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 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 is a cell biologist and drug developer who has been working in the rare disease space for over 25 years.  He 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 winters!  Steve has been at Travere Therapeutics for 10 years focusing on kidney, metabolic, and liver diseases including Alagille Syndrome.  Prior to Travere, Steve spent 15 years at Vertex Pharmaceuticals working on a variety of rare, genetic disorders.  He 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 Syndrome.  He 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 screening.  In 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 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, 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’

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.

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.

Ken is Medical Director, Digital Health, Chief of the Division of Pediatric Ophthalmology and Strabismus at Children's Hospital of Pittsburgh of UPMC, Assistant Medical Director, UPMC International Medicine, Executive Vice Chair, Department of Ophthalmology, Vice Chair, Quality, and Professor of Ophthalmology at the University of Pittsburgh School of Medicine.

He attended King's College Hospital Medical School of the University of London and completed ophthalmology residencies at both Birmingham and Midlands and the Oxford Eye Hospital in the United Kingdom. He completed his pediatric ophthalmology fellowship at The Hospital for Sick Children in Toronto. Prior to joining Children's Hospital of Pittsburgh in 2011, Ken was attending at Great Ormond Street Hospital for Children in London, UK.

Ken is one of the pioneers of pediatric corneal transplants. Children from all over the world come to see Dr. Nischal because of his expertise in helping children with genetic corneal diseases. His research focus is on evidence-based protocol led clinical care with clinical outcome measures to drive clinical care. His main areas of clinical research are anterior segment developmental anomalies affecting the cornea, lens, and trabecular meshwork. He has published widely on the topics of pediatric cataract, glaucoma, and cornea as well as craniofacial anomalies.

He is a member of the Scientific Advisory Board of the Pediatric Glaucoma and Cataract Family Association (PGCFA) and has contributed articles and responses to our Ask the Doctor feature. He is the founder and co-director of the World Society of Pediatric Ophthalmology and Strabismus, a magnate charity and an outstanding organization with members from around the globe.

In his spare time, Ken enjoys African music, live music, and traveling.

Mariana Matioli da Palma, MD, is a distinguished ophthalmologist and vitreoretinal surgeon based in São Paulo, Brazil. She earned her Ph.D. through a collaborative program between the Federal University of São Paulo (UNIFESP) and the University of Barcelona in Spain, specializing in ocular genetics. Dr. Matioli da Palma further honed her expertise during a fellowship at the Casey Eye Institute within the Oregon Health & Science University, focusing on the Ophthalmic Genetic Division. There, she received extensive training in retinal diseases and gained proficiency in retinal gene therapy techniques. Notably, her research has contributed significantly to understanding ocular manifestations in patients with Alagille syndrome, resulting in one of the most comprehensive accounts of ocular findings in ALGS to date. During weekends Dr Matioli da Palma loves going to the movie theater and her favorite movies are real-life stories.

Melissa Gilbert is an Assistant Professor at the University of Pennsylvania and The Children’s Hospital of Philadelphia where she has been studying Alagille syndrome for 9 years. Her projects focus on resolving diagnostic uncertainty and understanding variable expressivity associated with the disease. Specifically, she is interested in designing high-throughput assays to investigate the functional effects of missense variants in JAG1 and NOTCH2 to better understand their contribution to disease. Moreover, she uses animal models to better understand genetic modifiers of Alagille syndrome. Together with Dr. Nancy Spinner, Melissa also helps to manage a large ALGS research study that has been actively enrolling patients and family members since the 1990s. Melissa is a mom of three kids (an eight year old and twin five year olds). Melissa is an avid skier and has been having fun teaching her kids and watching them develop a love for the sport as well.

Hi! I am an Associate Professor at Karolinska Institutet in Stockkholm, Sweden. My lab is interested in how Notch signaling controls development of different organ systems. Since JAG1, a key Notch ligand, is one of the main genetic determinants of Alagille syndrome, my lab is very interested in how different organs develop in Alagille syndrome, when JAG1 is mutated.

We developed and characterized a mouse model for Alagille syndrome (Andersson at al Gastroenterology 2018), showing that this mouse has fewer bile ducts in the liver, like children with Alagille syndrome. We also discovered that the bile duct cells themselves can be present, but don’t “know up from down”, and are oriented in incorrect directions, which we think contributes to the disease. The mouse model, like some children with Alagille syndrome, can sometimes recover spontaneously from the liver disease, and re-grow its biliary tree. We developed a method to “see” the biliary and vascular trees in the mouse liver, in order to really understand what the disease and recovery process look like in the liver (Hankeova et al eLife 2021). We now use this mouse, and work with cell culture models (mini organs in a dish, “organoids”) to study how organs develop or could be treated in Alagille syndrome.

