About Us

The Alagille Syndrome Alliance (ALGSA) is the leading 501c3 patient advocacy organization in the world serving families affected by Alagille Syndrome, a rare cholestatic liver disease and one of over 7,000 rare diseases in the world.

The ALGSA staff and board is made up of professionals in the ALGS community including patients, caregivers, and friends all deeply understanding of the complex and difficult nature of ALGS.

MISSION STATEMENT Mobilizing resources, facilitating connections, promoting unity, and advocating for a cure to inspire, empower, and enrich the lives of people affected by Alagille Syndrome.

VISION ALGS Warriors thrive in a close-knit community full of loving support, easily accessible resources, and life affirming hope.

GOALS

  • Support the ALGS community by continuing our innovative efforts that emphasize education, opportunities to connect, access to resources, and individual support.
  • Build capacity to increase engagement in advocacy and research, helping support development of therapies that benefit ALGS Warriors around the globe.
  • Engage medical professionals to broaden knowledge of ALGS, develop guidelines for care, communicate with practitioners, and inform medical students through ALGS education.
  • Offer a symposium every three years for families to access resources that meet their needs and help them thrive.
  • Levereage staff resources and external relationships to stay financially healthy and sustainable.
  • Implement an operational model that allows for growth and continues to encourage flexibility and responsiveness to the needs of our community.

Founder

Cindy Luxhoj

is the mother of three young adults and Founder of the ALGSA. When Alaina, her first child, was born in 1990 and diagnosed at three months with ALGS, Cindy embarked on a quest for information in the world of rare disease and, in 1993, founded the ALGSA. During her 22-year tenure as President, Cindy dedicated her every available volunteer hour to helping families cope with the daily challenges of ALGS. Alaina lost her 24-year battle in January 2015 while waiting for a liver transplant and now lives on in the memory of the community who loved and admired her. Cindy left the ALGSA in September 2018 after serving on staff as Executive Director for nearly three years. Now, as Alaina did, she is living, laughing and loving every minute of the next chapter of her journey.

Staff

Roberta Smith

Roberta Smith

President
Roberta Smith

Cher Bork

Executive Director
Roberta Smith

Stephanie Mullett

Program Administrator

Roberta Smith

Karsten Baumgaertel

Scientific Research Coordinator

Board

Roberta Smith

Julia Bird

Chairman / Secretary

Roberta Smith

Todd Allen

Treasurer

Roberta Smith

Shambhavi Ravishankar

Director
Roberta Smith

Mike LaRosa

Director
Roberta Smith

Sean Kelley

Director

Honorary Emeritus Board Member

Roberta Smith

Alaina Hahn

Honorary Board Member

ALGSA Advisory Council

Dr. David Piccoli

Children’s Hospital of Philadelphia
Philadelphia, PAChildren’s Hospital of Philadelphia
Philadelphia, PA

Dr. Binita Kamath

Dr. Kamath is an internationally recognized expert in pediatric hepatology, specializing in cholestatic and inherited liver disorders, particularly Alagille syndrome. Her groundbreaking research includes the establishment of the GALA study, a global database of Alagille syndrome patients, and laboratory work focused on understanding the molecular basis of liver diseases through stem cell differentiation. Her contributions extend to the study of frailty and sarcopenia in children with liver disease, an area of significant unmet need.
Dr. Binita M. Kamath was educated at Cambridge University and trained at several London hospitals, including Kings College Hospital. She moved to the Children’s Hospital of Philadelphia in 2000 and completed her fellowship in GI, Hepatology and Nutrition. She joined the faculty in 2006 and developed a strong interest in cholestatic liver disease, specifically Alagille syndrome. She took a faculty position at the Hospital for Sick Children, Toronto in 2009 as a Hepatologist and Clinician-Investigator continuing to work on biliary diseases and utilizing stem cell biology to develop disease models. In 2022 she was appointed the interim Division Head in the Division of Gastroenterology, Hepatology and Nutrition at the Hospital for Sick Children and served in this position until 2024. That year, she returned to the Children’s Hospital of Philadelphia as the Chief of the Division of Gastroenterology, Hepatology and Nutrition at the Children’s Hospital of Philadelphia (CHOP). She is also a Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
Dr. Kamath’s leadership is evident in her roles within numerous national and international professional societies, including the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) and the Childhood Liver Disease Research Network (ChiLDReN). She is a prolific author, with over 130 peer-reviewed articles, and serves as an Associate Editor for Hepatology. Beyond her research and clinical work, Dr. Kamath is a dedicated mentor and educator, having supported new physicians for over two decades. Her numerous awards, including the Alagille Syndrome Champion Award and the Janet Rossant Research Innovation Prize, highlight her exceptional contributions to the field of pediatric hepatology.

