Milen Velinov, MD, PhD

I am a Professor of Pediatrics and Genetics at Rutgers Robert Wood Johnson Medical School and serve as Division Director of the Division of Genetics at the Department of Pediatrics. I received research training as a postdoctoral fellow at the University of Connecticut Health Center, and clinical training as a pediatrician and geneticist at the  New York Presbyterian Methodist Hospital, Maimonides Medical Center and Mount Sinai Medical Center in New York City. My research interest involves early diagnosis and development of targeted treatment for rare genetic disorders. I was the PI of a multi-site CDC sponsored study of the natural history of Fragile X syndrome, FORWARD. I am currently a site PI for the continuation of this CDC sponsored study FORWARD MARCH. I have also worked on developing AAV based gene therapy for Fragile X syndrome and am currently Co-Investigator of a New Jersey Health Fondation sponsored study on gene therapy for this disorder. I am also the PI of a project to develop targeted gene therapy for Autosomal Dominant Neuronal ceroid Lipofuscinosis. For this study I received funding from The New Jersey Health Foundation and the Batten Disease Support and Research Association. Finally, I am a site PI for a multi-national advanced newborn screening study using genome sequencing BeginNGS, led by the Rady Institute of Genomic Medicine.  My current research interest includes developing rare disease registries and advanced treatments for Fragile X syndrome, DOCK3, DEAF1 and DNAJC5 associated disorders. I have over 70 peer-reviewed publications reporting on the natural history and treatments for rare genetic disorders.      

Medical University 
Sofia, Bulgaria
Medical Degree (MD)                              1986

Sofia University St. Kliment Ohridski 
Sofia, Bulgaria
PhD in Biology            1995

POSTGRADUATE TRAINING:
Clinical Internship, Regional Hospital Samokov, Bulgaria (1986–1987)
Postdoctoral Fellow, Molecular Genetics Laboratory, University of Connecticut Health Center, Farmington CT (1991–1995)
Resident, Pediatrics, NY Methodist Hospital / New York Hospital–Cornell Medical Center (1995–1998)
Fellow, Clinical Genetics, Maimonides Medical Center / NYS Institute for Basic Research (1999–2003)
 

In my research work, I have three main objectives for the study of rare disorders:
A. To discover and develop a strategy for early diagnosis of rare disorders.
As part of this objective, my work helped discover three rare disorders: Achondroplasia (PMID: 8012397), Autosomal-Dominant Neuronal Ceroid Lipofuscinosis (PMID: 22235333), and DOCK3-related disorder (PMID: 28195318) As part of this goal, I am the Principal Investigator of the only New Jersey site for a Nationwide pilot program for DNA-based Newborn Screening, “Begin NGS”, led by Rady Children’s Hospital. This program screens for over 400 treatable, early-onset disorders in all newborns if their families consent to such testing. This and other pilot studies will likely lead to nationwide implementation of DNA-based newborn screening programs (PMID: 41898893, 41238356)
B. To elucidate the natural history of rare disorders and prepare for the development of clinical trials. Knowledge of the natural history of rare disorders is an important basis for developing outcome measures for clinical trials. As part of this objective, I was the PI for a multisite, nationwide, CDC-sponsored study on the natural history of Fragile X syndrome, the most common single-gene cause of autism and intellectual disability. This project was carried out under my leadership between 2015 and 2020, and resulted in multiple publications (PMID: 36441429, 35174658, 35148024, 35036394, 33066511). Currently, my group is developing registries for two other rare conditions, DOCK3-associated disorder ( PMID: 28195318, 37895289) and DEAF1-associated disorders (PMID: 41518091)
C. To develop new targeted treatments for rare disorders
While technological advances enable early diagnosis of many rare genetic conditions, targeted treatments are available for only a small fraction of these conditions (PMID: 41898893). The highest priority of my current research includes developing new targeted treatments for rare disorders. As part of this objective, I led a pilot study on gene therapy for fragile X syndrome following peripheral delivery of FMR1, the gene deficient in this condition (PMID: 36833432). I am a Co-Investigator in a follow-up study exploring the feasibility of a regulatable promoter for FMR1 delivery. This research is supported by a Health Advance grant: HA2024-0074 HealthAdvance®. "Treating Fragile X syndrome with an inducible gene therapy vector". Also, as part of this objective, I have collaborated with the Foundation n-Lorem (https://www.nlorem.org/) to develop a targeted treatment for one patient with an ultra-rare disorder. For this study, I received a grant from the New Jersey Health Foundation: Grant # PC 278-26 “An Open-Label, Single-Center Study of Experimental Antisense Oligonucleotide Treatment for DNAJC5 Mutation Associated with Kufs Disease.” This project involves an ASO-mediated treatment. The final aim of this objective is to establish a gene therapy center at Rutgers Medical School using this strategy.
 

1. Katz, Kylie, Jensik, Philip, Velinov, Milen; The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent ; American journal of medical genetics. Part A, 2026

2. Reimers, Rebecca, Bailey, Miranda, Brown, Chester, Chan, Kee, Defay, Tom, Finkel, Terri, Kahn, Scott, Protopsaltis, Liana, Stoddard, Lauren, Talati, Ajay J, Wigby, Kristen, Akil, Ammira Sarah Al-Shabeeb, Wright, Meredith, Kingsmore, Stephen F; Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome ; BMJ open, e098609, 2025

3. Velinov, Milen; Gene Therapy for Fragile X Syndrome, Challenges, and Promises.; The journal of gene medicine, e70049, 2025

4. Kaufmann, Walter E, Horn, Paul S, Budimirovic, Dejan B, Harris, Holly K, Lozano, Reymundo; Relationship Between Intellectual Disability and Behavioral Comorbidity in ; Journal of autism and developmental disorders, 2025

