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PROFILE

이은정 연구소장

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New therapeutic paradigm for blindness

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Blocking Prox1 accumulation in Müller glia (MG) induces reprogramming of these cells, leading toretinal regeneration and delaying vision loss in a retinitis pigmentosa mouse model. This study
suggests that targeting Prox1 in MG could potentially provide new therapeutic strategies for human retinal diseases

(주)셀리아즈

Education

2011-2018
Ph.D. in Developmental Neurobiology, Department of Biological Sciences, KAIST
(Advisor: Jin Woo Kim, Ph.D.)
2008-2010
M.S. in Molecular Biology, Department of Biology, Seoul Women’s University
(Advisor: Kyung-Hae Cho, Ph.D.)
2004-2008
B.S., Department of Biotechnology, Seoul Women’s University

Career & Experience

2024-Present
Head of Research, Celliaz Ltd.,
2022-2024
Research Assistant Professor, Department of Biological Sciences, KAIST
2018-2022
Post-doctoral Researcher, Department of Biological Sciences, KAIST
2010-2011
Research Scientist, Department of Biological Sciences, KAIST

PUBLICATIONS

Lee EJ*, Kim M*, … and Kim JW (2024). Restoration of retinal regenerative potential of Müller glia by disrupting intercellular Prox1 transfer. bioRxiv, doi: 10.1101/2024.04.23.590652. (under revision, Nat. Commun.)
Han JW, Chang HS, Yang JY, Choi HS, Park HS, Jun HO, Choi JH, Paik S-S, Chung KH, Shin HJ, Nam S, Son J-H, Lee SH, Lee EJ, Seo KY, Lyu J, Kim JW, Kim I-B & Park TK (2023) Intravitreal Administration of Retinal Organoids-Derived Exosomes Alleviates Photoreceptor Degeneration in Royal College of Surgeons Rats by Targeting the Mitogen-Activated Protein Kinase Pathway. Int. J. Mol. Sci. 24, 12068.
Park JW, Lee EJ, Moon E, Kim HL, Kim IB, Hodzic D, Kim N, Kweon HS, and Kim JW (2023) Orthodenticle homeobox 2 is transported to lysosomes by nuclear budding vesicles. Nat. Commun 14, 1111
Min KW, Kim N, Lee JH, Sung YH, Kim M, Lee EJ, Kim JM, Kim JH, Lee J, Cho W, Yang JM, Kim N, Kim J, Lee CJ, Lee SH, Lee HW, Kim JW (2023) Visuomotor anomalies in achiasmatic mice expressing a transfer-defective Vax1 mutant. Exp Mol Med, doi: 10.1038/s12276-023.
Updated July 10, 2024
2
You S, Kim H, Jung HY, Kim B, Lee EJ, Kim JW, Kim Y. (2020) Tuning surface functionalities of sub-10 nm-sized nanocarriers to target outer retina in designing drug delivery agents for intravitreal administration. Biomaterials 255:1 20188.
Lee EJ, Kim N, Park JW, Kang KH, Kim WI, Sim NS, Jeong CS, Blackshaw S, Vida M, Huh SO, Kim D, Lee JH, and Kim JW (2019) Global analysis of intercellular homeodomain protein transfer. Cell Rep 28: 712-722.
Choi JH, Jo HS, Lim S, Kim HT, Lee KW, Moon KH, Ha T, Kwak SS, Lee EJ, Joe CO, and Kim JW (2018) mTORC1 accelerates retinal development via the immunoproteasome. Nat. Commun 9, 2502.
Kim HT, Kim SJ, Sohn YI, Paik SS, Caplette R, Simonutti M, Moon K, Lee EJ, Min KW, Kim MJ, Lee DG, Simeone A, Lamonerie T, Furukawa T, Choi JS, Kweon HS, Picaud S, Kim IB, Shong M, Kim JW. (2015) Mitochondrial Protection by Exogenous Otx2 in Mouse Retinal Neurons. Cell Rep 13: 990 – 1002.
Kim NS, Min KW, Kang KH, Lee EJ, Kim HT, Moon K, Choi J, Le D, Lee SH, Kim JW. (2014) Regulation of retinal axon growth by secreted Vax1 homeodomain protein. eLife 3: e02671.
Bernard C, Kim HT, Ibad RT, Lee EJ, Simonutti M, Picaud S, Acampora D, Simeone A, Di Nardo AA, Prochiantz A, Moya KL, Kim JW. (2013) Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes. Hum Mol Gen, 23, 1742-1753.
Lee EJ, Kim N, Kang KH, Kim JW. (2011) Phosphorylation/inactivation of PTEN by Akt-independent PI3K signaling in retinal pigment epithelium. Biochem Biophys Res Commun 414, 384-9.