Dr. Ruben Quiros

University of Nebraska Medical Center
Omaha, NE

Dr. Jeffrey Feinstein

Dr. Jeffrey A. Feinstein is the Dunlevie Family Professor of Pulmonary Vascular Disease and a Professor of Pediatrics (Cardiology) at Stanford University Medical Center, with a courtesy appointment in Bioengineering. He serves as the Director of the Vera Moulton Wall Center for Pulmonary Vascular Disease and the Medical Director of the Pediatric Pulmonary Hypertension Program at Lucile Packard Children’s Hospital at Stanford. His clinical focus encompasses pediatric cardiology, pulmonary hypertension/pulmonary vascular disease, congenital heart defects, and related conditions such as Alagille Syndrome. 
Previously, Dr. Feinstein has held positions including Associate Chair for Education in the Department of Pediatrics and Director of the Pediatric Cardiology Training Program. His research interests center on computer simulation and modeling of cardiovascular physiology, evaluation and treatment of pulmonary hypertension, and the development of medical devices and therapies for congenital heart and pulmonary vascular diseases. He is also actively involved in numerous boards, advisory committees, and professional organizations, and is a co-founder of Gradient Denervation Technologies. 
Outside of his professional interests, Jeff enjoys cycling, golf, travel, doing volunteer work, and spending time with his wife and sheepadoodle (and kids when they have time for him). 

Richard Pencek

Rich is a senior director of clinical development at Pliant Therapeutics, Inc. He received a PhD in liver physiology from Vanderbilt University and has over 18 years of experience focused on the clinical development of novel therapeutics for the treatment of metabolic and rare liver disease with an expertise in Phase 2-4 clinical trial development and execution. Outside of science, Rich enjoys photography, hiking and cooking for friends and family.

Pamela Stephenson

Pamela Stephenson is a strategic life sciences executive and board director with a proven track record of guiding R&D-stage biotechs to their first commercial launches. Pamela currently serves as Chief Commercial Officer for Disc Medicine, a biopharmaceutical company dedicated to transforming the lives of patients with hematologic disorders. Pamela previously was Chief Commercial Officer at Albireo Pharma, where she spearheaded a commercial strategy that launched Bylvay (odevixibat) in the US and Europe. Earlier, Pamela held a series of critical roles at Vertex Pharmaceuticals, where she launched the company’s first commercial product, Incivek for hepatitis C, and later held leadership roles in cystic fibrosis sales, marketing, and global market access. 

Pamela began her career in the US Peace Corps as a maternal and child health volunteer in Morocco. She later had multiple marketing roles at Pfizer, ultimately leading Viagra marketing in the US. Pamela also served as a Board Member of Zynerba Pharmaceuticals, a biotech company specializing in rare neuropsychiatric conditions. 

Pamela earned an MPH from Boston University and a BA in Biology from Brown University. Pamela and her husband Bryan enjoy traveling, skiing, spending time with their daughter and son, and walking their dogs in the Boston area. 

