Cambridge Healthtech Institute’s 2nd Annual

Drug Discovery for Rare Diseases
(희귀질환용 Drug Discovery)

새로운 기술, 표적, 의약품 모달리티의 탐구

2019년 3월 28일


희귀질환은 환자의 수가 적은 질환이나, 최근 그 중요도와 주목도는 높아지고 있습니다. 미국국립보건원(NIH)에 따르면 현재 세계에는 약 7,000 종류의 희귀질환이 존재하며, 희귀질환에 걸린 미국인은 2,500만 명 이상이라고 합니다. 또한 희귀질환약의 80%는 유전자 유래입니다. 희귀질환용 Drug Discovery를 테마로 한 이 심포지엄에서는 희귀질환 치료용 새로운 치료제 표적 및 의약품 모달리티 발견에 관련된 주요 연구자 및 임상의, 기업 임원, 전문가가 참가합니다. 종일 진행되는 이 심포지엄은 다양한 전문 분야의 인사들이 모여 이 분야의 다양한 가능성과 현재 직면하고 있는 문제에 대해 논의하는 유일한 이벤트로, 연구자 및 전문가가 새로운 아이디어와 지금까지의 성과에 대해 의견을 교환하고 협업 관계를 구축할 수 있는 최적의 기회입니다.


Final Agenda

THURSDAY, MARCH 28

7:30 am Registration and Morning Coffee

희귀질환을 위한 새로운 툴

8:15 Welcome Remarks from Conference Director

Tanuja Koppal, PhD, Conference Director, Cambridge Healthtech Institute

8:25 Chairperson’s Opening Remarks

Timothy J. Miller, PhD, President & CSO, Abeona Therapeutics, Inc.

8:30 Human-on-a-Chip Systems for Utilization in Rare Disease Therapeutic Evaluations

James J. Hickman, PhD, Professor, Nanoscience Technology, Chemistry, Biomolecular Science, and Electrical Engineering, University of Central Florida

Phenotypic screening systems for rare disease investigations are one of the few methods of providing useful information for therapeutic development without a known target. Human-on-a-chip systems can potentially establish a therapeutic index before evaluation in clinical trials and also gives the possibility of target identification.

9:00 Precision Medicine for Targeting a Rare Neurological Disorder Using Human Cell-Based Models

Wei Chou Tseng, PhD, Senior Scientist, Cell Biology, Q-State Biosciences

We have created a powerful platform for probing diseases of the human nervous system. This platform brings together advances in stem cell biology, optical electrophysiology, genomics, and computation to create cell-based models of human neurologic diseases as a path to developing novel therapeutics to address unmet needs. This talk will describe strategies to devise treatments for a patient with a mutation in the autophagy pathway.

9:30 Considerations for Late-Stage Gene and Cell Therapies

Timothy J. Miller, PhD, President & CSO, Abeona Therapeutics, Inc.

The recent success of multiple Phase I/II gene therapy clinical trials has highlighted challenges in manufacturing and clinical efficacy assessments. These promising trials have helped increase potential treatment options for rare disease patients, and the field is now focusing on considerations for approval endpoints, how a single-administration of a life-saving drug can be reimbursed, and what the next era of gene therapy will bring.

10:00 Networking Coffee Break

10:30 Apelinergic Therapy in Pulmonary Arterial Hypertension

Hyung Chun, MD, FAHA, Associate Professor of Medicine and Pathology, Yale School of Medicine

Pulmonary arterial hypertension remains a rare disease of the lungs and the heart without a curative therapy. Apelin, a secreted ligand for the G protein coupled receptor APLNR (APJ), has been found to have multiple beneficial effects in this disease context, including promoting pulmonary vasorelaxation, reverse vascular remodeling, and improvement in the right heart function. The promise and challenges of targeting this pathway as a novel therapy in PAH will be discussed.

