Kimberly Nye, President
Kim lives in California with her husband, Zach, and their four kids: Tessa, Lily, Maggie and Colton. Both Tessa and Colton have SLC13A5 mutations. Kim holds a BA from Princeton. She was a graduate student at Oxford University when she gave birth to her first daughter, Tessa. For the last 10 years, Kim has been searching for the underlying cause of Tessa and Colton’s seizures and movement problems. This search has involved a tremendous team of dedicated doctors and researchers and their participation is key as we move beyond diagnosis and look to treatment options for people with SLC13A5 mutations. Kim and her family are eager to share their story and connect with other families facing citrate transporter disorders. Over the last decade Kim has been involved with the pediatric neurology and medical genetics community in the United States. She is currently on the Steering Committee for REN and she serves as a Lay Reviewer for CURE.
Paula Gani, J.D., Secretary
Paula Gani has been an attorney to various Silicon Valley technology companies. She holds a B.A. in Human Biology from Stanford University and a J.D. from the University of Wisconsin. Paula has handled health policy matters for a local community organization on a pro bono basis, and she currently serves as a parent advisory board member to the Stanford Autism Center at Packard Children’s hospital.
Kevin McDonnell, Treasurer
Kevin McDonnell is CEO and Chairman of Eclipse Data Technologies, an optical media equipment manufacturing company he founded in 1995. Eclipse provides products to the optical disc and entertainment industries. The majority of CD, DVD, and Blu-Ray discs produced in the world are done so with Eclipse products. Prior to that, Kevin founded the magnetic media replication company Trace Products where he served as Vice President of R&D and Director from 1984 until 1995. He holds a BS in Computer Science from the University of California Berkeley.
Since 1994 Kevin has been a volunteer pilot for the Alameda County Sheriff’s Air Squadron and has served as Commander of the Western States Association of Sheriff’s Air Squadrons since 2016.
Courtney Lodato Alberti, Director
Courtney is Director of Renewal Communications for Stanford Medicine, which includes the new Stanford Hospital, renovation of the original adult hospital and other Stanford Medicine real estate and land use initiatives. A graduate of University of California, Santa Barbara, Courtney worked as a journalist before beginning her career in PR and was named one of PR Week’s “Top 40 Under 40”.
Adam Alberti, Director
Adam is Managing Partner at Singer Associates, Inc. Adam is a graduate of the University of California, Berkeley, where he graduated with distinction and was awarded a BS in both Political Science and Environmental Sciences Policy Management. Adam is also a Veteran of the Persian Gulf War, where he served as a Navigator on board the historic “Mighty MO,” USS Missouri, BB-63 and the USS Long Beach, CGN-9.
Dennis McDonnell, Director
Dennis served as a Director and CFO of Eclipse Data Technology, Inc., a leading provider of DVD and Blu-Ray Replication from 2002 until 2009. Prior to that, he was the President, CEO and Chairman of the Board of Trace Products Inc., a publicly traded company that was the leading provider of magnetically recorded digital replication equipment from 1985 – 2005. From 1983 – 1985, he was Area Software Center Manager for Hewlett Packard. Dennis is excited to learn about the world of rare diseases and to help raise awareness about SLC13A5.
Judi Rees, Director
Judi has a long history of serving on nonprofit boards, including Make-A-Wish, Adalyn Jay Foundation and the Ronald McDonald House. She is inspired by her beautiful granddaughter Maggie, who has a rare genetic epilepsy, to help our pediatric epilepsy community.
Lee Scheuer, Director
Lee Scheuer is founder and Chairman of International ProInsurance Services, Menlo Park, CA for the past 43 year. Lee received an undergraduate degree from the University of Miami, and a graduate degree from American College. Before beginning his career with New York Life, Lee was a teacher of for two years working with special needs teens.
Lee has served on many group advisory boards of insurance companies such as Travelers Insurance Company, The Guardian Life Insurance Company, Anthem Blue Cross and Blue Shield of California. He has also served on the Boards of many local community organizations such as the Sequoia YMCA, International Committee and The American Youth Soccer Organization. Lee is the owner of the Bennett T. Scheuer Learning Center a Special Education facility in Camden, Maine and a supporter of the Literacy Program of Mid-Coast Maine.
Lee and his wife Kim have two children and 3 grandchildren which bring him a tremendous amount of Joy to his life
Lee enjoys spending time with his family, camping (preferable near streams, rivers or oceans), fishing, snow skiing, sailing, woodworking, traveling and spending time and assisting with special needs children/adults.
