Our People
Director of Translational Immunology
“What drew me to Jnana was that which I imagine every scientist looks for: to join a diverse, ambitious, and brilliant group of scientists working organically to understand and manipulate biology in novel ways. The colleagues and the quality of the science here is top notch and I am excited every day to see what we can accomplish together—I believe what we are doing will lead to substantial advancements for patients in a variety of diseases.”
Scientist II
Being surrounded by people who are approaching complex problems in innovative ways motivates me to tackle challenging tasks. Jnana provides an open and accepting environment for creative solutions to thrive!”
Research Associate I
The company culture at Jnana is incredibly welcoming, both in and out of the lab. You can tell how passionate everyone is about what they’re doing, which is the kind of atmosphere that sets you up to succeed and makes you excited to continually learn and explore!
Associate Director, Biology
“The excitement of carrying out innovative and rigorous science that may positively impact the lives of patients with unmet medical need, and doing so as part of a talented and passionate team is what motivates me when tackling the substantial challenges of drug discovery.”
VP, Finance & Operations
“The people and the science motivate me to come to work every day. We are a collection of bright and dedicated team players working on innovative approaches to tackling un-met medical needs. It’s a privilege to be part of this organization.”
Scientist II
“It is a joy to work with the talented, motivated team here at Jnana. The collaborative environment inspires me to take on challenging problems, knowing that the whole team is behind me.”
Associate Scientist
“From day one I could feel a very real sense of urgency at Jnana – urgency to understand the complex science behind SLCs and bring needed therapies to patients. I feel proud to be a part of such a driven team.”
Director, Alliance Management and Business Development
“The most meaningful part of my work is being part of a passionate and courageous team that is blazing new trails in drug discovery. Jnana is poised to make history and impact patient lives by expanding and opening SLC transporters as a therapeutic target class.”
Scientist II
“Jnana for me is a group of exceptionally talented people working to provide new therapies for patients in need. The collaborative environment and drive to innovate both inspires and motivates me.”
Principal Scientist
“I strongly value our commitment to expanding the boundaries of drug discovery by opening SLC transporters as a therapeutic target class to discover critically needed therapies for patients. I’m proud to be part of a team that clearly enjoys working together to reach this goal.”
Senior Scientist I
“At Jnana, I’m excited to work with highly motivated people having diverse areas of expertise. Everyone is deeply committed to developing new treatments that will improve patients’ lives.”
Office Assistant
“The office is very welcoming, calm and focused. Everyone is always happy to have a conversation or help out. The amazing work environment and the friendly people I work with motivate me to do my best.”
Intern
“Jnana promotes a culture of tackling problems from many different perspectives – promoting collaboration between computational scientists, biologists, and chemists alike. This refreshing mindset manifests in every step of drug discovery, from ideation to clinical testing to implementation, with the end goal of better patient outcomes.”
Senior Scientist I
“Jnana to me is rigorous, cutting edge science, wise leadership, and a group of very talented, passionate and collaborative colleagues that work with a laser sharp focus to open up the untapped potential of SLCs. The opportunity to build on this great foundation is what motivates me every day.”
Research Associate II
“The collaborative environment that Jnana fosters is the key to the company’s successes. The positive, energetic energy that each employee at Jnana brings speaks to how passionate they are about their work and making contributions towards advancing the science that can one day help patients.”
Associate Director
“Everyone here is extremely collaborative. They’ve inspired me to go beyond my limits when undertaking new challenges, so we can provide patients with newer, safer treatment options.”
Senior Scientist II
“Coming from a physics background, I’ve always been fascinated by the way things work. I feel that my purpose at Jnana is to help expand the knowledge of SLC transporters to help those in need.”
Office & HR Administrator
“Jnana has an amazing group of people who are passionate about what they do. Everyone is driven to accomplish a single goal with a ‘go-getter’ attitude.”
Associate Scientist
“The culture here is so uniquely collaborative, passionate and inspiring. Everyone is dedicated to find treatments to help patients.”
