By Scott Brinton
Marando, 16, of Bellmore, was probing the root causes of cystic fibrosis, a disease that ravages the lungs of newborn babies and afflicts them as they age, causing them to live in near-constant pain and die early, usually in their 30s, with virtually no lung capacity. Marando's work, conducted at Stony Brook University Medical Center, may one day help lead researchers to a cure for an illness that now plagues some 30,000 Americans.
For her efforts, Marando was recently honored as a Siemens-Westinghouse Science and Technology Competition semifinalist. She is one of two Bellmore-Merrick Central School District seniors to earn Siemens-Westinghouse accolades this year. The other is Cameron Breen, 17.
(See "Kennedy senior honored for research" in last week's issue.)
Marando said that scientists have traditionally focused research in cystic fibrosis on defective, or mutated, CFTR genes. When there isn't enough of the gene, she explained, it causes two other genes to misfire. Marando examined those other genes. The defective TLR4 gene causes inflammation and scarring on lung tissue, and the misdirected DUOX1 gene leaves the body with little or no ability to kill certain bacteria in the lungs, leading to continuous infections.
According to the American Lung Association, cystic fibrosis also causes the lungs to produce excessive amounts of mucous, which makes breathing laborious. Mucous often builds up in the pancreas as well, preventing normal digestion, which leads to malnutrition.
To pass along cystic fibrosis, both parents must carry the mutated CFTR gene; in that case there is a 25 percent chance that a child will be born with the disease. More than 10 million Americans are unknowing carriers of the defective gene. Prenatal screening to determine whether a child will be born with cystic fibrosis is available, and treatment of the disease is improving, but there is no cure.
Marando said that researchers "don't fully understand this disease. You have to learn everything before you can cure it."
She has spent the past two summers at Stony Brook. In preparation for her research, she combed through medical journals for hours, learning the language of cystic fibrosis. When she came across a medical term in a journal that she did not know, that would lead her to another journal for an explanation, which inevitably sent her to yet another journal.
At Stony Brook, she said, "I was in an environment where I knew nothing. It sounded like a foreign language to me. It was a huge process. I read an insane amount of articles."
Dr. David Kommor, a part-time chiropractor who teaches biology and science research at Mepham full time, has been Marando's research mentor for the past three years. He said the paper that she submitted to the Siemens-Westinghouse contest was graduate-level in quality -- and among the top papers he has seen in his eight years as a research adviser. "When I read it," Kommor said, "I fell to the floor. I was so impressed with the paper."
Marando, who is ranked fifth in her class at Mepham, was invited to return to Stony Brook next summer. "I'm definitely interested in helping them more and seeing where [the research] is going to go," she said.
She is president of Mepham's Italian Honor Society and recently hosted Italian Night at the school. She is also a member of the math, science, English and national honor societies.
Marando is a long-time Girl Scout who recently received her Gold Award, Girl Scouts' highest honor. For her community service project, she organized a Science Day for fourth- to sixth-grade girls at SUNY-Old Westbury. For the project, she enlisted the help of 20 Advanced Placement science students from Mepham, as well as 15 teachers.
Marando is an athlete as well, competing on Mepham's girls' varsity tennis team. This season she was one-half of an undefeated doubles pair that helped propel the team to a conference championship. (See story, page 12.)
Marando's mother, Eileen, is a computer engineer. Her father, Louis, owns Luigi's Pizzeria in Bellmore, only blocks from Mepham. Louis Marando said of his daughter's Siemens-Westinghouse win, "Her whole summer was involved with this. She was really excited. I was just so proud. She is just a wonderful young woman."
Comments about this story? SBrinton@liherald.com or (516) 569-4000 ext. 203.