하니나 실장

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Research and Development Endeavors: Nonhydroxamic acid HDAC6 Inhibitor for the Treatment of Charcot-Marie-Tooth Disease

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This presentation focuses on the discovery process and identification of non-hydroxamic acid histone deacetylase 6 (HDAC6) inhibitor.
Their preclinical efficacy and potential clinical applications for the rare disease Charcot-Marie-Tooth (CMT) will be discussed.

(주)종근당 

Education

• Ph.D. Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, (Thesis advisor: Dr. Byung-Ok Choi) (2015-2020)
Ph.D. Dissertation, Novel Histone deacetylase 6 inhibitors improve myelination and axonal transport on Charcot-Marie-Tooth type 1A and type 2F
• M.S. Pharmacology, East-West Medical Science of Kyunghee University, Republic of Korea (Dr. Hocheol Kim) (2003-2005)
• B.S. Biomedical engineering, Kyunghee University, Republic of Korea (1999-2003)

Profile

• Biology and Pharmacology Scientist with over 19 years of experience in pharmaceutical industry.
• Experience in projects including immunology, metabolism, neurology, oncology from target identification and validation, and clinical development to Phase I/II trials
• Experience in managing a broad scientific program utilizing relevant in vitro and in vivo pharmacology
• Proven track record of in vivo pharmacology background in developing various preclinical disease animal models, designing preclinical efficacy studies, and evaluating PK/PD/efficacy correlations
• Proven track record in project development (5 INDs)

RESEARCH AND DRUG DISCOVERY CONTRIBUTIONS

CKD Research Institute (2007.10 – present)
• Director of Department of Pharmacology Group (2023~)
• Director of Department of Pharmacology I (2021~)
• Principal research scientist (2016-2020)
• Senior research scientist (2008-2015)
• Research scientist (2007- 2008)

Led multiple small molecule drug discovery projects, managed team and resources, and presented progress and issues

Pharmacology and Biology Director (2021 -),
Immunology/ Neurology/ Metabolic disease/ Oncology
• Responsibility for all pharmacological and biological research
(small molecule, gene therapy, antibody, ADC)
• Managed collaboration with clinical research team and BD team for new drug development and licensing out activity
 Out-license CKD-510 to Novartis
 CKD-510 for Charcot-Marie-Tooth disease/Atrial fibrillation, Phase2 planned
 CKD-506 for Idiopathic pulmonary disease/chronic obstructive pulmonary disease, intra-nasal, L/O ongoing
 CKD-504 for neurodegenerative disorders, Phase1
 CKD-703 (cMET-ADC) for non-small cell lung cancer, GLP study ongoing
 Oral GLP-1R agonist (small molecule) for type2 diabetes and obesity
 Undisclosed drug (small molecule) for tauopathy and Alzheimer’s disease
 Undisclosed drug (small molecule) for atopic dermatitis
 Undisclosed drug (small molecule) for hypertrophic scar/colloid
 Undisclosed drug (antibody, small molecule) for cachexia
 Undisclosed drugs (bispecific antibody) for immune-oncology
 Undisclosed drugs (ADC) for solid cancer
 Undisclosed drugs by Open-innovation

Project leader, HDAC6 (2010 - 2020),
Immunology/Pulmonary/Neurology
• Lead the HDAC6 project develop clinical candidates for various indications
• Pharmacology/ Biology team leader, understand mechanisms of action of HDAC6 and expand to various indications
 CKD-510 for Charcot-Marie-Tooth disease
 CKD-506 for Pulmonary diseases such as Chronic obstructive pulmonary disease and Idiopathic pulmonary disease
 CKD-506 for Autoimmune diseases such as Rheumatoid arthritis, Inflammatory bowel disease, Uveitis
 CKD-504 for Huntington’s disease and neurodegenerative disorders
 HDAC6 inhibitor for Multiple myeloma (2011~2012)
• Co-developed preclinical and clinical strategy
• Co-developed strategy to define PK/PD/efficacy relationship and optimal dosing regimens.
• Managed collaboration with extramural researches including CROs and academies.