E. Robert Wassman, MD, Director
Dr. Wassman has pioneered the introduction of genetic testing and personalized medicine for over 35-years. His focus has been on the translation and delivery of cutting-edge diagnostic technology to clinical service in the areas of reproductive medicine, rare cell/non-invasive diagnostics, and Next Generation DNA sequencing spanning clinical disciplines of reproductive genetics, cancer and companion diagnostics, and neurodevelopmental disabilities including autism. His strategic insights, deep knowledge, and “quick study” abilities have enable him to achieve numerous “firsts” in many areas.
He has served as Chief Medical Officer for multiple companies in this space including Genzyme Genetics, Lineagen, Rosetta Genomics, Generation Health, Helicos Biosciences, Good Start Genetics, Celula, Ambry Genetics, Alfigen. He has co-founded several successful ventures, and served as a consultant to a wide variety of entities ranging from large and small clinical laboratories, IVD and Biotech companies, investor groups, regulatory agencies, payers and legal firms.
In addition to clinical and technical expertise he has laboratory and general operational, business development, medical affairs/marketing and sales experience. He had formal training and both public and private sector experience in reimbursement and managed care. He has had international experience in Europe, Japan and China.
He is a graduate of Yale University and Albany Medical College and Board Certified in Pediatrics and Medical Genetics.
Currently he serves as a senior executive adviser to a number of start-ups and other clients.
Brenda Porter, MD, PhD
Dr. Porter is currently a Professor of Neurology at Stanford University Medical Center. She received her M.D. and Ph.D. from Washington University in St. Louis, and completed a residency in pediatrics at St. Louis Children’s Hospital; pediatric neurology and pediatric epilepsy at Children’s Hospital of Philadelphia. Dr. Porter is the treating physician for Tessa and Colton Nye. Now that a cause for Tessa and Colton’s seizures and other neurologic problems has finally been identified, Dr. Porter is focused on determining how to best treat them and other children with SLC13A5 mutations. It is her hope that through this website greater awareness will be raised for the disorder and increased communication amongst other affected families and the health care professionals providing treatment to their children. Dr. Porter is very interested in speaking with other doctors taking care of children with SLC13A5 mutations. She can be reached directly via email.
Matthew Bainbridge, PhD
Dr. Bainbridge is the President and CEO of Codified Genomics. Matthew has worked with high-throughput sequencing since its inception. At Canada’s Michael Smith Genome Sciences Centre (BCGSC), he constructed the first algorithms for RNA seq, chip-seq, and structural rearrangement discovery for the 454 and Solexa sequencing platforms. He later received his PhD in structural and computational biology and molecular biophysics from his work at the Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC). There he helped develop the BCM-HGSC’s illumina analysis pipeline, capture-resequencing analytics and co-developed capture reagents, both regional and whole exome including some of the largest capture targets ever sequenced. His analytic tools were central to the analysis of one the first personal genomes used for medical diagnostics[Lupski]. Later, he led the team that discovered the molecular cause of DRD in siblings. This information was used, for the first time, to alter the management and medications the children received. Later, he used WES to find a novel gene for a previously undescribed disease, marking one of the first times WES was used to molecularly describe a disease prior to its clinical description.
Daniel Lowenstein, MD
Dr. Lowenstein is the Robert B. and Ellinor Aird Professor and vice chair in the Department of Neurology at UC San Francisco. He is also currently the executive vice chancellor and provost at UC San Francisco. Dr. Lowenstein received his BA degree in Mathematics from the University of Colorado, an MS degree in Man-Environment Relations from The Pennsylvania State University, and an MD degree from Harvard Medical School. He completed his residency in Neurology at UCSF and served a two-year fellowship in Nobel laureate Stanley Prusiner’s Laboratory, investigating the sequence homology of the PrP gene in various rodent species. Dr. Lowenstein joined the faculty in the Department of Neurology at UCSF, where he established the UCSF Epilepsy Research Laboratory. His laboratory studies have addressed the fundamental mechanisms of neuronal network remodeling that occur during epileptogenesis or the process in which a normal network transforms into a hyperexcitable network capable of producing or relaying seizure activity. He also helped create the Epilepsy Phenome/Genome Project (EPGP), an international, multi-institutional, collaborative study that is collecting detailed phenotype date on 5,250 subjects with specific forms of epilepsy. Dr. Lowenstein’s main clinical research has been on the management and treatment of patients with status epilepticus or unusually prolonged seizures. His epilepsy research has been recognized by several honors and awards, including the American Epilepsy Society’s 2001 Basic Research Award, 2012 Lennox Award given to a clinician-scientist who is the most outstanding investigators in the field of epilepsy research and the Ambassador Award from the International League Against Epilepsy.
