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Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… he studied the developmental genetics of mouse coat color pigmentation . subsequently, dr. pavan joined nhgri in 1994, … his primary areas of interest include the development and diseases of melanocytes, the cells responsible for pigmentation of skin and hair, as well as the lysosomal …
Staff
Dr. William A. Gahl is the Clinical Director for the National Human Genome Research Institute and the director of the NIH Undiagnosed Diseases Program.
… rare metabolic disorders and the discovery of new genetic diseases. he elucidated the basic defects in cystinosis and … section have studied rare disorders and discovered new diseases , employing the disciplines of biochemistry, cell … mh, gahl wa, brooks bp. nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous …
Staff
Dr. Stacie Loftus is a staff scientist in the Genomics, Development and Disease Section of NHGRI's Genetic Disease Research Branch.
… results in the variation in hair color, skin color and pigmentation pattern observed across evolutionarily diverse … over 50 distinct snp loci associated with either pigmentation phenotypes or susceptibility to melanoma. the … potential to respond to therapeutic interventions when diseases arise … loftus sk, morris ja, carstea ed, gu jz, …
Staff
Dr. Suzanne Hart is an associate investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… molecular and biochemical techniques to understand genetic diseases of the teeth, the oral cavity and the kidney. … dr. … molecular and biochemical techniques to understand genetic diseases of the teeth, oral cavity and kidney. gum tissue is … publications … suzanne hart, ph.d. … suzanne hart, genetic diseases of the teeth, oral cavity, papillon-lefevre …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… populations, opening new avenues for research on skin diseases and cancer in all populations. … these findings may … 12, 2017, in the journal science . studying human skin pigmentation helps researchers understand how the cells that … two times more uvr than more temperate regions, darker pigmentation in people from these regions is thought to …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… dr. huizing also studies other sialic acid-related diseases , including sialuria, a progressive disease in which … people worldwide, hps is mainly characterized by decreased pigmentation (ocular or cutaneous albinism) and a lack of … projects … marjan huizing, ph.d. … marjan huizing, rare diseases , genetic disorders, metabolic disorders … marjan …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… discovering this connection will help us understand pigmentation diseases with innate immune system involvement like vitiligo … researchers at uab and nih report that loss of hair pigmentation , or gray hair, is associated with innate immune …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.