2016 RARE Champion Of Hope Honorees

Over 350 individuals and organizations worldwide were nominated by their peers for a RARE Champion of Hope award for their notable efforts in rare disease advocacy, science, collaborative sciences, and medical care and treatment. From the extraordinary list of nominees, members from the Global Genes Board of Directors, Medical and Science Advisory Board, and other key partners selected the recipients to be honored at the 5th annual Tribute events.

Learn more about last year’s Honorees, here 

 

Global Genes is pleased to announce the 2016 RARE Champion of Hope Honorees:

RARE Champion of Hope and Henri Termeer Lifetime Achievement Award: Philip Reilly, M.D., J.D., Author

Phil Reilly joined Third Rock Ventures in 2008 to discover, launch and build companies pursuing breakthrough treatments for rare genetic diseases. He has played integral roles in several portfolio companies as co-founder and former interim CMO of Voyager Therapeutics, scientific advisory board member and former interim CMO of bluebird bio, co-founder and board member of Edimer, co-founder and former board member of Lotus Tissue Repair (sold to Shire). He has authored and co-authored more than 100 articles in scholarly journals and has published seven books including most recently “Orphan: The Quest to Save Children with Rare Genetic Disorders.” Phil has held teaching positions at Tufts University School of Medicine and Harvard Medical School.

RARE Champion of Hope – Sam and Alex Kimura, Advocates & Founders, Sharing America’s Marrow – SAM

Sam Kimura is a fervent advocate of bone marrow donation and inspires people through her story. When Sam was seventeen years old she was diagnosed with severe aplastic anemia, a rare blood disorder in which bone marrow does not make enough blood cells for the body. The treatment involves a bone marrow transplant and Sam’s big sister Alex rose to the occasion, but when the results came back she wasn’t a match. They refused to give up and knew they had to create a Plan B. With the support of their close friend Taylor Shorten, Sam and Alex embarked on a mission to find a match and enlist new donors along the way. The journey began with the creation of SAM – Sharing America’s Marrow, Inc. Through the website www.sharingamericasmarrow.com, Sam was able to share her experience on a larger platform and develop a bone marrow registry for potential donors. With Alex and Taylor at her side, the three young women drove a cherry red van through 50 states to recruit donors and raise awareness about this important cause. Just last year, the girls drove 24,055 miles to register 23,038 potential donors, and found 257 matches for patients struggling with marrow disorders.

RARE Champion of Hope – Advocacy: Gina Szajnuk, Co-Founder & Executive Director, Rare & Undiagnosed Network  

Gina started Rare & Undiagnosed Network (RUN) in 2014 after trying to find answers for her three rare and undiagnosed children. Gina continuously fights for the rare community with her role as Chair of Utah Rare and making Utah the #1 state for Rare Disease Day in 2016. She offered a free symposium through the University of Utah and organized the Utah Rare State House event. Gina works around the clock to build a network of rare advocates, geneticists, researchers, specialists, and volunteers who can come together under one platform.

RARE Champion of Hope – Advocacy: Emily Kramer-Golinkoff, Co-Founder, Emily’s Entourage

Emily co-founded Emily’s Entourage (EE) in 2011 to find a cure for rare forms of Cystic Fibrosis (CF), a disease that she was diagnosed with at six weeks old. In just four years, EE has raised over $2 million for the CF community. She has presented at numerous health and medical events including Stanford University’s Medicine X Conference and contributed a Journal of General Medicine article – all while battling her own illness. Though Emily has her own battles with breathing treatments, shots for CF related diabetes, and taking over 30 pills a day, she also tirelessly works as a patient advocate to change the paradigm of health care for all patients.

RARE Champions of Hope – International Advocacy: Elisabeth Linton, Co-Founder, The Sanfilippo Children’s Research Foundation

Elisabeth Linton has made a positive impact in the rare disease community with significant contributions to medical science and support to families all around the world with the creation of The Sanafilippo Children’s Research Foundation (SCRF). The foundation began when her daughter, Elisa, was diagnosed with Sanfilippo syndrome at age four, in hopes to raise money to fund research and hopefully find a cure in Elisa’s lifetime. SCRF and Elisabeth have raised over $7 million in support of a wide range projects around the globe, brought research to the threshold of clinical trials, and raised public awareness of Sanfilippo by organizing charitable gala fundraisers, golf tournaments, variety of musical concerts, and many more events. Elisabeth has received many honors and recognitions in her pursuit of awareness including North York Urban Hero Award (2013) and Finalist of Walmart’s Mom of the Year Award (2013).

RARE Champions of Hope – Teen Advocacy: Peter Dankelson, #ChooseKIND Advocate, Public Speaker, Children’s Craniofacial Association

Peter is a high school student with the goal to educate students across the country about craniofacial conditions and encourage them to Choose Kind. Born with multiple birth defects, which resulted in a diagnosis of Goldenhar Syndrome also known as Oculo-Auriculo-Vertebral Syndrome (OAVS), Peter inspires students and young adults by visiting classrooms and giving speeches all over the nation. Peter has been actively involved as a patient advocate at Children’s Hospital of Michigan in Detroit, he has been featured in the Foundation’s magazine, conducted television interviews, given presentations at Grand Rounds, and attended Foundation events as a Patient Ambassador.

RARE Champions of Hope – Legacy in Advocacy: Nancy Harris, Rare Disease Advocate Leader

Nancy Harris has worked in the field of Patient Advocacy for more that 40 years.  Her son had an profoundly disabling  neurological disorder that impacted the entire family. Searching for treatments, services, understanding and anything helpful was almost impossible then.  Through this, and because of this journey, Nancy helped to establish a non profit organization, worked as a consultant to several pharmaceutical companies and serves on various boards, NORD, WE MOVE, and Child Neurology Foundation to name a few.  Nancy remains committed to educating the public and the medical community about rare disorders and reminding them that no patient should be overlooked.  

