Search Results
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… system involvement. Several other therapies including oral treatments are in various stages of development. Other …
File
… Oral History Collection: Charles Rotimi Transcript …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… C virus (HCV), HIV, estrogens (such as those used in oral contraceptives and prostate cancer treatment), and …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Zlott D, Phillips J, Wroblewski GA, Handel D, Berger AM. Oral ketamine in a palliative care setting: A review of the …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… just before and during menstrual periods, after taking oral contraceptives, and around menopause. … People with …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… NHGRI History of Genomics Program continues to showcase oral history interviews with prominent genomicists – … in October 2020. I encourage you to check out the latest oral histories by Ari Patrinos , Karen Rothenberg , Michael …
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… conditionsSkin:eczema, psoriasis, acneGI/oral:esophageal adenocarcinoma, necrotizing enterocolitis, … protocols for collection/storage of samples•Skin•Oral•GI tract•Urogenital tract (both vagina and …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… leading to severe proteinuria and hematuria. Oral administration of the sialic acid precursor …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… infections (acute otitis media), pneumonia or bronchitis, oral thrush (a type of yeast that multiplies rapidly, …
Policy Issues
En una decisión histórica en junio de 2013, el Tribunal Supremo determinó que el ADN en su forma natural no puede ser patentado.