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Deborah Nickerson, a human genomics researcher who helped discover genes responsible for cardiovascular disease, autism, and cardiovascular disease Miller syndromeHe died at his home in Seattle on December 24, a rare condition that causes disfigurement of the face and limbs. He was 67 years old.
His brother, William Nickerson, the only survivor, said the cause was abdominal cancer, which was diagnosed less than a week ago.
Dr. Nickerson used the following findings in his research: Human Genome Projectin 2003, which completed the historical genetic sequence of every human gene and made them medically useful. By sequencing the genes of thousands of healthy people, he revealed how genetic variation can be used to target specific genes that cause inherited disorders.
“The impact on genomic medicine is profound,” said Dr. gail jarvikA professor of medicine and genomics at the Washington University School of Medicine, Dr. “His role was to really help us understand what changes in DNA mean among humans and identify which gene is changed in rare diseases.”
Dr. Nickerson was also a professor of genomics at the University of Washington and the founder and director of one of five clinical sites. Gregor ConsortiumThe successor to the Mendelian Centers for Genomics, named after Gregor Mendel, a 19th-century Austrian monk known as the father of genetics.
Funded by the National Institutes of Health, the consortium is trying to identify gene mutations responsible for what’s known as Mendelian disorders, where patients have a mutation in a gene, such as for cystic fibrosis or sickle cell anemia.
Dr. Michael Bamshad and jay shendure, Dr. Nickerson found the gene for Miller syndrome, one of nearly 7,000 Mendelian diseases, in 2009.
Francis CollinsFormer director of the NIH and now a senior researcher. National Human Genome Research InstitutePart of the NIH has called the discovery of the Miller syndrome gene an “explosive moment” and an example of “jaw-dropping” genome sequencing, the technique used to read all or part of a person’s genome, an organism’s full set of DNA.
“I never dreamed in my career or in my life that we could do this,” he said in a phone interview, referring to his ability to identify a person’s disease by reading their genome.
Dr. Bamshad also said over the phone: “Debbie has been instrumental in developing the technology so we can prove it can be done in other circumstances. She was a wonderful, hard-nosed scientist who was passionate about the role of interns and women in science.”
Dr. The technology used by Miller and colleagues led to the discovery a year later of the genetic changes responsible for: Kabuki syndromea rare congenital defect that causes children to be born with long eyes and curved eyebrows (The term derives from the appearance of actors in Kabuki theater who wear exaggerated makeup.)
Deborah Ann Nickerson was born on Long Island in Mineola, NY, and grew up on Long Island in Jamaica, Queens, and West Islip. His parents, William and Josephine (Veccia) Nickerson, owned a garden center.
He graduated from Adelphi University with a BA in biology in 1974 and earned his PhD in immunology from the University of Tennessee. He was a postdoctoral fellow in the infectious diseases division at the University of Kentucky medical school from 1978-79.
“I love science,” he said in a video on the university homepage. “It was probably my hardest subject in school and that’s why it turns me on. You want to be better and understand more.”
Beginning in 1979, Dr. Nickerson spent nearly a decade teaching biology at the University of South Florida before joining the biology department at the California Institute of Technology, first as a visiting associate and then as a senior research scientist. There Dr. Leroy HoodHe led the team that invented the DNA sequencer that made the Human Genome Project possible.
Dr. He followed Hood to Washington University’s newly created molecular biotechnology department in 1992. merged He remained in 2001 to form the genome sciences department along with the university’s genetics department.
Dr. Nickerson was an early adapter of technologies that made DNA sequencing cheaper; Using them, he sequenced the genes of more than 6,500 volunteers to create a catalog of human genetic variation from a diverse population. He later made it available online for other researchers who developed it further.
He also led a group of researchers in 2017. reported finding genetic variants Among the different responses of patients to the blood thinner Warfarin, which has long been a clinical problem.
Dr. Nickerson’s creative, unfiltered, tenacious style has greatly helped her to advise women and underserved minorities in her field, having risen in a once male-dominated world; fighting for what he wants when applying for a grant; and while dealing with the leadership of the NIH and the National Human Genome Research Institute.
“I was NHGRI director for less than an hour and he was telling me how to do my job,” he said. Eric Green, Person appointed to this post in 2009.
Dr. Jarvik, Dr. He remembered how Nickerson had advised him to seek grant money, encouraging him to want more and aim higher. “He had entrepreneurial instincts,” he said, “and he understood great opportunities.”
“I’m not a domestic risk taker and I’m like, ‘What would Debbie do?’ I tried to ask,” he added.
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