Research Associate II
“Jnana gives me the opportunity to do what I love and know that my contribution to our team has generated results that ultimately make an impact in patients lives!”
Chief Scientific Officer
“Jnana provides the opportunity to work for patients on such a rich class of druggable targets, which is both exciting and humbling.”
Associate Director, Biology
“We wash dishes together — there’s no such thing as managers and subordinates, we have teams with co-leaders. Everyone is pulling their own weight.”
Chief Business Officer
“Jnana’s foundation is a truly collaborative culture and rigorous, cutting-edge science. I am motivated by the opportunity to build on this foundation to help drive Jnana’s growth and advance impactful new medicines internally and through partnerships.”
Director, Proteomics and Chemical Biology
“I’m inspired by this challenging journey to build novel platforms for patients and their families who are in desperate need of treatments to improve their quality of life.”
VP, Head of Chemistry
“I am inspired to be part of a team of so many talented, passionate and motivated scientists. It is an incredible motivation to know that our work will directly improve the lives of patients who currently have significant unmet health needs.”
Senior Scientist I
“What I love about Jnana is that it has a unique environment where people from different scientific and business backgrounds come together to solve complex, biological questions to make a difference in the lives of patients.”
Principal Scientist
“I feel that many of us here have something in common — we’re not afraid of stepping out from our comfort zone to do something new, different, unproven or unfamiliar and we all enjoy every bit of that journey.”
Senior Scientist I
“I am excited to work with this group of dedicated, passionate and creative people to tackle diseases with few or no therapeutic options. It’s this desire to help patients and their families that motivates us to work hard every day.”
VP, Head of Preclinical Development
“Everyone is passionate about developing therapies in disease areas with tremendous unmet need. To be able to do what you love with such a high energy, devoted group of talented scientists? There’s nothing better!”
Scientist I
“Jnana is filled with a tight knit group of the most innovative and inspiring group of scientists who are all driving towards the same goal of delivering novel therapies to patients in need.”
Associate Director, Chemistry
“We all have had family and friends afflicted by disease, and seeing firsthand the shortcomings of even the most current therapeutic options reassures what we’re doing here is necessary and will be valued by patients who struggle to find relief.”
Scientist I
“I love coming to work every day because I am inspired by the people I work with and the science. I’m motivated to help develop medicine that will one day improve the lives of patients.”
Senior Scientist I
“Jnana is filled with enthusiastic, driven individuals who strongly value each other. This is a place where you can comfortably take risks and grow.”
President and CEO
“I am inspired each day by the Jnana team, who each bring tremendous energy to our shared mission of developing new medicines for patients.”
Senior Research Associate
“Working in this environment has urged me to look outside the scope of what I previously knew, evolving my understanding of the complex mechanisms through which cells interact with their microenvironment, ultimately developing novel tools for modulating these processes.”
Senior Research Associate
“It takes a village to solve the complexities of human disease, and Jnana embraces that concept. Every day I get to watch people from different backgrounds bring their unique experience to the table to solve common goals. I love being a part of that.”
Senior Scientist I
“The Jnana culture is centered around utilizing everyone’s skill as best as possible to provide drugs to patients who need them urgently.”
Senior Scientist I
“To me, the most meaningful part of my work at Jnana is knowing that the science I contribute to each day brings us one step closer to helping patients in need.”
Senior Research Associate
“Every day I am motivated at Jnana to play my part in all of the exciting research going on here. It is the type of environment where everyone is so involved in all the different projects, because we all want to succeed together.”
Scientist I
“I like working at Jnana because it is with a team of people who I trust to deliver the highest quality data to move our programs forward”
Senior Scientist I
“Jnana is driven by excellence and compassion. We develop new therapies and unleash the potential of SLCs as therapeutic targets. Together, we foray into uncharted territories, and I found here a sense of fellowship and a mission. It’s a Journey and a humbling experience for me.”
Senior Research Associate
“Jnana has provided me with an opportunity to make contributions towards important research and has surrounded me with a group of talented, team-oriented individuals”
Executive Assistant and Manager, Corporate Operations
“Jnana is a team of uniquely skilled individuals who work collaboratively to solve complicated problems. Everyone is driven by our mission and is humble and passionate.”
