About Us

Supporting Families, Advancing Research

The HNRNP Family Foundation is the umbrella organization uniting families affected by all HNRNP-related neurodevelopmental disorders - providing support, resources, and driving research toward better understanding and treatments.

Our Story Meet the Team

An Umbrella Organization

Bringing together families across all HNRNP-related disorders.

The HNRNP Family Foundation was founded by parents who understood firsthand the isolation and confusion that comes with a rare genetic diagnosis. When no resources existed for families like ours, we decided to create them.

Unlike disorder-specific organizations, we serve as an umbrella foundation for all HNRNP-related neurodevelopmental disorders—including HNRNPU, HNRNPK (Au-Kline Syndrome), HNRNPH1, HNRNPH2, HNRNPR, and others. This unified approach allows us to:

Connect families across the entire HNRNP spectrum who share similar experiences
Pool resources for more impactful research funding
Facilitate collaboration among researchers studying different HNRNP genes
Advocate with a stronger, unified voice for the rare disease community

Our foundation bridges the gap between families and the scientific community, ensuring that the voices and experiences of those living with these conditions inform and accelerate research efforts.

The Connection

The HNRNP Family of Disorders

These conditions share similarities because the genes work together. We've color-coded them to show which are most closely related.

HNRNPGene Family

HNRNPC PTBP1 RBMX HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU SYNCRIP

Candidate Disorders

These disorders are currently being researched for potential inclusion in the HNRNP-RNDD family.

HNRNPDHNRNPDLHNRNPLHNRNPUL1HNRNPUL2PCBP1

Good to Know

Why group them together?

These proteins work together inside cells, share similar structures, and can even compensate for each other. This means research breakthroughs for one condition may help others in the family.

What We Do

Our work spans family support, community building, and research advancement.

Family Support

We welcome newly diagnosed families, connect them with others who understand their journey, and provide resources to help navigate life with a rare diagnosis.

Community Building

Through our online communities, annual conferences, and regional meetups, we create spaces where families can share experiences, find support, and build lasting connections.

Research Advancement

We fund research grants, maintain a patient registry, run natural history studies, and facilitate connections between families and researchers worldwide.

Leadership

Executive Board of Directors

Meet the dedicated individuals leading our organization. Our board members bring personal experience and professional expertise to advance our mission.

Interested in joining our Board?

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Leila Margolis

Board President

Leila is one of our founders. Her son, Sidney, is diagnosed with SYNCRIP/HNRNPQ-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

Board Treasurer

Susan is one of our founders and our treasurer. Her older son, August (Gus), has HNRNPU-Related Neurodevelopmental Disorder. Her younger son, Leo, is neurotypical and an emerging rare disease advocate. In addition to being a member of our community, Susan has two decades of experience in the life sciences and is a seasoned biotechnology leader. Dr. Susan Altschuller is a seasoned biotechnology executive with over two decades of experience in the life sciences. She currently serves as Chief Financial Officer of Climb Bio, a clinical-stage biotechnology company developing therapeutics for patients with immune-mediated diseases. Previously, she served as Chief Financial Officer of Cerevel Therapeutics, a company focused on central nervous system disorders, until its acquisition by AbbVie in 2024, and of ImmunoGen, where she supported the commercial launch of an antibody-drug conjugate for ovarian cancer. Earlier in her career, she held senior roles at the rare disease-focused company Alexion, where she led Investor Relations and later Enterprise Finance, as well as at Biogen and Bioverativ, the hemophilia spin-off from Biogen. She began her career as a consultant with the Frankel Group. Dr. Altschuller holds 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 Boards of Vestaron and Refeyn and is a founding Board member of the HNRNP Family Foundation.

Amanda Reuther

Community Relations

Amanda serves as a committed board member for the HNRNP Family Foundation, drawing inspiration from her personal journey as a parent. In 2016, after a four-year search for answers, Amanda's daughter Paeyton was diagnosed with HNRNPU-Related Neurodevelopmental Disorder, propelling Amanda into the realm of rare disease advocacy. Amanda has been a successful business owner in San Diego, CA since 2005. Her passion for advocacy led her to complete the Special Education Law and Advocacy Series, earning certification from the University of San Diego School of Law in 2021. Currently, Amanda holds the position of board President for the Special Education Parent Council for Encinitas Union School District. Recognizing the power of connectivity, Amanda leverages social media to establish the HNRNP-RNDDs Caregiver Connect support group, fostering a global community for individuals navigating the challenges of the HNRNP Related Neurodevelopmental Disorders. Amanda firmly believes in the significance of forging connections within the rare disease space.

Our Team

Board Members

Dedicated community members who bring diverse perspectives and expertise to support our mission and serve families affected by HNRNP-RNDDs.

Kearni Achors

Board Member

Kearni Achors has a degree in Community Health Education with experience in needs assessment, creating/evaluating programs, data analysis, advocating for policies, and community outreach. She is also mom to Kallam, who has an HNRNPK-RNDD (Au-Kline Syndrome) diagnosis. Kearni joined the board to connect with doctors and researchers with in-depth knowledge of his condition, as well as other families experiencing similar situations. As a parent navigating the medical systems, she brings her perspective rooted in lived experiences and understanding of the needs and challenges families face. Serving on the board allows her to give back to this community, help strengthen resources for families, and advocate for programs that foster accessibility and innovation.

