Dr. Shah Spent Years Studying Genomes, Heart Disease, and Genetic Epidemiology Before Having Two Sons with Factor VII Deficiency

 

“When women come together to demand change, change happens.”

These are Dr. Svati Shah’s words at the Miss America 2020 pageant. She encouraged the watching audience that although cardiovascular disease and strokes take the lives of women more than every cancer combined, the answer, Dr. Shah believes, is in more than the usual advice of eating better and exercising more. The change comes from encouraging more women to pursue science and medical careers and making sure women are heavily involved in medical research.

Dr. Shah is living proof that women can have it all as a mother, researcher, doctor, and associate dean at Duke University’s School of Medicine. She is also an active volunteer for the American Heart Association. Dr Svati has spent all of her adult life studying preventable diseases and specifically genetic epidemiology. Dr. Shah is also the mother to two little boys with a rare disease diagnosis. But before that, she was a young high school senior applying for college.

Svati Shah barely made the application deadline to attend John Hopkins University. Afterwards, she went to Medical School and worked so hard that she was able to get into her top medical residency at Harvard. Dr. Shah was interested in preventable diseases because her own parents, who came to the US from India with $8 in their pocket, had family members who had died of preventable diseases. For example, her mother had five siblings who died of conditions that could have been cured with antibiotics. Svati even had uncles, aunts, and grandparents who suffered from simple diseases such as fever, cataracts that caused blindness, or diseases that could have been treated with antibiotics.

While at Harvard, Dr. Shah decided to focus on cardiology because it allowed her to interact with patients, do procedures in the lab, and also complete research. She decided to focus on genetic epidemiology with the help of a cardiologist mentor at the University.

Genetic epidemiology focuses on how a person could be genetically predisposed to diseases. Dr. Shah also joined the Center for Human Genetics at Duke University where she did her fellowship. She spent time participating in studies to determine what genes cause early onset of heart disease, examining 1,000 families.

During this time, Dr. Shah met her husband Patrick Hranitzky, who was another cardiologist at Duke University. They had two sons together.

When their oldest son was five years old, he had a serious gastrointestinal bleed and was put in the hospital for it. It took months but doctors eventually discovered the cause: a rare disease called factor VII deficiency. This rare disease causes lack of a protein that is needed for blood to clot. Her younger son Kellan was screened and has the disease as well.

About 1 in 40 people have rare diseases and one way to fight them is the very thing Dr. Shah has spent years studying: genomics. In fact, Dr. Shah was recently named as the director of Duke University’s Precision Genomics Collaboratory.

Read source article here.

 


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