Research Associate I
“I go to work every day knowing that what I do will someday help improve peoples’ lives. Whenever I’m scientifically challenged, remembering that alone is enough to help me persevere.”
Senior Research Associate
“I’ve never felt more welcome and supported in my growth as a scientist as I have upon joining Jnana. The team and culture are amazing and the science is intricately inspiring. It’s even more exciting to explore the limits of the principle that immune cells are what they ‘eat’ and that restricting their diet could help alleviate human suffering especially in the context of autoimmune diseases.”
Research Associate I
“I have the special opportunity at Jnana to work with a group of talented and driven individuals, who have the utmost passion for our science and compassion for patients seeking treatment.”
Lab Manager
“I feel incredibly fortunate to be part of the Jnana family, a uniquely talented, fun, compassionate, and driven group of individuals working together to improve the quality of life of people. I look forward to doing my part every single day.”
Research Associate II
“Jnana’s highly collaborative and passionate team embraces the complexities of drug discovery and motivates me to make contributions to exciting research. Our scientific expertise and courage to take risks allows us to make strides in developing treatments that will ultimately benefit patients.”
Jnana’s team is marked by a shared purpose to expand the boundaries of drug discovery to make a positive impact on patients’ lives. Jnana is a Sanskrit word meaning knowledge gained through experience, a concept critical for achieving this ambition. Our rigorous approach to drug discovery is enabled by our collective experience, and continuous learning is a foundation of our culture.
MEET OUR TEAM
We are building a company where all employees are empowered to contribute and where we work together collaboratively to develop breakthrough therapeutics.
Leadership
Joanne Kotz, Ph.D.
Cofounder, President and CEO
Joanne’s life sciences experience spans research, business and operations. She helped formulate the initial scientific strategy for Jnana and has led the business and operations of the company since its launch in 2017. Prior to Jnana, she had a leadership role at FBRI, F Prime Capital’s initiative to enable therapeutic breakthroughs in Alzheimer’s disease and related brain disorders by funding innovative academic research and launching companies. Before F-Prime, Joanne was a director at the Broad Institute, where her research and business responsibilities included defining strategy and leading efforts in early stage drug discovery through collaborations with patients, disease foundations and biopharma. Joanne received her Ph.D. in chemistry from the University of California, Berkeley, and a BS in chemistry and BA in sociology from the University of Florida. She conducted postdoctoral research at the Necker Children’s Hospital in Paris and at Genentech. Following Genentech, she was at Nature Publishing Group, including as founding editor of the journal Nature Chemical Biology.
Joel Barrish, Ph.D.
Cofounder and Chief Scientific Officer
Joel came to Jnana from Achillion Pharmaceuticals, where he served as their chief scientific officer. Most of Joel’s career was spent as a medicinal chemist in pharma, where he capped a 28-year career at Bristol-Myers Squibb by spending the last five years as vice president and head of discovery chemistry, working across all therapeutic areas. In that role, Joel worked with teams responsible for advancing more than 40 compounds into clinical development, including Sprycel (dasatinib), which he co-invented. While at BMS, Joel and his colleagues made notable advances in the area of kinase inhibitor drug discovery, particularly in immunology and oncology. He is a co-author on over 130 peer reviewed publications and is a co-inventor on 40 issued U.S. patents. Prior to moving to BMS, he spent five years at Hoffmann La-Roche as a research scientist. Joel received his doctorate in organic chemistry from Columbia University and his bachelor’s in chemistry from the University of Pennsylvania.
Caroline Stark Beer, MBA
Chief Business Officer
Caroline came to Jnana from Alnylam Pharmaceuticals, where she spent eleven years in roles of increasing responsibility, and ultimately was Vice President and Head of Business Development. In that role, Caroline led the team responsible for the full range of business development activities including opportunity identification, diligence and transaction negotiations. These efforts resulted in the formation of multiple significant partnerships and licensing deals. Prior to Alnylam, Caroline was in business development at Amicus Therapeutics and started her career at Bain & Company. Caroline received her MBA from the MIT Sloan School of Management and bachelor’s in economics from Duke University.
