Board of Directors
Leila is one of our founders. Her son, Sidney, is diagnosed with SYNCRIP-Related Neurodevelopmental Disorder.
In another life, Leila earned her bachelor of science in sociology at Mt. Saint Mary's University in Los Angeles, CA. She has a background in women's studies, community engagement, and is a trained post partum doula. Leila and her family felt lost after Sidney was diagnosed. Her hope in starting this organization is not only to further research and treatment, but make sure no other HNRNP-RNDD family feels alone ever again.
Susan Altschuller, PhD, MBA
Susan is one of our founders and our treasurer. Her and her husband, Nick, have a son, Gus, who has HNRNPU-Related Neurodevelopmental Disorder.
Susan has two decades of financial management, investor relations, and business planning experience with leading pharmaceutical and biotechnology companies. She has served as Cerevel’s Chief Financial Officer since May 2023. Most recently, she served as the Chief Financial Officer of ImmunoGen, a biotechnology company developing the next generation of antibody-drug conjugates for cancer patients.
Before ImmunoGen, Dr. Altschuller worked at Alexion, where she was Head of Investor Relations and later, Head of Enterprise Finance. Prior to joining Alexion, Dr. Altschuller was Head of Investor Relations at Bioverativ, where she served as the primary interface with Wall Street and led all investor-related activities for the launch of the Biogen hemophilia spin-off. Early in her career, Dr. Altschuller held positions at Biogen in various functions of increasing responsibility, including investor relations, corporate finance, and commercial finance. She received a BSE in Biomedical Engineering with Honors from Tulane University, a Ph.D. in Biomedical Engineering from the Illinois Institute of Technology, and an MBA from the MIT Sloan School of Management. She serves as Audit Chair on the Board of Directors of Vestaron Corporation.
Scientific and Medical Advisory Board
Maddie Gillentine, PhD
Dr. Maddie Gillentine, PhD, is a Variant Scientist at Seattle Children’s Hospital in Seattle, Washington. She currently works with genetic data diagnosing pediatric patients. Dr. Gillentine did her postdoctoral work in the lab of Dr. Evan Eichler at University of Washington, where she analyzed large data sets of genomic data to identify novel genetic disorders, particularly those impacting gene families. This work was how she identified the larger group of HNRNP-Related Neurodevelopmental Disorders. She is also one of our founding board members!
Dr. Gillentine’s PhD work at Baylor College of Medicine in Houston, Texas was with induced pluripotent stem cell models of neurodevelopmental disorders. She also has two autistic brothers, which fueled her interest in neurodevelopmental disorder genetics.
Jennifer Bain, MD, PhD
Dr. Jennifer Bain, MD, PhD, is an assistant professor in child neurology at Columbia University Medical Center. Dr. Bain completed both M.D. and PhD. as well as general pediatrics residency at Rutgers – New Jersey Medical School. She trained in child neurology at New York Presbyterian – Columbia University Medical Center and is a board certified neurologist with special certification in Child Neurology. Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic ischemic encephalopathy. She currently works as a clinician at Columbia Doctors specializing in general pediatric neurology with expertise in development, behavioral neurology and autism. Her clinical research has focused on studying autonomic dysfunction in children with autism spectrum disorders as well as the gender disparity between girls and boys with an autism diagnosis. She is also very interested in the movement differences in children with autism. Dr. Bain authored a manuscript describing the first six girls with variants in the HNRNPH2 gene and is currently enrolling more individuals with HNRNP-Related Neurodevelopmental Disorders to learn more about the natural course of these neurodevelopmental disorders.
Christopher Ricupero, PhD
Dr. Christopher Ricupero, PhD, is an Associate Research Scientist at Columbia University Irving Medical Center in New York City. Dr. Ricupero received his PhD in Neuroscience and the central theme to his research is neurodevelopment. He has a special interest in rare neurological and neurogenetic disorders within the HNRNP family and is currently investigating the underlying mechanisms of HNRNPH2-related neurodevelopmental disorder using patient specific stem cells. He is also active in the development of therapeutics using gene targeting approaches. Dr. Ricupero is a member of Columbia University’s Stem Cell Initiative and the Consortium on Neurodevelopmental Studies of Autism Spectrum and Related Disorders.
Dr. Meena Balasubramanian MBBS, DCH, FRCPCH, MD
Senior Clinical Lecturer, Department of Oncology & Metabolism, University of Sheffield.
Consultant Clinical Geneticist; Lead Geneticist for the Highly specialised, severe, complex and atypical Osteogenesis Imperfecta national service
Dr. Balasubramanian is an academic clinical geneticist based in Sheffield, UK. In genomic medicine, Dr. Balasubramanian has several studies focused on genotype-phenotype correlation in newly identified genes. She has published over 115 principal-author publications and textbooks including a recent molecular medicine series on osteogenesis imperfecta. She has also edited and written several patient information leaflets on rare bone and genetic disorders for Unique and Brittle Bone Society.
Meena is a leading researcher into the gene, HNRNPU. Previously, Meena and her team published the largest clinical dataset on the gene. With the combined efforts of the team, they have discovered that those with HNRNPU-Related Neurodevelopmental Disorder are lacking enough of the protein in their gene. Her team at University of Sheffield are investigating whether adding more of the protein back into the gene will restore normal function to these cells. This will be a milestone achievement in the research teams aims to provide a ‘cure’ for the syndrome.
Her other roles include Research Director, North East and Yorkshire NHS Genomic Medicine Service Alliance; Bone fragility lead, Genomic Clinical Interpretation Partnership (GeCIP), part of 100,000 Genomes project initiative to establish genetic causes of rare diseases in UK. She is Secretary for Clinical Genetics Society and serves on the ‘Medical Advisory Board’ for Brittle Bone Society, SATB2 patient support group and Scientific Advisory Committee member for The Children’s Hospital Charity.
Clinical Assistant Professor, Department of Medical Genetics, Department of Pediatrics, University of Calgary
Dr. Billie Au's research has focused on identifying the underlying genetic etiology for novel syndromes, and the characterization of these syndromes. She is particularly interested in dysmorphic syndromes that involve intellectual disability, autism, epilepsy and other abnormal neurological phenotypes. She is interested in “reverse phenotyping,” i.e. how understanding disease-related genes within the context of their signaling and regulatory networks can inform our knowledge of clinical phenotype and subsequent management and therapy. She is also interested in how knowledge of genetic etiology can be used to improve management of patients in new ways, such as through identification of potential therapeutic targets in dysregulated cellular pathways. Her research applies new genomic technologies such as whole exome sequencing, but will hopefully also involve whole genome and transcriptome approaches in the future.
Dr. Au has authored multiple manuscripts describing individuals with variants in the HNRNPK gene, resulting in Au-Kline syndrome.
Billie (Ping-Yee) Au, MD, PhD