Deborah Nickerson, Pioneering Genome Researcher, Dies at 67

A researcher who helped discover genes responsible for cardiovascular disease and Miller syndrome, as well as a rare condition that causes malformations of the face and limbs, died in December. She was older.

Her brother said that she had been diagnosed with abdominal cancer less than a week earlier.

The findings of the Human Genome Project were used in her research to make them medically useful. She showed how genetic variation could be used to target genes that cause disorders.

Dr. Gail Jarvik is a professor of medicine and genome science at the University of Washington School of Medicine. Her role was to help us understand what changed in people's genes and what changed in rare diseases.

One of the five clinical sites that comprise the Gregor Consortium is named after a 19th-century Austrian monk known as the Gregor.

Funded by the National Institutes of Health, the consortium seeks to identify the genes that are responsible for certain types of disorders, such as cystic fibrosis.

In 2009, Dr. Nickerson found the gene for Miller syndrome, one of thousands of Mendelian disorders.

Dr. Francis Collins, the former director of the N.I.H. who is now a senior investigator at the National Human Genome Research Institute, called the discovery of the Miller syndrome gene an "explosion moment"

He said in a phone interview that he never imagined that he would be able to determine a person's illness by reading his genome.

Dr. Bamshad said thatDebbie was instrumental in developing the technology so that we could prove it could be done on other conditions. She was passionate about the role of women in science.

The discovery of genetic alterations that are responsible for Kabuki syndrome, a rare congenital disorder that causes children to be born with arched eyebrows, was led by the technology that Dr. Nickerson and her colleagues used. The term derives from the appearance of actors in Kabuki theater.

Deborah Ann was born in New York and grew up in Jamaica, Queens, and West Islip on Long Island. Her parents owned a garden center.

She received her PhD in immunology from the University of Tennessee after graduating from Adelphi University with a bachelor's degree in biology. She was a researcher in the division of infectious diseases at the University of Kentucky.

She said in the video that she loves science. It was the hardest subject in school, and it drives me. You want to understand more.

After teaching biology for nearly a decade at the University of South Florida, Dr. Nickerson joined the biology department at the California Institute of Technology as a senior research scientist. She worked under Dr. Hood, who was the leader of the team that created the Human Genome Project.

She followed Dr. Hood to the University of Washington. She formed the department of genome sciences after it merged with the genetics department.

She created a catalog of human genetic variation from a diverse population using technologies that made it cheaper to sequence the genes. She made it available online to other researchers.

She led a group of researchers who found genetic variations in Warfarin patients, which had been a longstanding clinical problem.

In advising women and underserved minorities in her field, Dr. Nickerson had risen in what had been a male-dominated world, had fought for what she wanted when applying for grants, and had dealt with the leadership of the N.I.

Eric Green said that he was the N.H.G.R.I. director for less than an hour and that she was telling him how to do his job. She was almost always right.

Dr. Jarvik said that Dr. Nickerson encouraged her to ask for more and to aim higher. She said that she understood big opportunities and had entrepreneurial instincts.

She said, "I am not a native risk-taker, and I have tried to ask myself, 'What would Debbie do?'"