Dean Brown, Ph.D.
VP, Head of Chemistry
Dean has over 20 years of drug discovery experience at AstraZeneca (AZ) where he held the position most recently of Director of Chemistry. Dean has been responsible for building many new drug discovery programs in both neuroscience and infection, several which have resulted in successful transition to clinical trials. Dean is a globally recognized leader in medicinal chemistry, lead generation, library design, DNA-encoded library screening, and applications of computational chemistry. He has also been responsible for leading multiple industrial-academic collaborations which resulted in successful external grants in neurodegenerative disease research. Dean is listed as an author or co-author on more than 60 publications and patent applications in medicinal chemistry and drug design, including granted patents on clinical candidates. He obtained a B.S in chemistry at Abilene Christian University and a Ph.D. at the University of Minnesota in synthetic organic chemistry.
Heather Blanchette, Ph.D.
VP, Head of Preclinical Development
Heather brings over 18 years of drug discovery experience to Jnana working in pharma and biotech on pre-clinical and clinical development programs. Prior to Jnana, Heather served as director of Drug Metabolism and Pharmacokinetics at Nimbus Therapeutics focusing on immunology, oncology and metabolic disease. She was a member of the clinical group working on Nimbus’ allosteric ACC inhibitor for NASH, as well as the preclinical team advancing their TYK2 allosteric inhibitor and STING discovery programs. Prior to Nimbus, Heather led the DMPK group at Cubist Pharmaceuticals, a position in which she served from 2010 until the company’s acquisition by Merck in 2015. In her time at Cubist, Heather’s work focused on acute care therapies for pain and antibiotics developed for the treatment of gram-negative and gram-positive bacteria, including the clinical development of programs including Cubicin, and Zerbaxa and more. Heather received her bachelor’s in chemistry from the University of New Hampshire and doctorate in synthetic organic chemistry from the University of Oregon prior to joining the pharmaceutical industry.
Brian Danieli
VP, Head of Finance & Operations
Brian is an expert finance leader with more than 20 years of global experience with fast-growing biotechnology companies. He joins Jnana from Momenta Pharmaceuticals where he led Financial Planning & Analysis. Previously, he served for more than 20 years in roles of increasing responsibility at Sanofi Genzyme. His most recent position at Sanofi Genzyme was Head of Finance for North America Rare Disease and Rare Blood Disorders, and he drove all aspects of strategic financial planning and operations for the North American region for two business units representing $2B in combined sales with over 500 employees and 12 products. In his roles at Sanofi Genzyme, Brian spearheaded the integration of the Bioverativ and Ablynx acquisitions, implemented financial modeling, and assembled franchise performance metrics for investor audiences. Earlier in his career, he held financial positions at Blue Cross Blue Shield of Massachusetts and KPMG. He earned a BS in accounting from Boston College.
Nick Pullen, Ph.D.
SVP, Head of Biology
Nick is an experienced drug discovery and development leader with 20 years of experience and a proven track-record of therapeutic innovation across multiple disease areas. Before joining Jnana, he was Vice President, Integrative Sciences, Inflammation & Immunology, Cardiovascular & Fibrosis, at Bristol-Meyers Squibb and prior to this, he served as Executive Director, Inflammation & Immunology for Celgene. In both of these roles, Nick was responsible for scientific and strategic leadership of drug discovery programs applying novel technologies and scientific insights to the expansion of the Inflammation & Immunology portfolio as well as more broadly. Dr. Pullen brings extensive experience in Inflammation & Fibrosis, following a career at Pfizer which spanned more than 15 years and brought multiple development candidates to clinical evaluation and touched many disease areas including renal disease, IBD, and NASH. He received his Ph.D. in biochemistry from the University of Southampton in the UK.
Scientific Founders
Stuart Schreiber, Ph.D.
