Milen T. Velinov, MD, PhD

I am a Professor of Pediatrics and Genetics and The Director of the Division of Genetics at the Department of Pediatrics, Rutgers Robert Wood Johnson Medical School. I have been a practicing physician since 1995. After receiving my MD and PhD training at the Sofia Medical University, I have pursued a postdoctoral fellowship in molecular genetics at the University of Connecticut Medical Center in Farmington.  After that I did my residency training in Pediatrics at the New York Presbyterian Methodist Hospital and my Genetics fellowship at Maimonides Hospital in Brooklyn and Mount Sinai Medical Center in Manhattan). I have been an active researcher, largely focused on studying the molecular basis and management of genetic disorders. My previous research helped identify the genes for Achondroplasia, Autosomal-Dominant Neuronal Ceroid Lipofuscinosis (ADNCL), and DOCK3 associated disorder.

• Using genomic technology for the early diagnosis and treatment of genetic disorders with emphasis on advanced protocols for Newborn Screening and Rapid Whole Genome Sequencing for sick infants.  
• Developing advanced treatments for genetic conditions, with emphasis on:  Fragile X syndrome and Autosomal-Dominant Neuronal Ceroid lipofuscinosis.
• Development of Specialized rare disease registries and clinics, with emphasis on Fragile X syndrome, DOCK3 disorder and DEAF1 associated disorders

• My lab at the Institute for Basic Research in Developmental Disabilities reported the first preclinical study for peripheral administration of AAV-FMR1 construct, using a mouse model of Fragile X syndrome. We collaborate with the lab of Dr. Renping Zhou who leads a Health Advance – funded follow up study to explore gene therapy for Fragile X syndrome using regulable promoter for better adjustment of the level of the protein product deficient in Fragile X syndrome. 
• In collaboration with the Foundation n-Lorem we are developing the first ASO based approach to treat Autosomal Dominant Neuronal Ceroid Lipofuscinosis. For this research I receive funding from the New Jersey Health Foundation and the Batten Disease Support and Research Association.
• We are the only site In New Jersey that carries Genome Sequencing - based newborn screening pilot study, led by Rady Children’s Hospital. The study screens all newborns with consenting parents for over 400 early-onset and treatable disorders.     

• Chadman KK, Adayev T, Udayan A, Ahmed R, Dai CL, Goodman JH, Meeker H, Dolzhanskaya N, Velinov M. Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome. Genes (Basel). 2023 Feb 16;14(2):505. doi: 10.3390/genes14020505. PMID: 36833432; PMCID: PMC9957373.
• Velinov M. Gene Therapy for Fragile X Syndrome, Challenges, and Promises. J Gene Med. 2025 Nov;27(11):e70049. doi: 10.1002/jgm.70049. PMID: 41207793; PMCID: PMC12597487.
• Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. Erratum in: PLoS One. 2012;7(9). doi:10.1371/annotation/26d7eb64-ccd2-41db-b1aa-7cdc8c1eff95. PMID: 22235333; PMCID: PMC3250487.
• Naseri NN, Ergel B, Kharel P, Na Y, Huang Q, Huang R, Dolzhanskaya N, Burré J, Velinov MT, Sharma M. Aggregation of mutant cysteine string protein-α via Fe-S cluster binding is mitigated by iron chelators. Nat Struct Mol Biol. 2020 Feb;27(2):192-201. doi: 10.1038/s41594-020-0375-y. Epub 2020 Feb 10. PMID: 32042150; PMCID: PMC7021000.
• Helbig KL, Mroske C, Moorthy D, Sajan SA, Velinov M. Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. Clin Genet. 2017 Oct;92(4):430-433. doi: 10.1111/cge.12995. Epub 2017 Mar 30. Erratum in: Clin Genet. 2018 May;93(5):1117. doi: 10.1111/cge.13212. PMID: 28195318.