2017 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, science, collaborative sciences, and medical care and treatment. From the extraordinary list of nominees, esteemed panelists selected the recipients to be honored as RARE Champions of Hope.

Learn more about the 2016 Honorees, here.

Global Genes is pleased to announce the 2017 RARE Champion of Hope Honorees:

RARE Champion of Hope – Teen Advocacy: Taylor Kane, Advocate, Run for ALD

Shortly after her father’s death from the x-linked genetic disease adrenoleukodystrophy (ALD) when she was five years old, Taylor began volunteering for Run for ALD, a non-profit organization founded by her father which raises awareness and money for ALD research. Now, at age 19, Taylor is the Lead Advocate for the organization, having helped raise more than $200,000 for ALD research. In 2013, she successfully lobbied the New Jersey legislature and governor to enact a law requiring the screening of newborns for ALD. Taylor also testified before an advisory committee of the Secretary of Health & Human Services in support of the addition of ALD to the national Recommended Uniform Screening Panel. In 2015, Taylor, who is a genetic carrier of ALD, founded a support group called Y.A.C. (Young ALD Carriers) to unite, educate and empower teenage and young adult female carriers, and to assist them in effecting positive change through advocacy, social media, and the legislative process.

RARE Champion of Hope – Rare Disease Awareness: Claire Wineland, Advocate & Founder, Claire’s Place Foundation

Claire Wineland is an Activist, an Inspirational YouTube personality, and speaker and the Founder of a successful non-profit organization, Claire’s Place Foundation, which provides support to children and families affected by cystic fibrosis, like herself. Claire uses the podium to spread her unique and inspiring outlook on life – she’s a sought after inspirational speaker who has shared her message at leading events across the globe, including PTTOW, the BBYO International Convention (IC) 2016, CES, as well as top universities and companies such as Philips, Zappos and Klick Health. Through her YouTube channel, The Clairity Project, her video series offers insight into her life and strives to break down social barriers surrounding individuals living with illness.

RARE Champion of Hope – Advocacy: Penny Howard, Advocate & Founder, Hope4Harper  

Penny Howard is a daughter, a wife, a mother, and a woman. She serves as a voice for special needs and an Real Scientific Hemp Oil (RSHO – CBD Oil) Advocate. With two undergraduates and masters Penny founded Hope4Harper in honor of her youngest daughter, Harper, who lived through CDKL5 seizure disorder. Her goal is to share hope and love by funding research and awareness for a better quality of life from symptoms associated with disabilities.

 

RARE Champion of Hope – International Advocacy : Anne Lawlor, Chairperson, 22q11 Ireland

Anne is a founding member of the 22q11 Ireland Support Group. The group, set up in 2007 supports families affected by 22q deletion syndrome and strives for the improvement of services for those affected 22qDS. In her leadership position Anne is a driver of real change. She networks extensively with local, national and international researchers, clinicians and mental healthcare professionals. Anne is recognized for her ability to draw people together and is well known both at home and abroad as a true rare disease advocate. Dedicated to raising awareness of 22qDS as a poorly understood and under-recognized condition, Anne completed a Masters in Management of Community and Voluntary Groups and works in a voluntary capacity with 22q 11 Ireland. She lives in Dublin with her daughter Áine, aged 33, who was diagnosed with 22qDS at age 15.

RARE Champion of Hope – Collaboration in Advocacy: Kari Rosbeck, President & CEO, Tuberous Sclerosis Alliance

Kari Luther Rosbeck joined the Tuberous Sclerosis Alliance 16 years ago and became President and CEO in 2007. Under her leadership, the TS Alliance established a comprehensive research program fostering collaboration with industry and academia to move treatments for tuberous sclerosis complex (TSC) forward. Her “Unlock the Cure” strategy focuses on key points along the drug discovery path: Grants Program, Preclinical Consortium, Clinical Research Consortium, TSC Natural History Database, and Biosample Repository. It also serves as a capital campaign, raising nearly $9 million since August 2011. As Executive VP, Kari created an outreach program with 37 volunteer branches and grew volunteers from 90 to 2,000-plus while increasing revenue by 50%. The TS Alliance works collaboratively with the Child Neurology Foundation on Infantile Spasms Action Network and The LAM Foundation on patient education and research conferences. Kari is chair-elect of the ATS-PAR.

