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Advances in Rare Disorders

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Beth Israel Deaconess Medical Center (BIDMC)

330 Brookline Avenue

Boston, MA 02215

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Symposium around the new trends and technological innovations in the treatment of rare diseases

About this Event

A disorder is considered rare in the USA when it affects fewer than 200,000 people (or 1 in 2,000 in Europe). However, the scenario is of public concern if we consider the severity and the sheer number of these diseases. More than 6,000 rare disorders have been described affecting 300 million people around the world (30 million in Europe and 25 million in the USA), meaning that roughly one out of 15 people worldwide could suffer a rare disorder. Most of these diseases are chronic and life-threatening, and they present different challenges from those of more common diseases. The few patients that suffer from a rare disorder are usually scattered across countries, hampering the proper documentation of the natural history of the disease and patient management.

As a consequence, it takes an average of around five years to get a proper diagnosis, and 95% of rare disorders lack approved treatment. Besides, the impact on patients and families can be devastating, since 50% of the disorders affect children and 30% of them will die before the age of 5. The vast majority of rare diseases (80%) have a genetic component, and, therefore, the development of new drugs based on genetic information as well as gene and cell therapies is taking the lead on patient management. For this reason, and with the upcoming Rare Disease Day on February 29th, ECUSA would like to highlight the advances in cutting-edge treatments for these disorders.

We have invited four recognized researchers who are running the race towards a cure for these diseases.

Luk H. Vandenberghe, PhD, is the Grousbeck Family Associate Professor in Gene Therapy at Mass Eye and Ear and Harvard Medical School, Director of the Grousbeck Gene Therapy Center, and an Associate Member of the Broad Institute of Harvard and MIT in Boston, MA, USA. He received a degree in cellular and genetic engineering from the University of Leuven (Belgium) and subsequent training in several translational gene therapy laboratories at the University of Pennsylvania. His previous work led to the discovery of novel AAV serotypes such as AAV9, novel insights into AAV structure-function, and vector immunobiology. His laboratory aims to gain a deeper understanding of mechanisms of gene transfer, to develop technologies to overcome hurdles to gene therapy clinical applications, and to translate specific gene therapy programs in vision, hearing, and other fields. Dr. Vandenberghe previously co-founded several biotechs and a non-profit called Odylia Therapeutics aimed at catalyzing translation for gene therapies within the challenging field of ultra-rare disorders. Dr. Vandenberghe has over a dozen licensed patents and more than 80 peer reviewed publications in the field of gene therapy.

In his talk, Luk will address how gene therapy seeks to address disease at a genetic level through delivery of therapeutic genes to the patient. This novel modality in medicine is particularly applicable for genetically defined disorders. Inherited genetic disease is often only affecting small number of patients, and therefore make up a significant fraction of all rare diseases. During his to “Genetic causes of blindness and successes in gene therapy”, we will discuss the key principles of gene therapy and provide a historical narrative how the advent of modern genetics at the latter end of the last century in ophthalmology led to the first approved gene therapy product for a rare form of an inherited retinal disease.

Carmen Unzu Ph.D. has 10+ years of experience in developing gene therapy approaches for inborn rare liver diseases. She obtained her Ph.D. at CIMA, University of Navarra (Spain), where she developed non-integrative viral methods for in-vivo liver gene transfer. Dr. Unzu completed her postdoctoral training in Switzerland, where she worked on gene and stem cell therapy combination as an ex-vivo approach to inborn liver disease, under the joint supervision of Dr. Wildhaber (University of Geneva) and Dr. Trono (EPFL). Next, she joined the Grousbeck Gene Therapy Center (Vandenberghe lab, MEEI/HMS) in Boston, where she worked on the validation of novel synthetic AAV vectors and their translational applications in different pre-clinical models. Currently, Dr. Unzu is the Principal Scientist of the liver program at Apic Bio, a biotech committed to finding cures for patients with genetic disorders.

On her talk “Liver disorders and latest advances in gene therapy”, she will review and discuss the most promising avenues for treating rare inborn liver disease in clinical and preclinical stage.