Project Co-leader/Biology Lead, LOXL2/VAP1 (2018 - 2020),
Non alcoholic steatohepatitis
• Biology lead the LOXL2/VAP1 program
• Establish drug screening system of LOXL2/VAP1 program and evaluate in vitro and in vivo data
• Pharmacology/ Biology team leader, drive the lead optimization

Project Co-leader/Biology Lead, GPR119 (2009 – 2011, 2019 - 2020),
Type2 Diabetes Mellitus/Non alcoholic steatohepatitis
• Co-lead the GPR119 program
• Establish drug screening system of GPR119 program and evaluate in vitro and in vivo data
• Pharmacology/ Biology team leader, drive the lead optimization program and expand clinical indication

Project Co-leader/Biology Lead, CETP (2009 - 2012),
Dyslipidemia
• Co-lead the CETP program develop a clinical candidate
• Establish drug screening system of CETP program and evaluate in vitro and in vivo data
• Pharmacology/ Biology team leader and drive the program from lead optimization to clinical candidate nomination (CKD-519)
• Co-developed preclinical and clinical strategy
• Co-developed strategy to define PK/PD/efficacy relationship and optimal dosing regimens.
• Phase I study was completed in Australia
• Managed collaboration with extramural researches including CROs and academies.

Project Co-leader/Biology Lead, PDE5 (2008 - 2010),
Benign prostatic hyperplasia/ Overactive bladder syndrome
• Pharmacology/ Biology leader, Co-lead the PDE5 program develop a clinical candidate (CKD-533)
• Establish drug screening system and evaluate in vitro and in vivo data in Benign prostatic hyperplasia and Overactive bladder syndrome
• Managed collaboration with extramural researches including CROs and academies.


 