Dr. Lowenstein has also helped to define scientific policy on a national level, having served on a number of committees, including as a member of the Advisory Council of the National Institute of Neurological Disorders and Stroke (NINDS) and Chair of the NINDS Clinical Trials Subcommittee from 2000-2004. Dr. Lowenstein was elected to the National Academy of Medicine for 2017, one of the most prestigious honors in the field of health and medicine.
Ana Pajor, PhD
Dr. Ana Pajor retired as a Professor from Skaggs School of Pharmacy and Pharmaceutical Sciences at UCSD in June 2018. She received her Ph.D. in Physiology from the University of Arizona (1988) and completed her Postdoctoral training at UCLA. Dr Pajor is an expert in sodium-coupled transporters, particularly the Na+/dicarboxylate cotransporters (NaDC) from the SLC13 family. She has been studying the SLC13 transporters for more than 25 years. She first isolated the cDNA coding for NaDC1 using the technique of expression cloning in 1995. NaDC1 and other members of the SLC13 family, including several NaDC3 orthologs, have been the focus of her research ever since. Her lab made fundamental discoveries in the area of structure-function relationships in the SLC13 family, as well as identifying bacterial homologs of NaDC1. Later, she started working on the Na+/citrate transporter NaCT (SLC13A5) to characterize specific inhibitors and to characterize genetic mutations in SLC13A5 that results in the citrate transporter disorder (SLC13A5 Deficiency/EIEE25). Dr. Pajor has received several research grants from TESS Research Foundation. She was also the recipient of our very first “TESS Research Superhero” award. Now that she is retired from the lab, we are thrilled to have her as an Advisor.
Dawn Blessing, MBA
Ms. Blessing is an expert in Rare Disease Drug Development and Corporate Strategy. She earned a B.S. in Chemistry from the University of Richmond and an M.B.A. from Columbia Business School. She has 25 years of experience in biotechnology finance, corporate strategy and drug development. Over this period, Ms. Blessing has focused on programs for rare diseases and the application of genetic information to drug development. She is currently Vice President, Corporate Development & Scientific Strategy at Zogenix. Previously, she served as Sr. Vice President Corporate Development at Modis Therapeutics, Vice President Corporate Development at Audentes Therapeutics, and Senior Director Business Development and Alliance Management at 23andMe Inc. Prior to 23andMe, Ms. Blessing spent 8 years in Business and Corporate Development at BioMarin Pharmaceutical Inc., originating or leading successful licensing efforts in multiple therapeutic areas for rare diseases, including preclinical and clinical-stage products. Prior to her role in industry, Ms. Blessing was a Biotechnology Equity Research analyst at Cowen and Company, UBS Securities, and Needham.
Hugh Rienhoff, Jr., MD
Dr. Rienhoff is a physician, entrepreneur and founder of several biopharmaceutical companies. He presently serves as CEO of Imago BioSciences, a clinical-stage, venture-backed company focused on the treatment of hematologic malignancies. Previously Dr. Rienhoff was the founder and CEO of FerroKin Biosciences, a clinical stage company acquired by Shire in 2012. He has more than 25 years experience as both a venture investor and entrepreneur in the life science sector. He was a partner at New Enterprise Associates and later, a director of Abingworth Management Ltd., running their US operation.
He received his M.D. from the Johns Hopkins University School of Medicine and his B.A. from Williams College.
Kimberly Nye, Executive Director
Kim lives in California with her husband, Zach, and their four kids: Tessa, Lily, Maggie and Colton. Both Tessa and Colton have SLC13A5 mutations. Kim holds a BA from Princeton. She was a graduate student at Oxford University when she gave birth to her first daughter, Tessa. Kim and her family are eager to share their story and connect with other families facing citrate transporter disorders. Kim has been involved with the pediatric neurology and medical genetics community in the United States for more than a decade. She is currently on the Steering Committee for REN and she serves as a Lay Reviewer for CURE. If you have any questions, send Kim an email.
Emily Hsu, Operations Manager
Before becoming operations manager for TESS Research Foundation, Emily had been volunteering for TESS since before their founding in 2015. She began as the Foundation’s webmaster and has since taken on several other roles for the organization, including working as an admin, as a database manager, and as a producer of educational outreach videos. Emily has a BA in English from Bryn Mawr College. She can be reached here.
