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Our team is dedicated to help those with LAL-D

LAL-D Aware Moderator, Brett Billmeyer
Moderator

Brett Billmeyer

I have been diagnosed with LAL Deficiency in 2009. I have been participating in the Sebelipase Alfa clinical trial since 2011. I am always willing to share my experience with LAL Deficiency and the clinical trial. Do not hesitate to contact me with questions.

I have been diagnosed with LAL Deficiency in 2009. I have been participating in the Sebelipase Alfa clinical trial since 2011. I am always willing to share my experience with LAL Deficiency and the clinical trial. Do not hesitate to contact me at Brett.billmeyer@gmail.com with questions.
Dr. Anthony Porto
Medical Advisor

Dr. Anthony Porto

Anthony is a board-certified pediatrician and board-certified pediatric gastroenterologist. He is an Associate Professor of Pediatrics, Associate Chief of Pediatric Gastroenterology at Yale University, and Vice Chair of Ambulatory Operations in the Department of Pediatrics. He also serves as the Medical Director of Ambulatory Operations for YNHCH and Pediatrics for YNHCH at Greenwich Hospital. He is also the medical director of the Yale Pediatric Celiac Program.

Anthony is a board-certified pediatrician and board-certified pediatric gastroenterologist. He is an Associate Professor of Pediatrics, Associate Chief of Pediatric Gastroenterology at Yale University, and Vice Chair of Ambulatory Operations in the Department of Pediatrics. He also serves as the Medical Director, Ambulatory Operations for YNHCH, and Pediatrics for YNHCH at Greenwich Hospital. He is also the medical director of the Yale Pediatric Celiac Program. He sees patients in Greenwich, Norwalk, and New Haven, CT. He has won numerous awards including the Norman J. Siegel Award at Yale University in 2015 for leadership and providing outstanding clinical care as well as Physician of the Year during his time at Morgan Stanley Children’s Hospital. He has been named Castle Connolly Top Doctors since 2012.

Anthony is interested in nutrition, especially in the care of children with difficulty gaining weight, feeding issues, and celiac disease.

He co-authors the Pediatrician's Guide to Feeding Babies and Toddlers. He writes web-based education materials as a member of the Public Education committee of the North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition and for the American Academy of Pediatrics Healthy Children website.

He graduated from Columbia University with a Bachelor of Arts in Neuroscience and Behavior and attended medical school at Tufts University School of Medicine where he also received his master of public health. He completed his pediatric residency at the Children’s Hospital at Montefiore Medical Center and his pediatric gastroenterology fellowship at the Morgan Stanley Children’s Hospital of New York at Columbia University.

Dr. Gregory Grabowski
Medical Advisor

Dr. Gregory Grabowski

Dr. Grabowski received his M.D. from the University of Minnesota, where he also completed his Pediatric residency and fellowship training in Human Genetics. After 13 years at Mount Sinai School of Medicine in New York, where he established the MSSM Lysosomal Disease Center, he moved to Cincinnati, where he was the A. Graeme Mitchell Chair of Human Genetics and Director of the Division of Human Genetics within the Children’s Hospital Research Foundation (CHRF).

Dr. Grabowski received his M.D. from the University of Minnesota where he also completed his Pediatric residency and fellowship training in Human Genetics. After 13 years at Mount Sinai School of Medicine in New York, where he established the MSSM Lysosomal Disease Center, he moved to Cincinnati, where he was the A. Graeme Mitchell Chair of Human Genetics and Director of the Division of Human Genetics within the Children’s Hospital Research Foundation (CHRF).

He is Professor Emeritus in the Departments of Pediatrics and Molecular Genetics, Biochemistry, and Microbiology at the University of Cincinnati College of Medicine. He has published over 355 scholarly works on the basic and clinical science of lysosomal diseases, including Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidoses, and lysosomal acid lipase deficiencies. His was the founding Chair of the American Expert Medical Committee of the Project Hope/Genzyme-Sanofi Gaucher Initiative, a philanthropic program to treat Gaucher disease in Egypt and other countries. He has served on this committee for over 30 years. He was the Chief Scientific Officer (CSO) at Synageva from January 2014 to June 2015 and was in charge of developing many programs and platforms before Alexion purchased the company. He became the CSO at Kiniksa Pharmaceuticals until June 2019. Currently, he is an independent consultant to several companies and foundations developing therapies for the unmet needs of those with rare diseases.

Krista Smith Board Member
Board Member

Christa Smith

Christa Smith is a parent to Ella, who was diagnosed with LAL-D in 2019. She is a speech therapist in a public school and resides in Amherst, Massachusetts. Christa’s mission is to unite families affected by LAL-D worldwide so that patients can support each other and have the best possible outcomes.

Christa Smith is a parent to Ella, who was diagnosed with LAL-D in 2019. She is a speech therapist in a public school and resides in Amherst, Massachusetts. Christa’s mission is to unite families affected by LAL-D worldwide so that patients can support each other and have the best possible outcomes. Please contact me at smithac1973@gmail.com for any inquiries or questions.
Dr. Paul Martin
Medical Advisor

Dr. Paul Martin

Paul T. Martin, PhD, is a Principal Investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital. He is a Professor of Pediatrics and Professor, of Physiology, and Cell Biology at The Ohio State University College of Medicine. He is also Associate Director of the NIH Center of Research Translation in Muscular Dystrophy Therapeutic Develpment at Nationwide Children’s Hospital.

Paul T. Martin, PhD, is a Principal Investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital. He is a Professor of Pediatrics and Professor, of Physiology, and Cell Biology at The Ohio State University College of Medicine. He is also Associate Director of the NIH Center of Research Translation in Muscular Dystrophy Therapeutic Develpment at Nationwide Children’s Hospital.

Dr. Martin’s NIH-funded research program focuses on defining functional roles for cell surface carbohydrates in neuromuscular development and disease. Dr. Martin’s lab has identified particular carbohydrates that, when overexpressed in muscle cells, can prevent muscular dystrophy from occurring in several forms of the disease. Current work is focused on translating these findings into therapies that patients with these disorders can use. Additional work focuses on developing novel protein and gene therapies for congenital forms of muscular dystrophy.

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