Cambridge Healthtech Institute’s 3rd Annual

Rare Disease Drug Development
( 罕见疾病治疗药物开发 )




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, over 80% of which are genetic in origin, that affect more than 25 million Americans. Only 5% of these rare diseases have an approved treatment option, although precision medicine is now helping by allowing us to define numerous new types of “rare” diseases that are specific subsets of major disease categories. Cambridge Healthtech Institute’s annual symposium on Rare Disease Drug Development will bring together leading scientists, clinicians, executives and experts involved in finding new drug targets, drug modalities and innovative strategies for treating orphan diseases. This focused one-day event will encourage scientific and technical experts to share recent findings, new technologies and best practices for rare disease research and drug development.

Final Agenda


Recommended Short Course

4:40 pm Dinner Short Course Registration*

5:00 - 8:00 SC4: Gene Editing for Targeted Therapies


Clifford Steer, MD, Professor of Medicine and Genetics, Cell Biology, and Development; Director, Molecular Gastroenterology Program, University of Minnesota Medical School

Khalid Shah, MS, PhD, Director, Center for Stem Cell Therapies and Imaging, Harvard Medical School; Vice Chair of Research, Brigham and Women’s Hospital

Additional Instructors to be Announced

*Separate registration required.


7:30 am Registration and Morning Coffee


8:15 Welcome Remarks from Conference Director

Tanuja Koppal, PhD, Senior Conference Director, Cambridge Healthtech Institute

8:25 Chairperson’s Opening Remarks

David Erbe, PhD, Distinguished Investigator, Alnylam Pharmaceuticals

8:30 Delivering on the Promise of RNAi Therapeutics

Erbe_DavidDavid Erbe, PhD, Senior 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 genetic and other diseases.

9:00 Novel STING Antagonists for Interferonopathies and Autoimmune Diseases

Iyer_KrisRadhakrishnan P. Iyer, PhD, Co-Founder and CSO, Spring Bank Pharmaceuticals

Cellular immune responses to double-stranded DNA result in the activation of the cGAS-STING pathway for IFN production; however, aberrant activation of the STING pathway has been hypothesized to cause autoimmune diseases. Reported here is the discovery of small molecule STING antagonists that broadly inhibit aberrant STING-signaling with potential therapeutic applications in inflammatory diseases including systemic lupus erythematosus (SLE), and rare diseases including Aicardi-Goutières Syndrome, Sjogren’s syndrome, SAVI, familial chilblain lupus and so on.

9:30 Protein Replacement with mRNA for Inherited Metabolic Diseases

Giangrande_PalomaPaloma H. Giangrande, PhD, Director, Research, Rare Diseases, Moderna Therapeutics

Many rare inherited metabolic disorders are caused by deficiency of essential intracellular proteins responsible for maintaining proper homeostasis. Conventional protein replacement (e.g., enzyme replacement therapy or ERT) 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 diseases, 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 for several rare metabolic disorders will be presented.

10:00 Networking Coffee Break


10:30 PANEL DISCUSSION: Rare, Ultra-Rare, and the Impact of Precision Medicine

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

Panelists: Michael Montgomery, MD, Former Global Head of Medical Affairs, Incyte Pharmaceuticals

E. Michael D. (“Mike”) Scott, Founding Partner and Executive Rebel, Ex Archa

Much of current rare disease research and practice targets the potential that genetics is the major driver of these conditions and while this is likely an important factor, it may not be the sole driver. Rare disease diagnosis is complicated as these diseases are complex even though small population numbers limit the potential for adequate stratification. Additionally, other factors that may arise during fetal development, beyond epigenetics, may have a causal relationship.

11:30 Sponsored Presentation (Opportunity Available)

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

12:30 Session Break


1:15 Chairperson’s Remarks

Anthony Hicks, PhD, Director, UNC Catalyst for Rare Diseases, University of North Carolina, Eshelman School of Pharmacy

1:20 Down to the Last Base: Genetic Screens for Variant-to-Function

Doench_JohnJohn Doench, PhD, Director R&D, Genetic Perturbation Platform, Broad Institute of Harvard and MIT

Genome-wide CRISPR screens have revitalized functional genomics. Large-scale data sets enable rapid hypothesis generation, and focused screening efforts can provide detailed mechanistic insights into the function of any gene of interest. Here I will discuss how CRISPR screens are being employed in gene function discovery projects, with an emphasis on the latest technological advances.

1:50 Correction of a Progeriod Mouse Model with Optimized Base Editors

Koblan_LukeLuke Koblan, Graduate Student, Laboratory of Dr. David Liu, Department of Chemistry and Chemical Biology, Harvard University

Base editors are genome-editing reagents capable of installing directed single nucleotide conversions in genomic DNA. We have developed a split-intein AAV system for in vivo delivery of these tools and have used these reagents for the correction of the c.1824T mutation that drives the majority of Hutchinson-Gilford Progeria Syndrome (HGPS) cases.

2:20 Networking Refreshment Break

2:40 Modifier Genes: En Route to Identify Compensatory Mechanisms to Improve Rare Disease Outcomes

Graovac_MajaMaja Tarailo-Graovac, PhD, Assistant Professor, Departments of Medical Genetics and Biochemistry & Molecular Biology, Alberta Children’s Hospital Research Institute (ACHRI), Cumming School of Medicine, University of Calgary

Advances in high-throughput sequencing have revolutionized diagnosis and discovery in rare diseases by enabling the entire genome of an individual to be read in a single test. Importantly, genome sequencing allows testing of how variants within a genome interact to modify the effect of the primary disease-causing variant. My interdisciplinary research team combines human and model organism genomics in order to accelerate discovery of compensatory mechanisms in rare disease via modifiers known as suppressors.

3:10 A Multidisciplinary Approach to Discovery and Development of Rare Disease Therapy

Hickey_AnthonyAnthony Hicks, PhD, Director, UNC Catalyst for Rare Diseases, University of North Carolina, Eshelman School of Pharmacy

Rare disease research and development requires urgent interfacing of a range of disciplines to bring forward new therapies due to the severity of disease, poor quality of life and mortality associated with many disorders. Catalyzing parallel interactions between subject matter experts across disciplines facilitates the rapid identification of targets and development of therapeutic strategies to address unmet medical needs.

3:40 Accelerating Research in Rare Disease through Patient-Partnered Collaborations

Leung_RyanRyan Leung, Vice President, Strategy & Corporate Development, Research to the People

Patient-centricity is becoming increasingly important in all areas of healthcare, particularly in rare diseases. With so few patients, it is critical that we make the most out of every patients’ story and experience, engaging them at every point of research, development, care, and treatment. Leveraging advances in -omics, bioinformatics, deep learning, and cloud computing, we partner with patients directly to help them access and understand their health data while creating new opportunities for rare disease research. With 5 successful collaborations to date, we’ll share our thoughts on the impact and potential of patient-partnered research.

4:10 Close of Symposium

* 活动内容有可能不事先告知作更动及调整。

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