Founder
Stuart is a Morris Loeb professor in the Department of Chemistry and Chemical Biology at Harvard University, Howard Hughes Medical Institute investigator and an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences. He has been a founding core member of the Broad Institute since 2003. Stuart is a world leader in chemical biology, using small molecules as probes in uncovering biological functions. He has provided some of the most significant small-molecule-based advances, including small-molecule probes of extremely difficult targets and processes (e.g., transcription factors, oncogenes, protein/protein interactions, transdifferentiation of cells) that are at the root of human disease. He received his bachelor’s degree in chemistry from the University of Virginia and his doctorate in organic chemistry from Harvard University.
Ramnik Xavier, M.D., Ph.D.
Founder
Ramnik is a core institute member of the Broad Institute of MIT and Harvard and a co-director of the Broad’s Infectious Disease and Microbiome Program. Ramnik is also the Kurt Isselbacher professor of medicine at Harvard Medical School, director of the Center for Computational and Integrative Biology, a member of the Department of Molecular Biology at Massachusetts General Hospital (MGH) and co-director of the Center for Microbiome Informatics and Therapeutics at MIT. As a clinical gastroenterologist and molecular biologist, Ramnik studies the specific molecular mechanisms involved in innate and adaptive immunity as well as the genetic variants associated with Crohn’s disease, ulcerative colitis and autoimmunity. By determining the physiological functions of inflammatory bowel disease-associated polymorphisms, his work illuminates processes underlying mucosal homeostasis and inflammation. Ramnik has spent his academic career at MGH serving as chief of gastroenterology and director of the Center for the Study of Inflammatory Bowel Disease at MGH.
Board of Directors
Brian Cali, Ph.D.
Director
Brian Cali is senior vice president, R&D strategy and external innovation of Ironwood Pharmaceuticals. Brian Cali co-founded Ironwood in 1998, with the goal of helping to translate scientific insights into medicines that make a difference for patients. As senior vice president, R&D strategy and external innovation, Brian is focused on ensuring tight integration between Ironwood’s R&D strategy and its overall corporate and commercial strategies, and guiding the search for product candidates, technologies and scientific innovations that can advance the company’s mission. He previously served as senior vice president of preclinical research and development, during which time his team identified and advanced a number of new pipeline candidates targeting gastrointestinal disorders and vascular and fibrotic diseases. Prior to this, Brian created and led the program management function at Ironwood. Before Ironwood, Brian was a Chiron Fellow of the Life Sciences Research Foundation at Whitehead Institute for Biomedical Research. He holds a doctorate in cellular and molecular biology from the University of Wisconsin–Madison and earned a bachelor of science in microbiology from Cornell University.
Margarita Chavez, J.D.
Board Observer
AbbVie Ventures Margarita contributes more than 20 years of deal-making experience, including 10 years in biotech and pharma. Margarita has led and managed investments in over a dozen biotech companies in the US and Europe. Prior to AbbVie, Margarita was a Director with Abbott’s Global Pharmaceutical Licensing & Acquisitions group and held positions with increasing responsibility. Before joining Abbott, Margarita practiced as a corporate and securities lawyer in Silicon Valley with the firm of Brobeck Phleger & Harrison, advising in equity financings, M&A and IPOs. Margarita currently serves on the Board of Magnolia Neurosciences and Carisma Therapeutics. Margarita received her law degree from Santa Clara University School of Law and her bachelor’s from Santa Clara University.
Annie C. Chen, M.D., M.P.H.
Director
Kevin Kinsella
Director
Avalon Ventures Kevin is the founder of Avalon Ventures and has specialized in the formation, financing and development of more than 125 early-stage companies. Kevin was also the founding chairman of Athena Neurosciences, Aurora Biosciences, Landmark Graphics, NeoRx, Onyx Pharmaceuticals, Synaptics, Vertex Pharmaceuticals, X-Ceptor and Sequana Therapeutics. Prior to founding Avalon, Kevin worked for Solar Turbines International (Caterpillar Tractor) where he directed all international joint ventures, barter and counter-trade. Previously, he was an advisor to the Peruvian government in national nutrition planning where he developed the first commercialization plan for quinoa, ran a technology exchange program between the U.S. and Latin America based in Mexico City, and taught algebra at the American High School in Beirut, Lebanon. Kevin received his bachelor’s degree in management from MIT with minors in electrical engineering and political science, and his master’s degree in international relations from Johns Hopkins School of Advanced International Studies. Kevin conducted his post-graduate work in political economy on a Rotary International Fellowship at the University of Stockholm, Sweden.
