Dr. Ashima Gulati is one of the four outstanding researchers selected for our 2017 PKD Foundation Fellowship Awards. She earned her medical degree from New Delhi, India and training in pediatrics and nephrology at University of Connecticut and Yale School of Medicine. Her research is part of the Investigative Medicine Program at the Yale Graduate School of Arts and Sciences.
I would like to thank the PKD Foundation for the support.
I came to Yale for fellowship training in pediatric nephrology. My prior research focused on clinical trials for children with kidney disease and made me inquisitive about the role the human genome plays in determining treatment response among individuals with a similar clinical condition. I have since aspired to translate genetic understandings to patient care. For example, we often bring cases from the clinic to find interesting genetic answers which may translate into better understanding of the disease condition.
My enrollment with the Investigative Medicine Program at the Yale Graduate School of Arts and Sciences that allows physicians to work towards a PhD provided me with this wonderful opportunity to work on an ADPKD genetics project in the lab of my mentor, Dr. Stefan Somlo, in collaboration with Dr. Terry Watnick at the Univ. of Maryland. We are looking at genetic determinants predisposing to brain aneurysm formation in ADPKD.
ADPKD patients are at higher risk for formation of brain aneurysms which are focal dilatations of blood vessels. Rupture of brain aneurysm is the single most important cause of death and neurological disability in PKD patients with well-preserved renal function, so the clinical impact is significant!
It is interesting to note that these aneurysms tend to cluster in families, suggesting that there is a genetic basis for aneurysm risk in ADPKD.
We subject DNA from patients with ADPKD and brain aneurysm to whole exome sequencing, a process that involves sequencing the entire protein coding region of the genome to identify gene variants associated with aneurysm risk in ADPKD.
We are actively recruiting participants with ADPKD and brain aneurysm and can be contacted at Obrien.firstname.lastname@example.org. When I speak with study participants for consent and enrollment processes, it is amazing to see how our patients are so enthusiastic about their contribution towards this research. Obviously, none of this work would be possible without their support.
The genetics of brain aneurysm formation is complex. However, the availability of patients through collaborative efforts and the resources available to us with the Yale Center for Mendelian Genomics together create the most conducive environment possible to carry on this work.
We hope that knowledge of gene variants will improve our understanding of aneurysm pathophysiology in ADPKD.
As genomic advancements allow the field to focus on individual variability for disease susceptibility and outcomes, the benefits of integrating genetic research with clinical medicine will become more apparent. The only promise we want to hold on to is to continue advancing PKD research in this era of precision medicine!
Our Fellowships and the work of outstanding PKD researchers wouldn’t be possible without the support of the PKD community. To help fund critical research that will bring treatments to patients faster, please consider becoming a monthly giver to the PKD Foundation today.