Our recent work showed that bile ducts in different parts of the liver (in the mouse model) are very different from one another (and very different from healthy bile ducts) and respond differently to potential treatments (Iqbal et al Liv Int 2024). We are also interested in how Notch controls development of the vasculature, and how this is affected in Alagille syndrome. Again, we used the mouse model to study blood vessel development and stability, and found that blood vessels in the mouse model have several different problems that could individually contribute to frail vessels (Hankeova et al EMBO Mol Med, 2022). We tested whether some of these problems could be seen in children with Alagille syndrome, using non-invasive retinography, and found that the blood vessels in some children’s retinas also showed irregular shapes, or were reduced in number. Now we wonder how this could affect retinal health, and whether blood vessel health in the eye would be correlated to the health of other blood vessels in the body.

Finally, we are generally interested in how Notch controls the establishment of patterns in our different organs, and here the inner ear is a beautiful example of a patterned organ. One of the projects in our lab investigates the establishment of hearing (and the development of hearing organs) in the mouse model (De Haan et al, bioRxiv, 2024).

In sum, we are very interested in how JAG1 controls development. We believe that by understanding this, we will better understand the disease process and provide a basis to devise and test therapies.

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.

Dr. Bedia Marangozoglu Sahin is an ophthalmologist. She received her medical degree with honors from the School of Medicine at Karadeniz Technical University in Ortahisar, Turkey. She completed her residency training in Ophthalmology at Kahramanmaras Sutcu Imam University in Onikisubat, Turkey. Since then, she has been working as an ophthalmologist at Karaman Education and Research Hospital, Karaman, Turkey. With a strong interest in genetic ophthalmic disorders, she completed an observership at the Children’s Hospital of Philadelphia in 2024.
Dr. Sahin is the mother of two energetic girls. In her spare time, she enjoys spending time with her family, exploring new places, and discovering diverse cultures.

Dr. David Weber is a pediatric endocrinologist and bone health specialist at The Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (PENN). He completed medical school at the University of Kansas, pediatric residency at Yale, and pediatric endocrine fellowship at CHOP. He is the medical director of the Center for Bone Health at CHOP, which is a multi-disciplinary clinical program that cares for people with all manners of childhood onset bone and mineral disorders, including individuals with Alagille Syndrome.

Dr. Weber is an active researcher in the field of bone health. He is especially interested in understanding how to optimize bone health imaging and treatments in clinical practice. He has published >50 papers in the bone health field covering topics like pediatric densitometry, the use of bisphosphonates in children, and nutritional interventions to improve bone accrual. As the Research Director of the Nutrition and Growth Lab at CHOP, he also works closely with investigators across CHOP and PENN to incorporate state-of-the-art bone health assessments into their research projects.

When not at work, Dr. Weber can be found trail-running, fly-fishing and otherwise enjoying the great outdoors of the Northeast with his family.

Dr. Hankenson is an American Society for Bone and Mineral Research (ASBMR) Young Investigator award winner (2002), received a John Haddad Fellowship from the ASBMR (2003), and in 2008 was the first veterinarian awarded the Fuller Albright award by the ASBMR (and the only veterinarian to date to receive this award).

He is a former member of the NIH Skeletal Biology Structure and Regeneration (SBSR) study section, served as a member of the Scientific Medical Advisory Council (SMAC) for the Canadian Arthritis Network (CAN), the Research Advisory Council (RAC) for the Grayson Jockey Club, and as permanent member of the Veterans Affairs Medical Council Endocrinology B (EndoB) study section. He currently is Chair of the Med9 study section for Research Foundation Flanders (FWO). He is former Editor in Chief for Clinical Reviews in Bone and Mineral Metabolism and is an Associate Editor for Connective Tissue Research. He is an Editorial Board member of the Journal of Orthopaedic Research and the Journal of Experimental Orthopaedics. He was previously an Editorial Board member for the Journal of Bone and Mineral Research. He is the past-President of Advances in Mineral Metabolism (AIMM) and a prior member of the ASBMR Council. He served on the Orthopaedic Research Society (ORS) board of directors as Membership Chair; is a past-Treasurer of the ORS-International Section for Fracture Repair and was the founder and inaugural Chair of the ORS-Preclinical Models Section. He is also a past-member of the Research and Administration Advisory Committee for the Bone and Joint Institute, Western Ontario University and is a past-Chair of the North American Veterinary Regenerative Medicine Association. He is currently the immediate past-president of the ORS, the largest musculoskeletal research society in the world.

Programmatically, Dr. Hankenson’s laboratory studies stem cell osteoblast differentiation. His research is highly collaborative and is focused on translating novel basic research findings to clinically applicable therapies to heal and restore lost bone. Dr. Hankenson has published over 145 peer-reviewed manuscripts. He has been the recipient of numerous extramural grants as both PI and co-investigator (NIH, DoD, and DOE), receiving over $40 million dollars in extramural funding since 2002. He has submitted two US patents related to therapies to accelerate bone formation and repair, including a startup company, Skelegen LLC, focused on delivery of Jagged-1 ligand to repair bone.

