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Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be … recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be … that they never have any problems from the disorder. Type 2 and 3 do affect the nervous system. Type 2 causes serious …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… the impact and functional basis of risk variants for type 2 diabetes (T2D). That information can both provide predictive …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… endocrine cancer syndrome, and most recently, genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney diseases, in different … MHO-10 10 MAO controls: MAO-01 through MAO-10 Sample type: serum The Africa America Diabetes Mellitus (AADM) Study … is the longest running genetic epidemiology study of type 2 diabetes in Africa. The purpose of this project is to map …
Fact Sheet
Learn about the different types of hemoglobin.
… stem cells) are cells that can develop into any type of blood cell in your body, such as white blood cells, …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… disorders, in particular hypertension, obesity and diabetes, are non-communicable conditions of major public … studies. Recently, he led the genome wide analysis for type 2 diabetes in the Africa America Diabetes Mellitus (AADM) …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… aim to gauge if genomics can be used to help diagnose diabetes, keep heart disease patients out of hospitals and … mistaken for the more common types of diabetes, such as type 1 and type 2 diabetes. These patients often receive inadequate …
Educational Resources
Deletion is a type of mutation involving the loss of genetic material.
… Deletion … Deletion is a type of mutation involving the loss of genetic material. … … DNA, Chromosome … A deletion, as related to genomics, is a type of mutation that involves the loss of one or more … to an entire piece of a chromosome. … Deletion is a type of mutation involving the loss of genetic material. … …
Educational Resources
A sex chromosome is a type of chromosome that participates in sex determination.
… Sex Chromosome … A sex chromosome is a type of chromosome that participates in sex determination. … X Chromosome, Y Chromosome, Cell … A sex chromosome is a type of chromosome involved in sex determination. Humans and … while males have one X and one Y. … A sex chromosome is a type of chromosome that participates in sex determination. … …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… Skin cancer is the most common type of cancer in the United States. An estimated 40 to 50 … cancer at least once. … Skin cancer is the most common type of cancer in the United States. An estimated 40 to 50 … up most of the epidermis. Melanoma is the most serious type of skin cancer. It occurs when melanocytes, the pigment …