequencing technology have led to the costs of whole genome sequencing being over a million-fold less expensive … —Eric Green, M.D., Ph.D., Director of the National Human Genome Research Institute   "We have made some exciting …
Genetic Disorders
About Methylmalonic Acidemia
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… and cholesterol. Mutations in the MUT gene alter the structure or reduce the amount of the enzyme, which prevents … as "mut0". When mutations in the MUT gene change the structure of methylmalonyl CoA mutase but do not eliminate …
Genetic Disorders
About Sickle Cell Disease
Sickle cell disease is a group of inherited red blood cells disorders.
Genetic Disorders
About Holoprosencephaly
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases …
Genetic Disorders
About Velocardiofacial Syndrome
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
Genetic Disorders
About Poland Anomaly
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.