In his free-time Dr. Hankenson enjoys spending time with his family and friends, particularly his wife, Claire, and son, Hugh. He is an avid reader, biker and runner and is passionate about live music and food.

Dr. Andrew Jheon is an associate professor in the Department of Orthodontic and Dentofacial Orthopedics at the University of Pittsburgh. Dr. Jheon received his Ph.D. in biochemistry and D.D.S. from the University of Toronto. He completed his postdoctoral fellowship and orthodontic residency, and was a tenured associate professor at the University of California San Francisco (UCSF) before his move to the University of Pittsburgh. While working on his Ph.D., he discovered a novel gene named AJ18/Znf354c that plays a role in bone development. At UCSF, he studied the role of neural crest cells on craniofacial development by transplanting quail cells into ducks to produce “qucks” and was the first to generate an adult mouse model with inducible ectopic enamel, the hard outer covering of teeth. To date, Dr. Jheon has published more than 45 articles in various scientific journals and has received numerous national/international awards and grants for his research. He is also a dedicated clinician as a diplomate of the American Board of Orthodontics (ABO) and member of the American Association of Orthodontics (AAO).

Dr. Yangjin Bae is a skeletal biologist and an assistant professor in Molecular and Human Genetics Department in Baylor College of Medicine. Her research contributions reflect a commitment to understanding the complexities of skeletal biology and pathophysiology. Her work spans from molecular biology to gene regulation, with a significant focus on the transcriptional and post-transcriptional mechanisms that govern bone formation and homeostasis. Her discovery of miRNA-34c's role in osteoblast differentiation and its impact on Notch signaling has been well-illustrated in the regulation of bone formation and osteosarcoma progression. Also, her collaborative work on Jag1 in breast cancer bone metastasis has exhibited potential as a therapeutic target for breast cancer. Dr. Bae's ongoing research on the role of JAG1 in bone regeneration by regulating the skeletal stem cells holds promise for skeletal health and treatment strategies for fracture repairs.

Meanwhile Notch signaling is one of her favorite molecules, Dr. Bae’s has been expanding her research on the post-translational modification of proteins, particularly UFMylation is shedding light on the intricate processes that maintain cartilage health and contribute to rare skeletal dysplasia (Shohat -Type SEMD, or Spondyloepimetaphyseal Dysplasia) and an age-related degenerative disorder such as osteoarthritis. Currently, she plays a role as a team scientist in Restoring Joint Health and Function to Reduce Pain (RE-JOIN) supported by NIH HEAL Initiative. She is working together to map the network of sensory nerves connecting the knee joint using cutting-edge technology. This interdisciplinary research will expand our understanding of pain signaling in joints and treat joint pain associated with various diseases and aging. Beyond her research, Dr. Bae continues to mentor young female scientists through KWiSE (Korean-American Women in Science & Engineering) and Ewha Womens University, her alma mater, and trainees in skeletal field in TMC (Texas Medical Center) through T-Bone Seminar.

When she is not in the lab, she likes to explore Houston’s diverse culinary scene and enjoys playing flute

Dr. Schulert is an Associate Professor of Pediatrics in the Division of Rheumatology, Cincinnati Children’s Hospital Medical Center (CCHMC) and the Department of Pediatrics, University of Cincinnati College of Medicine. He received his MD and PhD from the University of Iowa Carver College of Medicine, with his doctoral research completed in the laboratory of Professor Lee-Ann Allen in the Iowa Inflammation Program. He then served as intern, resident, and chief resident in pediatrics at Vanderbilt Children’s Hospital before completing his fellowship in pediatric rheumatology at CCHMC’s. His research focuses on the pathogenesis of severe inflammatory diseases of childhood, in particular systemic juvenile idiopathic arthritis (SJIA), macrophage activation syndrome, and SJIA-associated lung disease. Dr. Schulert currently holds an NIAMS/NIH R01 to study mechanisms of SJIA-LD, along with funding from the Cincinnati Children’s Research Foundation, and the Childhood Arthritis and Rheumatology Research Alliance (CARRA). He is the director of the NIAMS P30 supported Pediatric Rheumatology Tissue Repository (PRTR) at CCHMC, and the Director of the Biobanks for CARRA. His clinical interests include undiagnosed and refractory SJIA and autoinflammatory disorders, and he serves as co-director of the Autoinflammatory Diseases Treatment and Research Center at CCHMC.

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.

Shambhavi (Shamy) is an adult ALGS warrior living in India, and is a Director with the Alagille Syndrome Alliance. She is focussed on raising awareness about the adult experience of living with ALGS, and the impact of ALGS on patients’ mental health. Professionally, Shambhavi is a lawyer who consults with organisations in India on projects involving health technology law and policy.