Dr. Pietro Genovese, Ph.D., is Principal Investigator at the Gene Therapy Program of Dana-Farber/Boston Children’s Cancer and Blood Disorder Center, Assistant Professor of Pediatrics at Harvard Medical School. In the last 15 years, he dedicates his efforts to develop genome editing tools that improve the safety and efficacy of adoptive immunotherapy or promote safer applications of human stem cell gene therapy. Working with the group of Luigi Naldini at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), he contributed to pioneer this field since when ZFNs were first shown to enhance gene targeting and be useful for genetic engineering of somatic cells for therapeutic purposes. In 2007, he contributed to a break-through work where they demonstrated for the first time the possibility to exploit ZFN to direct the integration of exogenous DNA sequences into a predetermined genomic locus of several human cell types (Lombardo, Genovese et al., Nat Biotech 2008). During his Ph.D. studies, he extended his knowledge and skills on this technology by developing the T cell receptor gene editing strategy to improve safety and efficacy of cancer adoptive immunotherapies (Provasi* Genovese* et al., Nat Med. 2012). This innovative approach is now widely used in the immunotherapy field for generating allo-compatible T cells or to express CAR genes under the control of endogenous TCR promoter. As post-doctoral associate, he engaged an ambitious study aimed to correct inherited mutations and developed the first protocol that allow targeted transgene integration in human hematopoietic stem cells (HSC) capable of long-term multilineage repopulation (Genovese at al., Nature 2014). As faculty member, his current efforts are aimed to move these advanced genetic engineering strategies towards an effective therapeutic treatment for inherited hematologic diseases. Dr. Genovese is author of several high-profile publications, co-inventor of more than 8 patents on gene editing technology, recipient of several awards, from which the Young Investigator Award from the ESGCT society (2016).

Rocio Fuente Perez Ph.D. has a bachelor’s degree in biology, a Master in Biomedicine and Cancer research, and a Ph.D. in Medicine. During her Ph.D., in Fernando Santos’ laboratory, she gained extensive knowledge in pediatric nephrology more specifically in renal tubulopathies, inherit rare disease affecting the renal tubules of the nephron. They developed a genetic portal called Renaltube, http://www.renaltube.com/en/, which is a clinical and molecular database of patients with some of the primary tubulopathies. Among which there is a disorder called the X linked hypophosphatemia or XLH. The study of the different therapeutic strategies in XLH children was the main topic of her doctoral thesis. And in this regard, they developed a new therapeutic approach for XLH patients based on growth hormone and the inhibition of the FGF23 pathway (hormone upregulated in this disease). Although Renal tubulopathies are considered rare disorders, the study of inherited tubulopathies characterized by an altered tubular salt handling can also be useful to extend the knowledge on mechanisms of body volume regulation and to identify possible genetic factors involved in the development of hypertension and salt sensitivity. As part of her Ph.D. program, she did a fellowship in the Welcome Trust Sanger Institute (Mouse genomics laboratory, UK) to gain experience in animal model modification technologies as are CRISPR/Cas9 and transposon mutagenesis. During the last two years as a postdoctoral Marie Curie fellow at Harvard University (Boston USA), she has been focused on stem cell regeneration for cartilage disorders. Nowadays, she also actively collaborates in ECUSA association (Spanish scientist in the USA) as chair of Advisory and MECUSA (Women in Science) programs in Boston. The primary mission of this association is to promote the role of science, technology, and professionals in our society.

In her talk, she will talk about X linked hypophosphatemia or XLH, a rare disorder, but it is the most common hereditary rickets. However, although XLH has been treated with vitamin D and phosphate derivatives for more than 20 years, the treatment of XLH children still has a lot of controversies. Finally, although Renal tubulopathies are rare disorders, the pathogenesis of these diseases can help to better understand the molecular basis of more frequent and complex disorders. The aim of this talk titled “Renal inherited disorders and new pharmacological approaches” is to deepen on renal tubulopathies and the importance of the genetic understanding of rare disorders in the clinic.

Event schedule

6.00 - 6.25 pm. Registration and networking

6.25 - 6.30 pm. Event presentation

6.30 - 7.00 pm. Genetic causes of blindness and successes in gene therapy, Luke H. Vandenberghe, PhD

7.00 - 7.30 pm. Liver disorders and latest advances in gene therapy, Carmen Unzu, PhD

7.30 - 8.00 pm. Blood disorders and ex vivo gene therapy and gene editing, Pietro Genovese, PhD

8.00 - 8.30 pm. Renal inherited disorders and new pharmacological approaches, Rocio Fuente Perez, PhD

8.30 - 9.00 pm. Networking and event closure

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Beth Israel Deaconess Medical Center (BIDMC)

330 Brookline Avenue

Boston, MA 02215

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