Steve Rodems

Steve is a cell biologist and drug developer who has been working in the rare disease space for over 25 yearsHe hails from Southern California, received his Ph.D. from University of Wisconsin- Madison (Go Bucky!), and headed right back to San Diego after too many Midwest wintersSteve has been at Travere Therapeutics for 10 years focusing on kidney, metabolic, and liver diseases including Alagille SyndromePrior to Travere, Steve spent 15 years at Vertex Pharmaceuticals working on a variety of rare, genetic disordersHe has been a champion of incorporating the patient voice as early as possible in the drug development process exemplified by Travere’s 3-way research collaboration with the ALGSA and NCATS to discover drugs for Alagille SyndromeHe enjoys wearing a patient advocacy hat and contributing to advancements aimed at changing the game for rare diseases such as how we collect patient data and modernizing newborn screeningIn his spare time, Steve enjoys spending time with his kids and grandkids, playing softball, and rooting on his favorite sports teams (Go Badgers and Padres!). 

Andrew E. Mulberg

Andrew is currently an Executive pharmaceutical leader leading strategy and operational aspects of drug and biological development for NDA and BLA submissions for pediatric and adult rare diseases, cystic fibrosis, gastroenterology and hepatology. He is currently Senior Vice President, Regulatory Affairs, Quality Assurance and Quality Control at Neurogene Inc, a company devoted to gene therapy approaches to management of neurodegenerative and neurodevelopmental disorders in children and adults including Rett syndrome. Formerly, he served Senior Vice President, Global Regulatory Affairs at Amicus Therapeutics from 2016-2020 and responsible for the approval of Galafold (migalastat) for the treatment of Fabry disease in adults. He has been involved in the registration planning for AT-GAA, a novel enzyme replacement therapy for Pompe disease in infants, children and adults.  He served as Division Deputy Director of Gastroenterology and Inborn Errors Products, Center for Drug Evaluation and Research (CDER), U.S. Food and Drug Administration (FDA) since 2010-2016.  Before joining FDA, Andrew was Portfolio Leader in Established Products responsible for worldwide leadership of Internal Medicine products in Johnson and Johnson from 2000-2010.  Andrew is a graduate of Columbia College of Columbia University and of the Mount Sinai School of Medicine.  He completed his residency in Pediatrics at the Children’s Hospital of Philadelphia followed by a Pediatric Gastroenterology Clinical Fellowship and a Post-Doctoral Fellowship in Cellular and Molecular Physiology at New England Medical Center.  Andrew is Adjunct Professor of Pediatrics at the University of Maryland School of Medicine and has served as Attending, Pediatric Gastroenterology and Nutrition at Cooper University Hospital in New Jersey caring for children with gastrointestinal diseases.  He is Principal Editor of Pediatric Drug Development: Concepts and Applications published in 2011 and 2013.  He is a member of Alpha Omega Alpha Honor Medical Society, American Gastroenterological Association and the North American Society for Pediatric Gastroenterology and Nutrition.

Dennis Black

Dennis Black, MD, is the James Dustin Buckman Professor of Pediatrics and Professor of Physiology at the University of Tennessee Health Science Center (UTHSC) in Memphis. Dr. Black serves as Scientific Director of the Children’s Foundation Research Institute of Memphis, as well as Vice President for Research for Le Bonheur Children’s Hospital (LBCH) and Vice Chair for Research for the Department of Pediatrics.

A native of the Memphis area, Dr. Black graduated from the University of Memphis and UTHSC. He completed his pediatric training and fellowship in Pediatric Gastroenterology, Hepatology and Nutrition at UTHSC and LBCH. His research and clinical interests are neonatal lipid absorption and metabolism and associated disorders, as well as pediatric liver disease and transplantation with a focus on pediatric primary sclerosing cholangitis (PSC) and other cholestatic liver diseases.

Dr. Black has received research funding from the National Institutes of Health (NIH) and the Food and Drug Administration, among others, and has authored more than 170 journal articles, book chapters, and abstracts. He has mentored numerous fellows, medical students, graduate students, postdoctoral fellows, and junior faculty. He has also served as chair and member of several national grant review committees, including those for NIH, American Liver Foundation, North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN), and American Heart Association. He served as a member of the editorial board of the American Journal of Physiology: GI and Liver Physiology from 2003-09 and has served on the executive councils of the Society for Pediatric Research and NASPGHAN. He was Vice Chair and Chair of the American Gastroenterological Association Council Section on Obesity, Metabolism and Nutrition from 2013-18 and was recipient of the Section’s Research Mentor of the Year Award in 2020.

