2018 RARE Champion of Hope Honorees

Hundreds of individuals and organizations worldwide were nominated by their peers to receive the RARE Champion of Hope Award for their notable efforts in rare disease advocacy, teen advocacy, science, collaborations, and medical care and treatment. From the extraordinary list of nominees, esteemed panelists selected the recipients to be honored as RARE Champions of Hope.

Please join us on October 4, 2018, from 5:00 pm to 10:00 pm for the RARE Champions of Hope Celebration at Hotel Irvine immediately following the RARE Patient Advocacy Summit. Admission is included with your Summit registration fee. To attend the Celebration only, you may purchase a ticket by clicking HERE. You may also join the Celebration via livestream by using this link.

This year’s Celebration will be a star-studded evening featuring performances by pop artist Cameron James, singer-songwriter Gracie Van Brunt, and pop/country duo Megan & Liz. Cameron is a rare disease patient as are her husband and her daughter, who both have Atypical Hemolytic Uremic Syndrome (aHUS). Gracie was a 2013 RARE Champion of Hope Patient Advocacy Award recipient. Talented twin sisters, Megan & Liz, have been nominated for multiple Teen Choice Awards and have a sensational online fan base with more than 275 million views on YouTube. They will perform their new song based on a story written by twin sisters living with a rare disease. Also in attendance will be Global Genes ambassador and rare disease advocate, Madison McLaughlin, actress from CW’s Arrow and Supernatural, and Brooke Lewis, philanthropist and actress from Breaking Dating and Scream Queen.

Global Genes is pleased to announce the 2018 RARE Champion of Hope Honorees:

Rising Star: Gabriella DiSalvo, Myofibrillar Myopathy (MFM) Advocate

Gabriella was born with MFM, a low muscle tone condition that affects the entire body and caused her to get scoliosis. It left her wheelchair bound but she never allowed her disability to stop her. With the National Junior Honor Society and her school, Gabriella ran a fundraiser that benefited patients with rare and genetic diseases. Gabriella gave a speech that motivated the entire school to wear purple and denim on Rare Disease Day to show that people, even those who you may have never met, truly do care about rare.

RARE Champion of Hope – Teen Advocacy: Kavi Gandhi, Development and Communications Coordinator, Yash Gandhi Foundation

Kavi is a 10th grade student, who at six years old, lost his brother to I-Cell. Since 2016, he has fiercely advocated on behalf of the I-Cell community to raise funds for research and to spread awareness about the disease. In the last three years, he organized annual 5K fundraisers, raising over $260,000 for I-Cell research. Kavi inspired a network of volunteers to grow awareness and has also given a platform to those affected by I-Cell to share their stories through a creative social media approach. His hope is that one day nobody should lose a sibling to I-Cell or other rare diseases.

RARE Champion of Hope – Advocacy: Luke Rosen, Founder, KIF1A.org, and Head of Patient Engagment, Ovid Therapeutics

When their daughter Susannah was diagnosed with KIF1A, Luke and his wife, Sally, made it their mission to discover treatment for Susannah and children like her. KIF1A.ORG is a research and advocacy organization dedicated to finding treatment for children living with KIF1A. It supports a clinical research program that provides personalized care and cutting-edge research driving the discovery of treatment. Recognizing the need for innovation and advocacy, Luke expanded his efforts with his position at Ovid Therapeutics, a development stage biotech focused on rare neurological conditions.

RARE Champion of Hope – Advocacy: Melissa Hogan, JD, President, Project Alive

Melissa is a lawyer by training, a writer by passion and an advocate by necessity. When her son Case was diagnosed with Hunter Syndrome/MPS II in 2009, Melissa left her career as a corporate lawyer and strategy consultant. She is President of Project Alive, a research and advocacy foundation that has helped multiply research on Hunter Syndrome including the initiation of a gene therapy research program. She is a Patient Representative for the Food and Drug Administration and member of the Patient Engagement Collaborative. Melissa is working on books on pediatric medical trauma and advocating for a child with a chronic medical condition.

RARE Champion of Hope – Advocacy: Isabelle Lousada, Founder and Chief Executive Officer, Amyloidosis Research Consortium (ARC)

Diagnosed with AL amyloidosis more than 20 years ago, Isabelle has been committed to empowering patients while breaking down the barriers that prevent successful drug development in rare diseases and improving outcomes. ARC is a pioneering, global organization that forges collaborations across sectors which advance the science and understanding of the amyloidoses diseases.

RARE Champion of Hope – Medical Care and Treatment: Jason Sicklick, MD, Associate Professor of Surgery, Moores Cancer Center, University of California, San Diego

Jason is a board-certified general surgeon and surgical oncologist specializing in the treatment of sarcomas, including gastrointestinal stromal tumors (GIST) and hepatobiliary diseases. His translational and clinical research focus on molecular mechanisms of GIST and precision medicine approaches to cancer therapy. As a clinician-scientist, he is interested in translating his scientific findings into the clinical care of his patients. He received his medical degree from the University of California, Los Angeles School of Medicine and completed his general surgery residency at The Johns Hopkins Hospital.

RARE Champion of Hope – Collaborations in Science and Technology: Alexion, Rady Children’s Institute for Genomic Medicine, Clinithink

Tom Defay, Senior Director of Research and Development and Alliances, Alexion

Tom spent most of his career discovering and developing therapies for neuroscience disorders such as Alzheimer’s and Parkinson’s disease. This changed when he joined Alexion with the goal of helping diagnose children with rare disease. This work has special significance for him, since his mother and grandfather died of a rare disease that, if diagnosed early enough, can be effectively managed. The collaboration with the Rady Children’s Institute for Genomic Medicine and Clinithink has made great progress against this goal, and has been a highlight of his career.