 

RARE Champions of Hope – Medical Care and Treatment: Dr. Elif Oral (FPLD), Assoc. Prof of Medicine Director, Post-Bariatric Surgery Clinic, Division of Endrocrinology and Metabolism
Brehm Center for Diabetes Department of Internal Medicine University of Michigan

Dr. Elif Oral will be honored for her work in the development and implementation of clinical trials of Leptin therapy for various types of Families Partial Lipodystrophy (FPLD) and other lipodystrophies. She has worked with FPLD patients for many years and her clinical trials have had life changing effects on many of her patients’ health and overall wellbeing.

RARE Champions of Hope – Medical Care and Treatment International: Dr. Carmencita Padilla, Chancellor, University of the Philippines Manila

Dr. Carmencita Padilla’s remarkable contribution to the rare disease community has made her a beacon of hope for many in the Philippines. She is instrumental in creating genetic services at the Phillippine General Hospital, which later became the Institute of Human Genetics of the National Institutes of Health-UP Manila. She introduced newborn screening for optimal health in the Phillippines and is responsible for the Rare Disease Act of 2004. Dr. Padilla is also Founding Chairman of the Philippine Society for Orphan Disorder and is again instrumental in the passage of the Rare Disease Day Act of the Phillippines enacted March 2016, after 7 years of deliberating with 3 congresses. Her innovations are influential in providing all aspects of support and awareness about rare disease in the country and beyond.

RARE Champion of Hope – Science: Dr. Anne Calof, Ph.D., Professor, Dept of Anatomy & Neurobiology, Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine and Dr. Arthur D. Lander, M.D., Ph.D., Director of Center for Complex Biological Systems & Professor, UCI Department of Developmental and Cell Biology

Dr. Calof together with her husband and collaborator Dr. Arthur D. Lander became involved with the Corneila de Lange Syndrome (CdLS) Foundation in 2000 when their daughter, Isabel, was diagnosed with CdLS. Motivated by their daughters diagnoses, they worked with other researchers and were instrumental in the discovery of the NIPBL gene, the gene whose mutation is responsible for the majority of cases of CdLS. Their remarkable research on A Mouse Model CdLS and studies with zebrafish continues to further knowledge of the disease and how the manifestations of the disease can be better diagnosed and treated. Dr. Calof and Dr. Lander continue to engage new students, young professionals, and awareness to impact research and spread knowledge in the medical and scientific community.

RARE Champion of Hope – Science International: Dr. Illana Gozes, Professor, Tel-Aviv University

Dr. Illana Gozes discovered a mutation in the ADNP gene that leads to a genetic syndrome know as Helsmoortal-Van Der AA syndrome. Activity-dependent neuroprotective protein (ADNP) is deregulated in Alzheimer’s disease (AD) and in schizophrenia and mutated in autism. With her commitment to research and new therapies, Dr. Gozes continues to help many undiagnosed patients receive the therapies and tests needed to be happy, healthy, and diagnosed.

RARE Champions of Hope – Collaborations in Advocacy: Kelly Ranallo, Founder/President, Turner Syndrome Global Alliance and RARE KC

When Kelly Ranallo’s daughter was diagnosed with Turner Syndrome, Kelly decided to take action and lead her local Kansas City Turner Syndrome Chapter family support group. She realized that she could expand her impact to those with Turner Syndrome around the globe and then launched the Turner Syndrome Global Alliance in hopes to find answers for her daughter and all of those impacted by this debilitating disease. In 2015, Kelly with other rare disease stakeholders in the Kansas City community led the creation and co-founding of the RARE KC Project, a strategy to increase awareness, resources and support for families impacted by rare disease in the Kansas City area. In February of 2016 Kelly collaborated with TSGA, Global Genes, Kansas University, Children’s Mercy Hospital, Stowers Institute for Medical Research, Cystic Fibrosis, Medtrak, Faster Cures, and many other participants to host the first ever RARE KC Town Hall at the Kauffman Foundation. The initiative brought together community leaders, local and national researchers, nationally recognized hospitals, state service program leaders, therapists, specialists, advocates, and families. This innovative collaboration has positioned Kansas City as leaders in research, coordinated care, and support for rare disease.

RARE Champions of Hope – Collaborations in Science and Technology: Dr. Steven Walkley, Dr. Daniel Ory, Dr. Charles Vite, Dr. Cristin Davidson, Hide and Seek Foundation for Lysosomal Disease Research, Dana’s Angels Research Trust, Race for Adam, Hadley Hope, Fight NPC (SOAR-NPC)

Support of Accelerated Research for Niemann-Pick type C disease (SOAR-NPC) is a collaboration created by parents and scientists as a grassroots response to the absence of treatments for Niemann-Pick Type C disease (NPC). SOAR – NPC is innovative in the openness with which scientists share data with supporting family foundations for a mutually beneficial relationship. The SOAR scientific collaborative is comprised of investigators from leading institutions where NPC research is conducted, including the Albert Einstein College of Medicine, Washington University of St. Louis  and the University of Pennsylvania.  Collaborators work closely with the NIH and other funders to leverage research investments.  By focusing on compounds that do not need do not require new discovery efforts, SOAR has helped shepherd a trial to test a treatment that could slow the progression of NPC. That trial now has a commercial biotech company sponsor.

 

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