Dr. Black received the UTHSC Outstanding Alumnus Award in 2017 and the Department of Pediatrics 2017 Outstanding Mentor Award. In 2018, he was awarded the NASPGHAN Gerard Odell Prize for Excellence in Hepatology Research. Dr. Black is a member of the scientific advisory boards of PSC Partners Seeking a Cure and the Alagille Syndrome Alliance and is a founding board member and President of the Abetalipoproteinemia and Related Disorders Foundation.

Dr. Black is married to Dr. Gail Beeman, also a pediatrician, whom he met while both were pediatric residents at LBCH in Memphis. They have three children, two dogs, and one cat. Dr. Black is co-owner of Black and Wyatt Records, a vinyl-only record company specializing in Memphis rock ’n’

Richard Thompson

Richard is Professor of Molecular Hepatology at King’s College London and Honorary Consultant at King’s College Hospital. He has spent the last 30 years trying to better understand the factors that lead to disease. His work has mainly concentrated on cholestatic liver disease, and he has focussed on the mechanisms by which genetic abnormalities lead to the phenotypes that trouble patients and everyone caring for them. He has a firm belief that this type of investigation will improve diagnosis, prognosis and therapy. He also loves walking and classical music. Luckily, thinking about disease mechanisms, listening to music, and walking, can be done at the same time!

Benjamin Forred

Ben has worked in the field of biomedical research since 2009. His experience ranges from nearly a decade working at the bench in basic science, to five years working in the clinical research space. Currently, Ben is responsible for translational research projects at Sanford Research. His team maintains a colony of transgenic mice and a vast number of patient and rodent cell lines that model a number of rare disorders. His group then partners with for-profit biopharma companies to screen promising therapeutics. Additionally, Ben and his team assist basic scientists with human subject research projects and coordinate clinical sample collection. Ben has also been responsible for the growth of the CoRDS Registry since 2016. CoRDS is an international, disease agnostic, rare disease registry offered at no cost to people living with rare conditions or to the researchers investigating rare disease. Through this endeavor, Ben has built strong relationships with a number of advocacy organizations, and he constantly works to put the wellbeing of rare patients at the forefront of all phases of his career. Outside of work, Ben is an avid woodworker, musician, husband, and father to four wonderful children.

Emma Andersson

Emma is currently an Associate Professor at the Karolinska Institutet in Stockholm, Sweden where she heads up a laboratory that studies how organs develop and mature. Her interest in Alagille Syndrome dates back to her postdoctoral training in the laboratory of Urban Lendahl, also at Karolinska. Emma has a PhD in Developmental Neurobiology and has been a visiting scholar at Rockefeller University and Yale. She is the recipient of multiple honors and awards including the Daniel Alagille award issued by the European Association for the Study of the Liver (EASL). In her spare time, Emma enjoys reading nonfiction, travelling with her family, and spending time at her off-the-grid cabin, fishing, and picking berries or mushrooms in the wilderness.

Nancy Spinner

Nancy Spinner, PhD is a Professor of Pathology and Laboratory Medicine at The University of Pennsylvania School of Medicine. She holds the Evelyn Willing Bromley Chair in Pediatric Pathology and is the Founding Chief of the Division of Genomic Diagnostics at The Children’s Hospital of Philadelphia, created in 2014. She has won several teaching and mentorship awards at the University of Pennsylvania. Her research is focused on the genetics and diagnosis of rare pediatric disorders, specifically on the genomics of Alagille syndrome, biliary atresia, ring chromosomes, and utilization of genome wide testing for pediatric diagnosis. She has served as a managing editor for the journal Human Mutation and as an assistant editor for PLoS Genetics, on the Scientific Advisory Board for the Alagille Syndrome Alliance and the Ring20 Research and Support UK, on the Board of Directors for the American Society of Human Genetics (ASHG) as well as on multiple ASHG committees. Nancy enjoys daily walks with the dogs (and sometimes the cats), watching the sunrise, spending time with her extended family (preferably in Tuscany or Acadia National Park) always a glass of wine with family, friends and colleagues