Audra Loftman, PhD, Program Manager
Audra joins our team with 12 years experience working on a novel treatment option for people living with medically-resistant focal epilepsy. As a member of product development and clinical teams, she helped to bring the first implantable responsive neurostimulator system from development to FDA approval. Audra holds a PhD in biomedical engineering from Duke University, a master’s degree in mechanical engineering from Stanford University, and a bachelor’s degree in mechanical engineering and Russian. Audra is honored to be a part of the TESS team and is determined to help those impacted by Citrate Transporter Disorder SLC13A5. Audra lives in Menlo Park with her husband and three children.
Cat Gasol, MA, Director of Communications
Catherine is the Director of Communications for TESS Research Foundation. She has a work background in Communications, Sales, Business and Marketing and a Master’s Degree in Communication Management from University of Southern California. She is the aunt of two children with SLC13A5 Deficiency and knows how devastating this disease is for families. Catherine is determined to help raise awareness, connect families and find a cure.
Nicole Windisch, Family Outreach
Nicole lives in New York with her husband, Rich and their 3 kids, James, Matthew and Meredith. Meredith has the SLC13A5 mutation. Nicole found the TESS Research Foundation while researching Meredith’s condition. Since then, she has taken an active role in raising awareness and fundraising. Nicole created our silicone bracelet fundraiser and is determined to help find a cure.
Tammy Wester, Community Outreach
Tammy heads our community outreach and volunteer program. She has been with TESS Research Foundation since it started, and she is the queen of organization. In addition to raising awareness at community events, she spearheads our snail mail communications.
Deepti Dubey, PhD, Scientific Officer
Dr. Dubey is scientific officer for TESS Research Foundation. She received her PhD from Indian Institute of Technology, Kanpur, India. She later did her postdoctoral training in the department of Neurology at Stanford University. Her research career is focused on understanding underlying molecular mechanisms of epileptic disorders including Lafora Disease, a rare genetic form of progressive myoclonus epilepsy and temporal lobe epilepsy induced by brain insults using cell and animal models. Dr. Dubey is interested in applying her research experience to facilitate understanding of rare genetic disorders like SLC13A5 deficiency along with exploring immediately available treatment options. You can email Deepti here.
Zachary Nye, PhD
Zach is a financial economist and senior consultant at Stanford Consulting Group. He holds degrees from Princeton University, London Business School and University of California, Irvine. Zach is the parent of 2 children with SLC13A5 mutations.
Jordan Lodato-Hunt, MSW, LCSWA
Jordan currently works for the Duke Clinical Research Institute in North Carolina. She holds a BA in Psychology from Stanford University and her MSW from UNC at Chapel Hill. Most of Jordan’s previous research experience has pertained to health and development, and especially the psychosocial impact of chronic illness.
Celeste has 5 children, 2 step-children, and 11 grandchildren. Two of her grandchildren have been diagnosed with SLC13A5. Celeste holds a BA from University of Oregon and a Masters in Education from Lewis and Clark. Early in her career, she worked as a special education teacher. Celeste is determined to help improve the lives of those living with the SLC13A5 disease.
William Nichols, MBA, CPA
Bill retired in 2000 as Treasurer of the William and Flora Hewlett Foundation, Menlo Park, California. Bill’s other endeavors included Associate Professor of Accounting and Finance at San Jose State University, Controller and Assistant Treasurer of Saga Corporation, Menlo Park, CA and Certified Public Accountant with Price Waterhouse in San Francisco, California and Sydney, Australia. Bill is a graduate of Stanford University with a degree in AB and an MBA. Bill has a wide range of experiences serving on numerous Board of Directors positions; currently he serves as Treasurer of the Lucile Packard Foundation for Childrens Health and Chair of Investment and Finance Committees, Avenidas, both of Palo Alto, California; past member of Channing House, Palo Alto, California and Trustee of the Investment Fund for Foundations, in Virginia. Bill is a Certified Public Accountant in the state of California and holds membership in Financial Executives Institute; Institute of Management Accountants and California State CPA Society.
Blaine Nye, PhD, MBA, MS
Blaine is President of Stanford Consulting Group, Inc. He holds degrees from University of Washington, Stanford University, and Stanford Business School. Before founding SCG in 1981, Blaine played professional football for the Dallas Cowboys.
Maureen has 3 children, Landon (9), Brady (8) and Alaina (5). Brady and Alaina have been diagnosed with the SLC13a5 mutation. Her family is from sunny Florida and they spend much of their time on the soccer field or by the pool. As a family they have traveled across the country for answers, treatment and research.
Prasad Vattikutti lives in Texas with his wife and 2 young children who have SLC13A5 mutations.