PUBLICATIONS

1. Alec S T Smith, Jong Hyun Kim, Chanho Chun, Ava Gharai, Hyo Won Moon, Eun Young Kim, Soo Hyun Nam, Nina Ha, Ju Young Song, Ki Wha Chung, Hyun Myung Doo, Jennifer Hesson, Julie Mathieu, Mark Bothwell, Byung-Ok Choi, Deok-Ho Kim. HDAC6 inhibition corrects electrophysiological and axonal transport deficits in a human stem cell based model of Charcot-Marie-Tooth Disease (Type2D). Advanced Biology. 2022 Feb;6(2):32101308
2. Daekwon Bae, Ji-Young Lee, Nina Ha, Jinsol Park, Jiyeon Baek, Donghyeon Suh, Hee Seon Lim, Soo Min Ko, Taehee Kim, Da Sm Jeong, Woo-Chan Son. CKD-506: A novel HDAC6-selective inhibitor that exerts therapeutic effects in a rodent model of multiple sclerosis. Scientific Reports. 2021 Jul;11:14466
3. Daekwon Bae, Youngil Choi, Jiyoung Lee, Nina Ha, Donghyeon Suh, Jiyeon Baek, Jinsol Park, Woochan Son. M-134, a novel HDAC6-selective inhibitor, markedly improved arthritic severity in a rodent model of rheumatoid arthritis when combined with tofacitinib. Pharmacol Rep. 2021 Feb; 73(1): 185-201
4. Nina Ha, Young Il Choi, Namhee Jung, Ju Young Song, Dae Kwon Bae, Min Cheol Kim, Yong Jae Lee, Hyeseung Song, Geon Kwak, Soyeon Keong, Saeyoung Park, Soo Hyun Nam, Sung-Chul Jung, Byung-Ok Choi. A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot–Marie–Tooth disease type 1A. Br J Pharmacol. 2020 Nov; 177(22): 5096-5113
5. Jin Kuhn Park, Yu Jin Jang, Bo Ram Oh, Jieun Shin, Daekwon Bae, Nina Ha, Young il Choi, Gi Soo Youn, Jinseu Park, Eun Young Lee, Eun Bong Lee, Yeong Wook Song. Therapeutic potential of CKD-506, a novel selective histone deacetylase 6 inhibitor, in a murine model of rheumatoid arthritis. Arthritis Res Ther. 2020 Jul 25;22(1):176.
6. Jung Won Lee, Soung-Min Lee, Jaeyoung Chun, Jong Pil Im, Su-Kil Seo, Nina Ha, Young Il Choi, Joo Sung Kim. Novel Histone Deacetylase 6 Inhibitor CKD-506 Inhibits NF-κB Signaling in Intestinal Epithelial Cells and Macrophages and Ameliorates Acute and Chronic Murine Colitis. Inflamm Bowel Dis. 2020 May 12;26(6):852-862
7. Eum Wha Choi, Ji Woo Song, Nina Ha, Young Il Choi, Sungjoo Kim. CKD-506, a novel HDAC6-selective inhibitor, improves renal outcomes and survival in a mouse model of systemic lupus erythematosus. Sci Rep. 2018 Now 23;8(1):17297
8. Bo Ram Oh, Dong-Hyeon Suh, Daekwon Bae, Nina Ha, Young Il Choi, Hyun Jung Yoo, Jin Kyun Park, Eun Young Lee, Eun Bong Lee, Yeong Wook Song. Therapeutic effect of a novel histone deacetylase 6 inhibitor, CKD-L, on collagen-induced arthritis in vivo and regulatory T cells in rheumatoid arthritis in vitro. Arthritis Res Ther. 2017 Jul 3;19(1):154
9. Ji-Yon Kim, So-Youn Woo, Young Bin Hong, Heesun Choi, Jiwoo Kim, Hyunjung Choi, Inhee Mook-Jung, Nina Ha, Jangbeen Kyung, Soo Kykung Koo, Sung-Chul Jung, Byung-Ok Choi. HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation. Stem Cells Int. 2016 Dec 2016:9475981
10. Jae-Hwan Park, In-Chang Hwang, Nina Ha, Sera Lee, Jung Min Kim, Sung Sook Lee, Hosung Yu, In-Taek Lim, Jun-A You, Dal-hyun Kim. Effects of the anti-sepsis drug, (S)-1-(α-naphthylmethyl)-6,7-dihydroxy-1,2,3,4-tetrahydroisoquinoline (CKD-712), on mortality, inflammation, and organ injuries in rodent sepsis models. Arch Pharm Res. 2011 Mar;34(3):485-94
11. Dae-Hee Lee, Nina Ha, Yung-Min Bu, Hyoung Il Choi, Yoo Guen Park, Yon Bum Kim, Mi-Yeon Kim, Hocheol Kim. (2006) Neuroprotective Effect of Buddleja officinalis Extract on Transient Middle Cerebral Artery Occlusion in Rats. Biol Pharm bull. 2006 Aug;29(8):1608-12
12. Yungmin Bu, Zhen Hua Jin, Sun Soung Park, Sunkyung Baek, Sungju Rho, Nina Ha, Seong Ku Park, Hocheol Kim, Sun Yeo Kim. (2005) Siberian ginseng reduces infarct volume in transient focal cerebral ischaemia in Sprague-Dawley rats. Phytother Res. 2005 Feb;19(2):167-9

 

Gilles Atlan vice president

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NF2 BioSolutions

Future NF2 treatment approaches by patient-led-nonprofit NF2 BioSolutions

NF2 BioSolutions is a patient-led nonprofit aiming at jumpstarting novel therapies research for NF2 rare disorder. In this presentation, Gilles Atlan that is the father of Karen(16) diagnosed with NF2, is going to present the different researches that NF2 BioSolutions jumpstarted or support and the ongoing challenges with dealing with NF2 research.

Gilles is Vice President of NF2 BioSolutions patient-led nonprofit. Gilles has over 30 years of experience in the software industry and currently works for SAP Labs as an Business AI Manager. Gilles’s daughter, Karen, was diagnosed with NF2 at age of 6 due to a juvenile cataract. Today Karen has already undergone 4 surgeries and tried different drugs to control her many tumors. Gilles grew up in France, lived near San Francisco for more than 10 years, and today is based in Israel. He holds a BSc in Mechanical Engineering from Ben Gurion University and an MSc in Computer Science from the University of Manchester. Gilles specializes in innovation methodologies and is applying these skills to grow and develop NF2 BioSolutions (NBS). Gilles strongly believes that novel therapies like cell/gene and immunotherapies are the best hope for a better future for NF2 patients. In 4 years, NF2 BioSolutions jumpstarted and sponsored more than 10 labs in the USA, UK, and France.

