Love of children guided career choice – Seema Lalani researches birth defect

Seema Lalani: “I admit it was hard to think of getting pregnant, having seen so many problems by working in genetics. There’s a 2 to 3 percent risk of birth defects in any pregnancy. I totally believe having a healthy child is a miracle.”

 

Love of children guided career choice

Seema Lalani researches birth defect

By KIM HUGHES
Chronicle Correspondent

Every day at work, Dr. Seema Lalani painstakingly searches for one more piece of the puzzle that is CHARGE syndrome, a pattern of birth defects which occurs in approximately one in every 9,000-10,000 births worldwide.

When she’s not immersed in research, Lalani, a 36-year-old Sugar Land resident, visits with the littlest of patients in clinic at Baylor College of Medicine, where she’s assistant professor of Molecular and Human Genetics.

“These are children who have difficulties with seeing, hearing, balancing, eating, swallowing and a whole lot of other functioning that we all take for granted,” Lalani said. “Most of them are intellectually normal children, in my experience, who work against all odds with unparalleled strength and courage. Knowing them has made me a better person and I cherish every part of my research in this field.”

Lalani, who earned her medical degree from the Aga Khan University in Karachi, Pakistan, followed by a pediatrics residency at Hershey Medical Center in Pennsylvania, began her genetics fellowship at Baylor in 2000.

She settled on CHARGE syndrome for her project, and has been working diligently ever since.

In 2004, Dutch researchers had a eureka moment when they discovered a gene for CHARGE syndrome.

Lalani said it’s satisfying as a researcher to be one step closer to getting an answer.

“Now the course of my research is sequence analysis of this gene,” Lalani said. “I have a number of patients enrolled in the study. We automatically test the parent to see if it’s in the parents or just the child. Most of the time we find it’s a new event in the child.”

Lalani said everybody has this gene, but they don’t know what causes the mutation in children born with CHARGE syndrome.

“Sequence analysis is helpful in a number of ways,” Lalani said. “If you find a mutation, you have a cause for the condition. Second, a lot of families are interested in knowing if this could happen again, before having another child.”

Lalani can understand that, and is pleased when she can reassure parents. She herself is a mother of two children: Ayaan is 15-months-old, and Sophia is almost 3-years-old.

“I admit it was hard to think of getting pregnant, having seen so many problems by working in genetics,” said Lalani, who has been married to her husband Murad Pirani for eight years. “There’s a 2 to 3 percent risk of birth defects in any pregnancy. I totally believe having a healthy child is a miracle.”

Lalani’s sister, Austin resident Shaila Abdullah, said there’s nothing surprising about Lalani opting for a career in pediatrics.

“Early on we caught on that Seema has the gift of healing,” said Abdullah, 36. “She has the Midas touch when it comes to cure. She is very intuitive and can sense a problem pretty quickly. She does not panic easily and is very thorough in her ability to get to the root of a matter.”

And Lalani, who considered a career as a pre-school teacher, just plain loves children.

“I love kids, and that’s the reason I went into pediatrics during my residency,” Lalani said. “I picked up genetics because I just wanted to be a better pediatrician who could detect abnormalities in children. I can’t imagine myself doing anything other than seeing pediatric patients and conducting research.”

Nor can Katy resident Brownie Shott, mother to 14-year-old Taylor, who has CHARGE syndrome.

“Her level of dedication to this work is such a blessing,” Shott said. “We don’t have a celebrity attached to it, and it’s just not ‘sexy’ enough of a disorder to get tons of attention. Her dedication and willingness to visit with parents, attend conferences … she goes way above and beyond. We are blessed to have doctors like her, who for whatever reason are interested in our kiddos.”

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