Lesley Ash, DVM

Board Member

Dr. Lesley Ash is a small animal emergency veterinarian. Her son, River, is diagnosed with HNRNPU-Related Neurodevelopmental Disorder. She attended her first HNRNP Family Foundation Meeting in 2024 shortly after her son's diagnosis. She immediately felt a sense of community and joined the board to become more involved. Dr. Ash currently works in clinical practice as an emergency veterinarian, with a special interest in metabolic and neurologic emergencies in dogs and cats. As an undergraduate at the University of Arizona, she participated in research evaluating neuroplasticity in honey bees and memory formation and consolidation in rats. Dr. Ash then obtained her DVM from Tufts University. She hopes to use her medical background to support and advocate for the HNRNP community.

Lori Ligorio

Board Member

Lori is an advocate for families affected by rare neurological disorders, inspired by her journey to secure a diagnosis for her son, Donny, who lives with HNRNPU-Related Neurodevelopmental Disorder. With over 30 years of leadership experience in finance and small business, she brings strategic expertise to the HNRNP Family Foundation Board. She aims to leverage this extensive background to help amplify the voices of those affected, drive awareness, promote research, and support for innovative treatments. Lori is passionate about fostering collaboration among researchers, healthcare professionals, and families, believing that such efforts can catalyze meaningful advancements to improve the lives of individuals living with HNRNP-Related Neurodevelopmental Disorders. She envisions that, one day, these collective efforts will lead to the development of pioneering approaches that resonate across the rare disease space.

Scientific Leadership

Scientific & Medical Advisory Board

World-class researchers and clinicians guiding our scientific efforts and ensuring our work is grounded in the latest research.

Maddie Gillentine, PhD

Scientific Director

Dr. Maddie Gillentine, PhD is the Research Director of the HNRNP Family Foundation. 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

Associate Professor in child neurology at Columbia University Medical Center

Dr. Jennifer Bain, MD, PhD, is an associate 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

Associate Research Scientist at Columbia University Irving Medical Center

Dr. Christopher Ricupero, PhD is an assistant professor and Neuroscientist at Columbia University Irving Medical Center in New York City. Dr. Ricupero’s Rare Diseases & Disorders laboratory investigates neurogenetic diseases and disorders that can have profound effects on neurodevelopment and quality of life. Specifically, his group focuses on neuronal modeling, therapeutic development, and biomarker investigation. He collaborates closely with Dr. Jennifer Bain, Dr. Barbara Corneo (Director-Columbia Stem Cell Core), and Dr. Maddie Gillentine, and has been leading the development of a cellular HNRNP-RNDD patient cell biorepository for the research community in collaboration with The HNRNP Family Foundation and The Yellow Brick Road Project. This biobank will facilitate HNRNP-RNDD disease modeling in a dish and biomarker discovery using patient stem cells and neurons. Dr. Ricupero is a Scientific Advisory Board member of: HNRNP Family Foundation, Better Future 4 U patient advocacy organization (HNRNPU-RNDD), COMBINEDBrain - The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders and scientific advisor to the Robbins Family Charitable Foundation (HNRNPU-RNDD focused). He is also a member of the Consortium on Neurodevelopmental Studies of Autism Spectrum and Related Disorders and Associate Director at the Center for Dental and Craniofacial Research at Columbia University.

Dr. Meena Balasubramanian MBBS, DCH, DRCOG, MD

Senior Clinical Lecturer, Department of Oncology & Metabolism, University of Sheffield

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.

Billie (Ping-Yee) Au, MD, PhD

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.

Partnerships

Our Partners & Collaborators

We're proud to work alongside these organizations advancing rare disease research and support for families worldwide.

Simons Searchlight

Simons Searchlight is a program through the Simons Foundation. Currently, HNRNPH2, HNRNPQ/SYNCRIP, and HNRNPU are Simons Searchlight genes!

The Yellow Brick Road Project

A charitable foundation whose mission is to fund research to identify, understand, treat, and ultimately cure those impacted by HNRNPH2 mutations.

Global Genes

A 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally.

Combined Brain

A non-profit consortium led by patient advocacy foundations, working with clinicians, researchers and pharmaceutical firms developing treatments.

Rare Epilepsy Network (REN)

A volunteer network that welcomes all rare epilepsy organizations to come together around research efforts to improve lives.

Rare and Ready Coalition

Brings together patients with rare and genetic conditions and offers connections with clinicians, researchers, and other helpful resources.

UPenn Orphan Disease Center

Helping with our iPSC storage and distribution, and driving therapeutic development for rare diseases through their JumpStart program.

CURE Epilepsy

The leading nonprofit epilepsy research organization investing in unmet research needs and groundbreaking advances that will lead to a cure.

Join Our Mission

Whether you're a family seeking support, a researcher looking to collaborate, or someone who wants to make a difference—we'd love to hear from you.

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