5. Anderson, Sharon, Velinov, Milen; An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): ; Case reports in genetics, 6839348, 2025

6. Frye, Richard E, Cohen, Ira L, Sequeira, Jeffrey M, Hill, Zoe, Espinoza, Alina, Brown, W Ted, Mevs, Clifford, Marchi, Elaine, Flory, Michael, Jenkins, Edmund C, Velinov, Milen T, Quadros, Edward V; Transgenerational Effects and Heritability of Folate Receptor Alpha ; International journal of molecular sciences, 2025

7. Menello, Caitlin, Pressley, Shaney, Steffensen, Madeline, Schmidt, Sarah, Pedro, Helio, Jethva, Reena, Valdez-Gonzalez, Karen, Adams, Darius J, Gupta, Punita, King, Lorien Tambini, Velinov, Milen, Anderson, Sharon, Bizargity, Peyman, Pletcher, Beth, Tuite, Allysa, Kresge, Christina, Day-Salvatore, Debra Lynn, Kuehl, Ryan, Ficicioglu, Can; Newborn Screening for Gaucher Disease: The New Jersey Experience.; International journal of neonatal screening, 2025

8. Backal, Amy, Velinov, Milen, Garcia, Jazmin, Louis, Cassandra L; Novel, likely pathogenic variant in ATP7A associated with Menkes disease ; BMJ case reports, 2024

9. Anderson, Sharon, Ciarlariello, Molly, Botti, Christina, Velinov, Milen; Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a ; Cureus, e65956, 2024

10. Ye, George X, Ontiveros, Eric, Ivander, Axel, Velinov, Milen, Simotas, Christopher; Autosomal Recessive Infantile Hyaline Fibromatosis Identified Using Artificial; Cureus, e62037, 2024

11. Kaufmann, Walter E, Raspa, Melissa, Bann, Carla M, Gable, Julia M, Harris, Holly K, Budimirovic, Dejan B, Lozano, Reymundo; Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with ; Journal of autism and developmental disorders, 725-737, 2024

12. Alexander, Matthew S, Velinov, Milen; DOCK3-Associated Neurodevelopmental Disorder-Clinical Features and Molecular ; Genes, 2023

13. Chadman, Kathryn K, Adayev, Tatyana, Udayan, Aishwarya, Ahmed, Rida, Dai, Chun-Ling, Goodman, Jeffrey H, Meeker, Harry, Dolzhanskaya, Natalia, Velinov, Milen; Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct ; Genes, 2023

14. Choo, Tse-Hwei, Xu, Qing, Budimirovic, Dejan, Lozano, Reymundo, Esler, Amy N, Frye, Richard E, Andrews, Howard, Velinov, Milen; Height and BMI in fragile X syndrome: A longitudinal assessment.; Obesity (Silver Spring, Md.), 743-750, 2022

15. Meng, Lu, Kaufmann, Walter E, Frye, Richard E, Ong, Katherine, Kaminski, Jennifer W, Velinov, Milen, Berry-Kravis, Elizabeth; The association between mosaicism type and cognitive and behavioral functioning ; American journal of medical genetics. Part A, 858-866, 2022

16. Kleyner, Robert, Arif, Mohammad, Marchi, Elaine, Horowitz, Naomi, Haworth, Andrea, King, Brian, Gavin, Maureen, Amble, Karen, Velinov, Milen, Lyon, Gholson J; Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome; Cold Spring Harbor molecular case studies, 2022

17. Berry-Kravis, Elizabeth, Filipink, Robyn A, Frye, Richard E, Golla, Sailaja, Morris, Stephanie M, Andrews, Howard, Choo, Tse-Hwei, Kaufmann, Walter E; Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large ; Frontiers in pediatrics, 736255, 2021

18. Fyke, William, Velinov, Milen; FMR1 and Autism, an Intriguing Connection Revisited.; Genes, 2021

19. Fyke, William, Alarcon, Juan Marcos, Velinov, Milen, Chadman, Kathryn K; Pharmacological inhibition of the primary endocannabinoid producing enzyme, ; Autism research: official journal of the International Society for Autism , 1375-1389, 2021

20. Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M Jr, Sanchez-Lara, Pedro A, Campo, Miguel Del, Jones, Marilyn C, Abdul-Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary-Alice, Allain, Dawn C, Amlie-Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin-To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah K, Knight Johnson, Amy E, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell-Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, Falk, Marni J, Hakonarson, Hakon, Zackai, Elaine H, Quintero-Rivera, Fabiola; Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 ; American journal of medical genetics. Part A, 1649-1665, 2021

21. Fyke, William, Alarcon, Juan M, Velinov, Milen, Chadman, Kathryn K; Pharmacological inhibition of BKCa channels induces a specific social deficit in ; Behavioral neuroscience, 462-468, 2021

22. Naseri, Nima, Sharma, Manu, Velinov, Milen; Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and ; Clinical genetics, 111-118, 2021

23. Nwakalor, Chidinma, Said-Delgado, Sara, Krinshpun, Shifra, Velinov, Milen; De novo HRAS gene mutation associated with Costello syndrome identified by ; Prenatal diagnosis, 11-14, 2021
 

Fellow’s Clinical Research Award, Society for Pediatric Research (1994)
Resident Research Award, American Academy of Pediatrics (1997)
Inclusion in Guide to America’s Top Pediatricians (2005)
Research Award, Batten Disease Support and Research Association (2019)
Reviewers’ Choice Award, American Society of Human Genetics (2021)
Speaker award, Frontieres in Pediatric Genomic Medicine Conference, (2026)