Cambridge Healthtech Institute’s 2nd Annual

Drug Discovery for Rare Diseases

Exploring New Technologies, Targets and Drug Modalities

March 28, 2019


Rare diseases, or diseases that affect only a small percentage of the population, have grown in significance and prominence in recent years. According to the National Institutes of Health, there are nearly 7000 rare diseases and more than 25 million Americans who are affected. Approximately 80% of these rare diseases are genetic in origin. Cambridge Healthtech Institute’s symposium on Drug Discovery for Rare Diseases will bring together leading scientists, clinicians, executives and experts who are involved in finding new drug targets and drug modalities for treating rare disorders. This unique one-day event will encourage people from diverse backgrounds to discuss potential opportunities, as well as existing challenges in this field. It’s an opportunity for scientific and technical experts to come together to exchange ideas, experiences and to set up collaborations for rare disease research.

Final Agenda


7:30 am Registration and Morning Coffee


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 TsengWei 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 Patient-customized Oligonucleotide Therapy for Batten disease

Timothy Yu, MD, Attending Physician, Division of Genetics & Genomics & Manton Center for Orphan Disease, Boston Children’s Hospital, Assistant Professor, Harvard Medical School and Associate Member, Broad Institute of MIT and Harvard


We will discuss our experience with the accelerated development of the patient-specific drug milasen, as rescue therapy for a young girl with rapidly progressive neurodegenerative disease, which raises questions about opportunities and challenges in the deployment of antisense oligonucleotides for personalized medicine.


12:00 pm Enjoy Lunch on Your Own

12:30 Session Break


1:15 Chairperson’s Remarks

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

1:20 mRNA Therapy for Rare Metabolic Diseases

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

Many rare inherited metabolic disorders are caused by deficiency of essential intracellular enzymes responsible for maintaining proper homeostasis. Enzyme replacement and gene therapy-based approaches are not an option for treating these disorders due to drug-delivery and efficacy/safety considerations. To develop new treatments for these enzymopathies, we encapsulated nucleoside-modified, codon-optimized mRNAs encoding these genes in lipid nanoparticles. Preclinical data demonstrating the efficacy and safety of our mRNA-LNP therapy will be presented.

1:50 Delivering on the Promise of RNAi Therapeutics

Erbe_DavidDavid Erbe, PhD, Distinguished Investigator, Alnylam Pharmaceuticals

RNAi (RNA interference) is a natural cellular process of gene silencing that represents one of the most promising and rapidly advancing frontiers in biology and drug development today. By harnessing this process, a new class of medicines, known as RNAi therapeutics, is now a reality with the potential to transform the care of patients with a wide range of severe and debilitating diseases.

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


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

Jon Morris, MD, VP Provider Solutions & CMIO, IQVIA

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.

3:30 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.

4:00 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.

4:30 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.

5:00 Close of Symposium