Joanne Kotz, Ph.D.
Director
Joanne has broad life sciences experience in research, business and operations. She helped formulate the initial scientific strategy for Jnana and has led the business and operations of the company since its launch. Prior to Jnana, she was assistant director of the F-Prime Biomedical Research Initiative, whose mission is to advance the discovery of novel therapeutic agents for the treatment of neurodegenerative disease by funding early-stage research in academia and biotech companies. Before F-Prime, Joanne was a director at the Broad Institute, where she held a leadership role in creating and guiding partnerships to advance drug discovery efforts, including the Broad-Bayer collaboration in oncology that resulted in the identification of multiple drug candidates. At Broad, Joanne also developed a model for rare disease research that directly involved patients in the research team. Joanne received her doctorate in chemistry from the University of California, Berkeley and bachelor’s in chemistry from the University of Florida. She conducted her postdoctoral research at the Necker Children’s Hospital in Paris and Genentech. Following Genentech, she was at Nature Publishing Group, including as founding editor of the journal Nature Chemical Biology.
Terry McGuire
Director
Don Nicholson, Ph.D.
Chair
Dr. Nicholson was most recently CEO at Nimbus Therapeutics. Prior to Nimbus, Dr. Nicholson spent 25 years at Merck, where he held various strategic, leadership and operational roles across diverse therapeutic areas including inflammation, immunology and neuroscience, amongst others. He began his career at Merck Frosst in Montreal as a senior research biologist and advanced through various positions of increasing responsibility, including vice president and site head of the Merck Neurosciences Research site in San Diego, vice president of immunology and infectious diseases and then vice president and worldwide discovery head for the Bone, Respiratory, Immunology and Endocrine franchise based in New Jersey. Don has co-authored more than 150 publications in peer-reviewed scientific and medical journals and is internationally recognized for his contributions to the field of apoptotic cell death. Don received his doctorate in biochemistry from the University of Western Ontario and trained as a Medical Research Council postdoctoral fellow at the University of Munich in Germany. He is the recipient of multiple academic and professional honors. Don is also a member of the Board of Directors of Kymera Therapeutics and Generation Bio.
Carlo Rizzuto, Ph.D.
Director
Versant Ventures Carlo is a partner at Versant Ventures and focuses on biotech investing and company building for a number of Versant’s portfolio companies including Quentis, VenatoRx, Repare, Pandion, Jnana and Gotham. In addition to Versant, Carlo currently serves as chief executive officer of Highline Therapeutics, Versant’s New York City-based discovery engine. Carlo joined Versant from Novartis where he led global product development teams and helped advance their innovative pipeline products. Prior to his role at Novartis, he held the position of associate principal at McKinsey & Company, advising U.S. and European clients in the pharmaceutical, payor and provider sectors. Prior to joining McKinsey, Carlo helped found engeneOS (Adnexus Therapeutics). Carlo received his doctorate in virology from Harvard University and his bachelor’s degree in biology from the University of Virginia.
Stuart Schreiber, Ph.D.
Director
Stuart is a Morris Loeb professor in the Department of Chemistry and Chemical Biology at Harvard University, Howard Hughes Medical Institute investigator and an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences. He has been a founding core member of the Broad Institute since 2003. Stuart is a world leader in chemical biology, using small molecules as probes in uncovering biological functions. He has provided some of the most significant small-molecule-based advances, including small-molecule probes of extremely difficult targets and processes (e.g., transcription factors, oncogenes, protein/protein interactions, transdifferentiation of cells) that are at the root of human disease. He received his bachelor’s degree in chemistry from the University of Virginia and his doctorate in organic chemistry from Harvard University.