이범희 교수

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Early access for new treatment in rare genetic disease

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There are approximately 7,000 known rare diseases, but less than 5% of them are treatable.
Research on the development of treatments for various rare genetic diseases is becoming active, and new treatments are being proposed.
There are many limitations to applying new treatments to patients' treatment, and this presentation introduces concerns and successful cases regarding these.

서울아산병원 소아청소년과

Education

Seoul National University M.D. 1993- 1999
Seoul National University Ph.D., Molecular Genetics
2007-2011

BRIEF CHRONOLOGY OF EMPLOYMENT

 Residency
Department of Pediatrics, Seoul National University Children’s Hospital 2000-2004
 Fellow
- Division of Pediatric Nephrology, Department of Pediatrics,
Seoul National University Children’s Hospital
2007-2009
- Medical Genetics, Department of Pediatrics, Asan Medical Center
2009-2011
 Assistant Professor
-University of Ulsan College of Medicine, Seoul, Korea
2011 – 2015
 Aossociate Professor
-University of Ulsan College of Medicine, Seoul, Korea
2016-2021

 Professor
-University of Ulsan College of Medicine, Seoul, Korea
2021-

 PostDoc Fellowship
-Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mout Sinai, New York, NY (Dr. Robert J. Desnick’s Lab.)
Oct 2013- Sep 2015

SOCIETIES

Associate Editor, BMC pediatrics
Editorial Board Member, International Journal of Stem Cells.
Member, Korean Society of Medicine
Member, Korean Society of Pediatrics
Secretary General, Korean Society of Medical Genetics and Genomics
Member, Korean Society of Inherited Metabolic Disease
Member, Korean Society of Pediatric Nephrology

