Neurogenetics, Clinical Research, and Neurological Disorders
Appointed in September 2024, Dr. Rotem Or Bach (Orbach) is a Staff Clinician in the Neuromuscular & Neurogenetic Diseases of Childhood Section, of the Neurogenetics Branch (NGB). Dr. Orbach graduated from Tel Aviv University School of Medicine, where she obtained her B.Med.Sc and M.D. degrees. Dr. Orbach completed an Internship (2011-2012), Pediatric Residency (2013-2017), and Pediatric Neurology and Child Development Medicine training (2017-2021) at Dana Dwek Children's Hospital, Tel Aviv. She earned a diploma in Genomics and Biomedical Informatics from Bar-Ilan University in Israel. Between 2019 and 2021, she held a faculty position as a lecturer at Tel Aviv University. Dr. Orbach subsequently completed the Johns Hopkins-NINDS joint clinical research fellowship in Neuromuscular Neurogenetic Disorders (2021-2024). In 2024, Dr. Orbach joined the Neuromuscular and Neurogenetic Disorders of Childhood Section/NINDS/NIH as a Staff Clinician, where she sees undiagnosed patients with congenital onset neuromuscular conditions and follows children diagnosed with rare neuromuscular disorders, as well as patients enrolled in the section's active clinical trials.
Research Interests:
Dr. Orbach's research focuses on early-onset neuromuscular disorders, including clinical phenotyping, genetic aspects, and molecular pathogenesis. She is an associate investigator on the NNDCS intrathecal AAV9 mediated gene transfer clinical trial for giant axonal neuropathy and is actively involved in developing additional gene therapy trials for rare genetic neuromuscular diseases. Another significant aspect of her research involves utilizing muscle imaging as an objective tool to evaluate the severity and progression of neuromuscular diseases for clinical trial readiness, including the use of innovative imaging technology, multispectral optoacoustic tomography (MSOT), for congenital muscular dystrophies and other conditions affecting muscle health.
Selected publications
Hinkley L, Orbach R, Park J, Alvarez R, Dziewczapolski G, Bönnemann CG, Foley AR. An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies. J Neuromuscul Dis. 2024 Aug 22. doi: 10.3233/JND-240048. Epub ahead of print. PMID: 39177609.
Maio N*, Orbach R*, Zaharieva IT*, Töpf A, Donkervoort S, Munot P, Mueller J, Willis T, Verma S, Peric S, Krishnakumar D, Sudhakar S, Foley AR, Silverstein S, Douglas G, Pais L, DiTroia S, Grunseich C, Hu Y, Sewry C, Sarkozy A, Straub V, Muntoni F, Rouault TA, Bönnemann CG. CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes. J Clin Invest. 2024 Jun 17;134(12):e179559. doi: 10.1172/JCI179559. PMCID: PMC11178529.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. PMID: 38569017.
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M, Bönnemann CG, Nazlı Başak A, Hornemann T, Zuchner S. Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2023 Nov 24;. doi: 10.1136/jnnp-2023-332130. [Epub ahead of print] PubMed PMID: 38041684.
Orbach R, Sagi L, Sadot E, Tokatly Latzer I, Shtamler A, Zisberg T, Fattal-Valevski A. Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy. Muscle Nerve. 2022 Dec;66(6):762-766. doi: 10.1002/mus.27731. Epub 2022 Oct 19. PMID: 36214191; PMCID: PMC9828332.
Tokatly Latzer I, Sagi L, Bali DS, Rehder C, Orbach R, Fattal-Valevski A. Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene. Neuropediatrics. 2021. doi: 10.1055/s-0040-1722680. Epub ahead of print. PMID: 33578445.
Tokatly Latzer I, Orbach R, Ben-Sira L, Mezad-Koursh D, Bachar Zipori A, Roth J, Constantini S, Fattal-Valevski A, Lubetzky R. The Clinical Utility of Inpatient Brain Magnetic Resonance Imaging in Children. J Child Neurol. 2020;35(11):744-752.
Bisker Kassif O, Orbach R, Rimon A, Scolnik D, Glatstein M. Acute disseminated encephalomyelitis in children - clinical and MRI decision making in the emergency department. Am J Emerg Med. 2019 Nov;37(11): 2004-2007.
Mitelpunkt A, Kramer U, Hausman Kedem M, Zilbershot Fink E, Orbach R, Chernuha V, Fattal-Valevski A, Deutsch L, Heffetz D, Sacks H. The safety, tolerability, and effectiveness of PTL-101, an oral cannabidiol formulation, in pediatric intractable epilepsy: A phase II, open-label, single-center study. Epilepsy Behav. 2019;98(Pt A):233-7.
Orbach R, Schneebaum Sender N, Lubetzky R, Fattal-Valevski A. Increased Intracranial Pressure in Acute Disseminated Encephalomyelitis. J Child Neurol. 2019; 34(2):99-103.
Orbach R, Gurevich M, Achiron A. Interleukin-12p40 in the spinal fluid as a biomarker for clinically isolated syndrome. Mult Scler. 2014; 20(1):35–42.
Orbach R, Zhao Z, Wang YC, O'Neill G, Cadavid D. Comparison of disease activity in SPMS and PPMS in the context of multicenter clinical trials. PLoS One. 2012; 7(10):e45409.