Nancy Wexler facts for kids

Quick facts for kids Nancy Wexler
Wexler in March 2015
Born	(1945-07-19) July 19, 1945 (age 80)
Nationality	American
Alma mater	Radcliffe College University of Michigan
Known for	Contributing to identification of the gene that causes Huntington's disease
Awards	Benjamin Franklin Medal in Life Science (2007)
Scientific career
Fields	Genetics
Institutions	Columbia University

Nancy Wexler (born 19 July 1945) is a famous American geneticist. She is a professor at Columbia University and is best known for helping to find the gene that causes Huntington's disease. This is a serious illness that runs in families. Even though she studied clinical psychology, she chose to work in the field of genetics.

Nancy Wexler's mother had Huntington's disease. Because of this, Nancy led a research team to a remote part of Venezuela. Many people in these villages had the disease. Her team collected samples of DNA (deoxyribonucleic acid). These samples were very important. They helped a global team of scientists find the exact gene that causes Huntington's disease. Wexler also helped create a test to find out if someone carries the gene for the disease.

Early Life and Education

Nancy Wexler was born on July 19, 1945, in Washington, D.C. She grew up in California and Kansas. Her father, Dr. Milton Wexler, was a psychologist. Her mother was a geneticist who taught biology. Both parents taught Nancy and her sister about science.

Nancy's mother, Leonore, learned about Huntington's disease (HD) when she was young. Her three brothers all had HD and passed away from it. For many years, the family kept the diagnosis a secret. They would say her uncles were "nervous" instead of ill. When Leonore started showing symptoms, Nancy's father eventually told her the truth. Nancy said her mother seemed to have known all along.

From a young age, Nancy Wexler wanted to learn everything about Huntington's disease. She attended many workshops. One film showed patients living in a community in Venezuela. This inspired her to get involved in research there years later.

Nancy studied psychology at Radcliffe College from 1963 to 1967. She then earned her PhD in clinical psychology from the University of Michigan in 1974. She only took one formal biology course in college. In 1968, her father started the Hereditary Disease Foundation. This foundation connected her with many scientists. These scientists became her teachers in genetics. Nancy is now the President of this foundation. The group raises money for research on HD and other inherited diseases.

Her older sister, Alice Wexler, is a historian. She also helped with Huntington's research. Alice wrote a book called Mapping Fate, which tells the story of how their family dealt with their mother's illness. It also describes their efforts to advance HD research.

Career and Research Work

In 1976, the U.S. Congress formed a special group to study Huntington's disease. As part of this work, Nancy Wexler and her team traveled to Venezuela. They visited villages like Barranquitas and Lagunetas near Lake Maracaibo. Many people there had Huntington's disease.

Starting in 1979, her team worked for twenty years. They collected over 4,000 blood samples. They also documented 18,000 different people to create a large family tree. This helped them understand how the disease was passed down. They discovered that the gene was on chromosome 4. This discovery led to a test for the disease.

For her important work, Nancy Wexler has received many awards. These include the Mary Woodard Lasker Award for Public Service and the Benjamin Franklin Medal in Life Science (2007).

Nancy's mother's symptoms got worse over time. She had constant, uncontrollable movements. She also lost a lot of weight. She needed to eat at least 5,000 calories a day because of her unique metabolism. She passed away in 1978.

Nancy Wexler continued her research on HD. She credits her drive to her father, Milton Wexler. He and her sister Alice worked closely with her for many years. Later, her father felt science had become too complex for him. He turned his work over to Nancy and her colleagues.

Wexler has held many important public roles. She chaired groups like the Ethical, Legal and Social Issues Working Group of the National Human Genome Research Institute. She also chaired HUGO, the Human Genome Organization.

Finding the Huntington's Disease Gene

Nancy Wexler faced many challenges when she took over her father's work. Her main goal was to continue the research. Scientists studied the DNA of Huntington's disease patients for years.

In 1979, Nancy Wexler learned about using "polymorphisms" as markers. These are small differences in DNA that can help locate genes. She hosted a workshop where experts explained their ideas for finding genes. This gave her the idea to use this method.

From her idea, scientist James F. Gusella focused on finding HD markers. He quickly found a marker that could show if a person had HD. Wexler gave Gusella blood samples she collected from people in Venezuela. These samples helped confirm his discovery.

Huntington's disease is one of several "trinucleotide repeat disorders." These are caused by a section of a gene being repeated too many times. The HTT gene is on chromosome 4. It contains a sequence of three DNA bases—cytosine-adenine-guanine (CAG)—repeated many times. This repeated section leads to the disease.

Testing for Huntington's Disease

Since 1986, tests have been available to find out if someone will get HD before symptoms appear (presymptomatic testing). Tests are also available during pregnancy (prenatal testing). Nancy Wexler helped lead a program that offered these tests. She also worked as a counselor, talking to over 100 people about testing.

Wexler believes that detailed counseling is very important for both types of testing. Because there was no cure for the disease, it was hard to find people for studies. Patients sometimes became depressed. They struggled with the 50-90% chance of inheriting the disease.

Before the gene was fully identified, early tests used markers close to the gene. This could tell if someone was very likely to get the disease or not. Sometimes, the test could not give a clear answer.

Nancy Wexler and her sister Alice decided they did not want to know their own test results. Wexler knew the disease usually appeared in middle age. But it could sometimes be found in children as young as two. The disease affects muscles, including those used for swallowing.

Wexler often took her research personally because of her family's connection to the disease. She sometimes worried that things happening to her were symptoms of HD. She wondered if she would be happier knowing if she wouldn't get the disease. She also thought about her decision not to have children. She said she never expected a test to be available in her lifetime.

There are two types of prenatal tests. The most common is "exclusion testing." This test tells if a fetus inherited a specific part of chromosome 4 from a parent. This is helpful if parents don't know their own genetic status. It's also useful if parents prefer not to know their own genes. If the fetus has the chromosome from the affected parent, there is a 50% chance of developing the disease. The test is about 96% accurate.

Personal Views on Genetic Counseling

Wexler believes that people seeking presymptomatic testing benefit greatly from counseling. Sometimes, the counseling itself is more helpful than the test result. Her views come from her own experience and from talking with other experts. Being at risk for HD deeply affects people's lives. They may have had a parent or other relatives with the disease. Most people welcome the chance to talk with someone who understands what they are going through.

Tetrabenazine Medication

On December 6, 2007, a company presented information about a drug called tetrabenazine to the United States Food and Drug Administration (FDA). Tetrabenazine helps treat "chorea." Chorea is a symptom of Huntington's disease that causes uncontrolled movements.

Nancy Wexler wrote a letter to her Hereditary Disease Foundation about this drug. She spoke to the FDA committee about her personal experience with HD. She explained why she believed tetrabenazine could help people with the disease. Before this, there were no approved treatments in the U.S. for chorea related to HD. She urged patients to support the drug's approval. With Nancy Wexler's help, tetrabenazine was approved by the FDA.

See also

In Spanish: Nancy Wexler para niños