Nikola Trbovic, Ph.D.
Board Observer
Nikola Trbovic, PHD is Executive Director, WRD and Principal at Pfizer Ventures. Nikola is responsible for identifying, evaluating, making and managing equity investments aligned with the future directions of Pfizer. He currently has responsibility for Pfizer’s investments in Arrakis, Artios, Cydan, Jnana, Nimbus and Palleon.
Prior to his current role, Nikola held responsibilities for R&D technology investments, R&D strategy and early clinical portfolio management in Worldwide Research & Development at Pfizer. Nikola joined Pfizer from McKinsey Co., where he served as an Associate Principal and senior member of the Pharmaceuticals Practice, advising top pharmaceutical, biotech, and healthcare companies on a range of strategy, corporate finance and commercial topics across geographies and therapeutic areas.
Nikola received a BS in Biochemistry from the University of Frankfurt, Germany, and holds a PhD in Biochemistry and Molecular Biophysics from Columbia University.
Scientific Advisory Board
Charlie Albright, Ph.D.
Ben Cravatt, Ph.D.
Lisa Olson, Ph.D.
Stuart Schreiber, Ph.D.
Jim Wells, Ph.D.
Katalin Susztak, M.D., Ph.D.
Dr. Katalin Susztak is a physician-scientist at the University of Pennsylvania. Her laboratory is interested in understanding the pathomechanism of chronic kidney disease development. Susztak has made discoveries fundamental towards defining critical genes, cell types and mechanisms of chronic kidney disease. She was instrumental in defining genetic, epigenetic transcriptional changes in diseased human kidneys. She identified novel kidney disease genes and demonstrated the contribution of Notch signaling and metabolic dysregulation in kidney disease development.
Her lab was the first to map the kidney epigenome and catalogue genotype-driven gene-expression variation (eQTL) in human kidneys. Integration of GWAS, eQTL and epigenome data has been essential to prioritize disease-causing genes and variants.
Dr. Susztak generated the first unbiased, comprehensive kidney cell-type atlas using single cell transcriptomics. She identified that specific renal endophenotypes are linked and likely caused by the dysfunction of specific cell types.
In follow-up animal model studies, she conclusively demonstrated that MANBA, DAB2, DACH1 and APOL1 are new kidney disease risk genes. Her work established the role of proximal tubule cells, endolysosomal trafficking, metabolic and developmental pathways in kidney disease development.
Susztak’s discoveries span genetics, genomics, epigenetics, molecular biology, physiology and nephrology, and have enormous translational relevance and considerable therapeutic potential.
Dr. Susztak has been the recipient of the 2011 Young Investigator Award of the American Society of Nephrology and American Heart Association; one of the most prestigious award given to researchers under the age of 41 in the field of nephrology. Her laboratory is supported by the National Institute of Health, the American Diabetes Association, the Juvenile Diabetes Research Foundation and private sources.
“I think this is a really exciting time in science. New technologies are emerging, which will really accelerate research progress, and I think we have fantastic new discoveries ahead of us in biology.”
Ramnik Xavier, M.D., Ph.D.
Ramnik is a core institute member of the Broad Institute of MIT and Harvard and a co-director of the Broad’s Infectious Disease and Microbiome Program. Ramnik is also the Kurt Isselbacher professor of medicine at Harvard Medical School, director of the Center for Computational and Integrative Biology, a member of the Department of Molecular Biology at Massachusetts General Hospital (MGH) and co-director of the Center for Microbiome Informatics and Therapeutics at MIT. As a clinical gastroenterologist and molecular biologist, Ramnik studies the specific molecular mechanisms involved in innate and adaptive immunity as well as the genetic variants associated with Crohn’s disease, ulcerative colitis and autoimmunity. By determining the physiological functions of inflammatory bowel disease-associated polymorphisms, his work illuminates processes underlying mucosal homeostasis and inflammation. Ramnik has spent his academic career at MGH serving as chief of gastroenterology and director of the Center for the Study of Inflammatory Bowel Disease at MGH.