Paul McDonagh, PhD, Senior Director of Strategy Program Management and Data Science, Alexion

Paul moved to Boston, MA to follow his interest in unraveling cause-and-effect relationships in high dimensional molecular data and ink-jet microarray design. He spent the next seven years perfecting the industrial application of Bayesian causal inference to the pharmaceutical industry at GNS Healthcare. Opportunities to apply what he learned gave him the lead of the Computational Biology Group at Biogen. He now applies computation, probabilistic reasoning and data to drive commercial, strategic and research decision making at Alexion.

Sebastien Lefebvre, Senior Director of Data Analytics and Decision Support, Alexion

Sebastien has 19 years of experience leading and building data and analytics capabilities in the biopharmaceutical industry. He spent the last three years at Alexion building decision support capabilities and a cloud-based data computing environment for external collaboration. His past roles include Head of Global Data Office at Biogen and Head of Global Research and Development Information Architecture practice at AstraZeneca. Sebastien holds a MSc in Computational Chemistry and a MSc in Computer Sciences from Universitée de Montréal.

Margaret Bray, PhD, Senior Data Scientist, Alexion

Margaret earned her PhD in Biostatistics at Emory University. After a post-doc at Northeastern University, she joined the Alexion team as a consultant and worked to increase the accuracy and transparency of diagnosis support software. In her current role as a Senior Data Scientist, she is continuing that work and expanding the use of genomics information in diagnosis support software.

Narayanan (Ray) Veeraraghavan, PhD, Director of Informatics and Information Technology, Rady Children’s Institute for Genomic Medicine

Ray previously led the CAP/CLIA compliant clinical bioinformatics enterprise for Baylor College of Medicine at the research and commercial genome sequencing centers. He also led the largest ever biomedical compute on Amazon cloud (AWS), for the 10+side CHARGE consortium focused on identifying biomarkers that influence risk in many heart and aging related diseases. This work won the BioIT- World award in 2014 and was highlighted as a case study by AWS for efficient ultra-large scale collaborative genomic analyses.

Michelle Clark, PhD, Statistical Scientist, Rady Children’s Institute for Genomic Medicine

Michelle works on study design, statistical analysis and the interpretation of data. Her research aims to assess the effects of whole genome sequencing on diagnostic rates and clinical management for NICU infants, correlate phenotypes with etiologic diagnoses to identify clinical features which have increased diagnostic utility and evaluate the usefulness of phenotype-disease databases for infant presentations of Mendelian diseases. She received her PhD in biostatistics from the University of California, Los Angeles.

Stephen Kingsmore, DSc, MD, President and Chief Executive Officer, Rady Children’s Institute for Genomic Medicine (RCIGM)

Stephen leads a multi-disciplinary team of scientists, physicians and researchers who are pioneering the use of rapid whole genome sequencing to enable precise diagnoses for critically-ill newborns. Under his direction, RCIGM achieved the Guinness World Record® for the fastest molecular diagnosis using whole genome sequencing in just 19.5 hours. Prior to leading RCIGM, Stephen was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital.

Calum Yacoubian, MD, Partner Success Lead of Lifesciences, Clinithink

Originally a trained and practicing physician in the UK, Calum’s passion for cutting-edge technology at the forefront of medicine led him to his current position at Clinithink, a clinical AI company. He was part of a multidisciplinary team at Clinithink that collaborated with Rady Children’s Hospital and Alexion to create an innovative solution to the problem of extracting a rapid, deep and unbiased phenome from the medical records of patients with rare diseases.

Richard Gain, MD, Senior Clinical Terminologist, Clinithink

After working as a UK General Practitioner for eight years, Richard has specialized in health information technology with the aim of improving the quality and usability of electronic medical records. He now leads the terminology team at Clinithink. Richard was part of a multidisciplinary team at Clinithink that collaborated with Rady Children’s Hospital and Alexion to create an innovative solution to the problem of extracting a rapid, deep and unbiased phenome from the medical records of patients with rare diseases.

Brett Williams, Data Architect, Clinithink

An innovative and creative problem solver, Brett is a data architect with more than 20 years of experience turning clinical data into meaningful information for solutions that deliver results for healthcare and lifescience use cases. He was part of a multidisciplinary team at Clinithink that collaborated with Rady Children’s Hospital and Alexion to create an innovative solution to the problem of extracting a rapid, deep and unbiased phenome from the medical records of patients with rare diseases.

Mary Meskell, Program Director, Clinithink

An outcome-focused senior manager with many years experience of understanding a problem and delivering innovative solutions, Mary was the lead on the multidisciplinary team at Clinithink that collaborated with Rady Children’s Hospital and Alexion to create an innovative solution to the problem of extracting a rapid, deep and unbiased phenome from the medical records of patients with rare diseases.

RARE Champion of Hope – Collaborations in Science and Technology: Alison Frith, Clinical Terminology, Clinithink

At Clinithink, Alison combines her unique background as a medical author and award-winning clinical research nurse in the terminology team. She was part of a multidisciplinary team at Clinithink that collaborated with Rady Children’s Hospital and Alexion to create an innovative solution to the problem of extracting a rapid, deep and unbiased phenome from the medical records of patients with rare diseases.