11:00 Value of a Patient-Centered Approach to Discovery of Drugs for Rare Diseases

Durhane Wong-Rieger, President & CEO, Canadian Organization for Rare Disorders

Researchers engaged in the very early stages of understanding a rare disease and the potential diagnostic and therapeutic interventions would benefit from understanding the perspectives of patients and families, how the disease affects them beyond the biomedical and clinical symptoms including quality of life as well as the realities of the healthcare system and policy environment. Similarly, patients and their groups would benefit tremendously from better understanding the drug discovery process and how they can potentially contribute.

11:30 Sponsored Presentation (Opportunity Available)

12:00 pm Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

12:30 Session Break

희귀질환을 위한 새로운 툴

1:15 Chairperson’s Remarks

Paloma H Giangrande, Director, Research, Rare Diseases, Moderna Therapeutics

1:20 mRNA Therapy for Rare Metabolic Diseases

Paloma H Giangrande, Director, Research, Rare Diseases, Moderna Therapeutics

1:50 Delivering on the Promise of RNAi Therapeutics

David Erbe, PhD, Distinguished Investigator, Alnylam Pharmaceuticals

2:20 Networking Refreshment Break

2:40 PANEL DISCUSSION: Rare Diseases - From Simple to Complicated, Complex and Cure

Moderator: Michael N. Liebman, PhD, Managing Director, IPQ Analytics, LLC

Panelists:

Debbie Lin, PhD, Executive Director, Venture Fund Digital Health, Boehringer-Ingelheim

Durhane Wong-Rieger, President & CEO, Canadian Organization for Rare Disorders

This panel will focus on the complexities of diagnosing and stratifying rare diseases using both traditional clinical observations and the application of digital health methodologies. Rare diseases share many real-world issues with common diseases, but patient numbers limit the application of conventional statistical analyses. Discussion of approaches and examples of how novel methodologies and technologies can improve patient care and drug development will be presented, as well as the stratification of some common diseases into rare disease subtypes.


3:10 FEATURED PRESENTATION: Gene Therapy Projects at NCATS and the NIH Common Fund Somatic Cell Genome Editing Program

Philip John (P.J.) Brooks, PhD, Program Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH)

This talk will cover: Perspectives on gene therapy from the National Center for Advancing Translational Sciences, with an emphasis on platform approaches; the Rare Diseases Clinical Research Network as a clinical trial platform for gene therapy and genome editing; and the NIH Common Fund Program on Somatic Cell Genome Editing.

3:40 Disrupting a BCL11A Enhancer with Zinc Finger Nucleases (ZFNs) for the Potential Treatment of Sickle Cell Disease and Beta Thalassemia

Alexandra Hicks, PhD, Executive Director, Hemoglobinopathies, Bioverativ, a Sanofi Company

High fetal hemoglobin (HbF) levels are associated with asymptomatic sickle cell disease and less severe beta-thalassemia. BIVV-003 is a novel gene editing treatment comprising autologous HSPCs modified with ZFNs targeted to the erythroid-specific enhancer sequence of BCL11A, a key transcriptional regulator of fetal to adult hemoglobin switching. We will present preclinical data showing that the human HSPCs of BIVV-003 are efficiently and reproducibly edited at the BCL11A enhancer with high specificity resulting in reactivation of HbF expression. These edited HSPCs exhibit normal functionality and are capable of long-term engraftment in vivo.

4:10 Paving a Legal Path for Translational Genome Editing

Paul Enríquez, JD, LLM, PhD Candidate, Structural and Molecular Biochemistry, North Carolina State University

CRISPR systems are pushing the frontiers of genome editing applications with remarkable speed. Exciting prospects for revolutionizing personalized medicine and gene therapies are on the horizon. However, uncertainty looms concerning how law and policy will promote or hinder development of this nascent biotechnology. This talk identifies regulatory gaps, examines current challenges and opportunities in the field, and outlines a practical legal path for translating genome editing into the clinic.

4:40 Close of Symposium

* 주최측 사정에 따라 사전 예고없이 프로그램이 변경될 수 있습니다.




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