PUBLICATIONS

1. Kim H, Yoon HM, Kim EK, Ra YS, Kim HW, Yum MS, Kim MJ, Baek JS, Sung YS, Lee SM, Lim HS, Lee BJ, Lim HT, Kim D, Yoon J, Bae H, Hwang S, Choi YH, Kim KA, Choi IH, Lee SW, Park SJ, Lee BH. Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma. Neuro Oncol. 2024 Jul 8:noae121. doi: 10.1093/neuonc/noae121. Epub ahead of print. PMID: 38975694.
2. Hwang S, Bae H, Yoon JH, Kim D, Do HS, Heo SH, Kim S, Yoo HW, Istaiti M, Zimran A, Lee BH. A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease. Am J Hematol. 2024 Jul;99(7):1396-1399. doi: 10.1002/ajh.27302.
3. Tomomasa D, Lee BH, Hirata Y, Inoue Y, Majima H, Imanaka Y, Asano T, Katakami T, Lee J, Hijikata A, Worakitchanon W, Yang X, Wang X, Watanabe A, Kamei K, Kageyama Y, Seo GH, Fujimoto A, Casanova JL, Puel A, Morio T, Okada S, Kanegane H. Inherited CARD9 Deficiency Due to a Founder Effect in East Asia. J Clin Immunol. 2024 May 17;44(5):121. doi: 10.1007/s10875-024-01724-7. PMID: 38758287.
4. Jang G, Shin HR, Do HS, Kweon J, Hwang S, Kim S, Heo SH, Kim Y, Lee BH. Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing. Mol Ther Nucleic Acids. 2023 Feb 14;31:586-595. doi: 10.1016/j.omtn.2023.02.009. PMID: 36910714; PMCID: PMC9996127.
5. Choi JB, Seol DW, Do HS, Yang HY, Kim TM, Byun YG, Park JM, Choi J, Hong SP, Chung WS, Suh JM, Koh GY, Lee BH, Wee G, Han YM. Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease. Mol Ther. 2023 Apr 5;31(4):1002-1016. doi: 10.1016/j.ymthe.2023.02.003. Epub 2023 Feb 8. PMID:36755495; PMCID: PMC10124081.
6. Lee Y, Han J, Hwang SB, Kang SS, Son HB, Jin C, Kim JE, Lee BH, Kang E. Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome. BMB Rep. 2023 May 9:5823. Epub ahead of print. PMID: 37156631.
7. Jung J, Lee JH, Seo GH, Keum C, Kang HG, Cho H, Lee H, Park SK, Baek CH, Han R, Lee ST, Cho MH, Yim HE, Koo JW, Lee BH. Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application. Clin Genet. 2023 Jun 4. doi: 10.1111/cge.14382. Epub ahead of print. PMID: 37270787.1.
8. Kim EN, Do HS, Jeong H, Kim T, Heo SH, Kim YM, Cheon CK, Lee Y, Choi Y, Choi IH, Choi J, Yoo HW, Kim CJ, Zimran A, Kim K, Lee BH. Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease. Clin Transl Med. 2022 May;12(5):e862
9. Kim YM, Yum MS, Heo SH, Kim T, Jin HK, Bae JS, Seo GH, Oh A, Yoon HM, Lim HT, Kim HW, Ko TS, Lim HS, Osborn MJ, Tolar J, Cozma C, Rolfs A, Zimran A, Lee BH, Yoo HW. Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy. J Med Genet. 2020 Feb;57(2):124-131.
10. Lee J, Kang E, Byeon JH, Yu HJ, Shin YL, Oh A, Kim WJ, Yum MS, Lee BH, Eun BL. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay. Mol Med. 2022 Mar 26;28(1):38.
11. Hwang J, Yoon HM, Lee BH, Kim PH, Kim KW. Efficacy and Safety of Selumetinib in Pediatric Patients With Neurofibromatosis Type 1: A Systematic Review and Meta-analysis. Neurology. 2022 Mar 1;98(9):e938-e946.
12. Kang E, Kim YM, Choi Y, Lee Y, Kim J, Choi IH, Yoo HW, Yoon HM, Lee BH. Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression. Orphanet J Rare Dis. 2022 Jan 29;17(1):24.
13. Kang E, Kim YM, Seo GH, Oh A, Yoon HM, Ra YS, Kim EK, Kim H, Heo SH, Kim GH, Osborn MJ, Tolar J, Yoo HW, Lee BH. Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types. J Hum Genet.2020 Jan;65(2):79-89.
14. Do HS, Park SW, Im I, Seo D, Yoo HW, Go H, Kim YH, Koh GY, Lee BH, Han YM. Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells. EBioMedicine. 2020 Feb;52:102633.
15. Kang E, Kang M, Ju Y, Lee SJ, Lee YS, Woo DC, Sung YH, Baek IJ, Shim WH, Son WC, Choi IH, Seo EJ, Yoo HW, Han YM, Lee BH. Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature. J Med Genet. 2021 Nov;58(11):767-777.
16. Seo GH, Kim YM, Oh SH, Chung SJ, Choi IH, Kim GH, Yum MS, Choi JH, Kim KM, Ko TS, LEE BH, Yoo HW. Biochemical and molecular characterisation of neurological Wilson disease. Journal of medical genetics. 2018;55(9):587-93.
17. LEE BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. Journal of medical genetics. 2017;54(9):585-90.
18. Heo SH, Kang E, Kim YM, Go H, Kim KY, Jung JY, Kang M, Kim GH, Kim JM, Choi IH, Choi JH, Jung SC, Desnick RJ, Yoo HW, LEE BH. Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy. Journal of medical genetics. 2017;54(11):771-80.

And more than 170 publications.

Major Clinical Trial Experience:

2013~2019: An Open, Phase I/II, Investigator Initiated Trial to Evaluate the Safety and Efficacy of High-dose Ambroxol in Combination with Enzyme Replacement Therapy in Gaucher Disease Patients

2011-2012: Phase II study to evaluate the safety and efficacy of ISU302 in Gaucher disease

2012-2013: Phase II study to evaluate the safety and efficacy of ISU303 in Fabry disease

2014-2018: Phase III study to evaluate the safety and efficacy of recombinant growth hormone in Prader-Willi syndrome

2019- : Safety and efficacy of Selumetinib in Korean patients with neurofibromatosis type 1 and plexiform neurofibromas

2022- : Safety and Efficacy of UX007 (Triheptanoin) in Korean patients with long-chain fatty acid oxidation disorders

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