Kathleen M. Loomes

Kathleen M. Loomes, MD is an attending Hepatologist at The Children’s Hospital of Philadelphia and Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.  Dr. Loomes is also Section Chief for Research in the Division of Pediatric GI, Hepatology and Nutrition and Director of the Fred and Suzanne Biesecker Pediatric Liver Center at CHOP.  She has been studying Alagille syndrome (ALGS) since 1997, when she entered the laboratory to study the role of JAG1 in organ development in mouse models.  Over the last 25 years, Dr. Loomes has conducted basic, translational and clinical research in ALGS.  She has a special interest in bone development and fracture vulnerability in this patient population.

Henry Lin

Henry Lin is a pediatric hepatologist at Doernbecher Children’s Hospital in Oregon. He enjoys working with children and their families and is committed to providing high quality medical care while working to improve access to healthcare. His research focus is on improving outcomes for pediatric liver disease, and physician-caregiver-patient communication strategies. He is passionate about teaching medical students and trainees. Henry is excited to continue to support the ALGSA. He enjoys rock climbing, barefoot running, and trying new recipes.

Ronald Sokol

Ronald J. Sokol, MD, FAASLD, Distinguished Professor of Pediatrics, received his medical degree from the University of Chicago Pritzker School of Medicine and completed pediatric residency training and Chief Residency at the University of Colorado (CU) School of Medicine. He completed fellowship training in Pediatric Gastroenterology and Nutrition at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati. He has been a faculty member at University of Colorado School of Medicine since 1983. He was the founding Director of the Pediatric Liver Center at CU School of Medicine and his clinical interests are congenital, genetic and metabolic liver diseases of infants and children. His research includes basic, translational and clinical studies and trials centered on the pathogenesis, mechanisms, nutrition and treatment of childhood cholestatic liver diseases. He has been Chair of the Steering Committee, Executive Committee and Administrative Core of the multi-site NIDDK/NIH funded Childhood Liver Disease Research Network (ChiLDReN) since its inception in 2002. Currently, he is the Chief Scientific Officer, Child Health at CU Anschutz Medical Center and Children’s Hospital Colorado and Associate Dean for Child Health Research at CU SOM. He has been the Principal Investigator and Director of the Colorado Clinical and Translational Sciences Institute (funded by NCATs CTSA grants) since 2008 and the Assistant Vice Chancellor for Clinical and Translational Science at CU Denver. He was Section Head of Pediatric Gastroenterology, Hepatology, and Nutrition for 16 years until May 2022. He is past President of AASLD and NASPGHAN. He has authored over 315 peer-reviewed papers, 130 book chapters, review articles and books and is co-editor of the leading pediatric liver disease textbook, Liver Disease in Children. In his spare time, Ron enjoys hiking and camping in the mountains of Colorado and spending time with family and grand-daughter.

Philip Rosenthal

Dr Rosenthal is the Professor in Residence, Emeritus Recall, Director of Pediatric Clinical Research and Director of Pediatric Hepatology at UCSF. I have research expertise in pediatric liver disease, obesity and nonalcoholic fatty liver disease, hepatitis B, hepatitis C, alpha-1-antitrypsin deficiency, acute liver failure, biliary atresia, neonatal hepatitis, Alagille syndrome, cholestasis, and pediatric liver transplantation. I have extensive experience as a principal investigator in NIH-funded multicenter longitudinal cohort studies and trials at UCSF with consistently successful enrollment and productive participation in these studies. My research for the past 30 years has focused on pediatric liver disease including the diagnosis, management, and treatment of these disorders.