Name: Amar J. Majmundar, MD, PhD
Institution: Boston Children's Hospital
Grant: Jared J. Grantham Research Fellowship (2018)
Project Title: Whole Exome Sequencing to Identify Novel Monogenic Causes of Nephrolithiasis
How would you sum up your research in one sentence?
Provide a brief overview of the research you will conduct with help from the grant.
Name: Amar J. Majmundar, MD, PhD
Institution: Boston Children's Hospital
Grant: Jared J. Grantham Research Fellowship (2018)
Project Title: Whole Exome Sequencing to Identify Novel Monogenic Causes of Nephrolithiasis
How would you sum up your research in one sentence?
- I study the genetic basis of kidney stone disease in children and adults by whole exome/genome sequencing approaches.
Provide a brief overview of the research you will conduct with help from the grant.
- I will study a novel genetic cause of renal stone disease that impairs urine alkalization—a known stone treatment—in the kidney collecting duct by understanding how mutations cause molecular dysfunction in its gene product, a collecting duct cell receptor. I will secondly apply whole exome sequencing to identify novel causes in other families with kidney stones.
What impact do you hope your research will have on patients?
- My research will provide clear pathophysiologic mechanisms of how renal stones form in children and adults with genetic mutations and which are specific to each family. Providing a molecular diagnosis should ultimately allow for more personalized treatment approaches.
What are your short- and long-term career goals?
- I aim to become an independent physician-scientist with an independent laboratory focused on the genetics of renal stone disease.
What inspired you to focus your research in kidney diseases?
- As a pediatric nephrologist in training, I have been intrigued by normal kidney physiology and by how kidney stones can arise from disruption in these normal functions.
Describe the importance of having grant funding available through the ASN Foundation.
- The ASN Foundation research funding is essential to the future of nephrology research and medicine, as it provides vital support to the careers of trainees and young independent investigators.
Something you may not know about me is…
- I have an insane love of basketball.
In my free time I like to…
- Spend time with my wife and daughter.
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