RARE Champion of Hope – Innovation: Millan Patel, M.D., Clinical Assistant Professor, Rare Disease Foundation

Millan Patel obtained his Masters in Genetics and M.D. degrees at the University of Alberta and completed residency training in Medical Genetics at the Hospital for Sick Children in Toronto. He is currently appointed as a clinical assistant professor in the Department of Medical Genetics at the University of British Columbia. Millan is a co-founder and Research Director for the Rare Disease Foundation. He is passionate about raising awareness of rare diseases, finding ways to make research on rare diseases more effective and bringing the parent and patient voice more strongly into research funding decision making. As Research Director, he designed and oversees a microgrant program designed to find and fund good ideas that will improve rare disease care within one year. To date, almost 400 microgrants have been distributed to recipients in five countries with results leading to multiple therapies for diseases, global clinical practice changes and improved care for many.

RARE Champion of Hope – Science: Annette Bakker, Ph.D., President & Chief Scientific Officer, Children’s Tumor Foundation

Annette, a Ph.D. in Biochemistry, has leadership experience in both the academic and pharma/biotech research enterprise in Italy, Belgium, France and the USA. Intrigued by the observation that the path from great basic discoveries to equally great clinical benefit is bumpy and often inefficient, she joined the Children’s Tumor Foundation (CTF) in order to try to smooth the path for neurofibromatosis, a rare genetic disorder. The team has built collaborative science networks, an open biobank, a centralized data hub at Sage, a patient registry, KOL networks, etc. Annette feels very strongly about involving the patient voice in every initiative since patients are partners rather than victims. She hopes that the new CTF enterprise will not only benefit patients with NF, but may be of value to the larger Rare Disease Community.  

 

RARE Champion of Hope – Medical Care and Treatment International: Colin Steward, Ph.D., Professor of Paediatric Stem Cell Transplantation & Clinical Lead, National Health Service Barth Syndrome Service, Bristol Royal Hospital for Children, UK

Colin Steward, Ph.D., performs blood and bone marrow stem cell transplants in children with a range of genetic diseases affecting the blood or metabolism. This interest brought him to Barth syndrome (BTHS), a condition which causes dilated cardiomyopathy, low blood neutrophil counts, and bacterial infections. He became inspired by the work of the founders and members of the Barth Syndrome Trust (BST, UK) and Barth Syndrome Foundation (USA) and has worked with them to identify new features of the disease (e.g. fetal loss and stillbirth), causes of under-diagnosis, improved diagnostic techniques, and better knowledge and treatment of the blood problems. In 2010, working with BST, he obtained funding from the National Health Service to develop a national multidisciplinary service, the first of its type for BTHS. He has obtained NIHR funding to run a drug trial with an agent previously used to treat hyperlipidaemia. Colin also acts as Medical Adviser to ALD Life and the Osteopetrosis Support Trust.

RARE Champion of Hope – Medical Care and Treatment: Antonie Kline, M.D., Medical Director, CdLS Foundation and Director of Pediatric Genetics, Greater Baltimore Medical Center, Cornelia de Lange Syndrome Foundation

Antonie Kline, M.D., has been the Medical Director for the Cornelia de Lange Syndrome Foundation since 2001, and has worked with families with this condition since 1993. She provides clinical care for children and adults with CdLS, holds multidisciplinary clinics for adolescents and adults with CdLS, and has helped establish other clinics throughout the country. She is involved in both national and international research related to the condition, and is a member of the Scientific Advisory Committee for CdLS World. She is the Director of Pediatric Genetics at the Harvey Institute for Human Genetics at the Greater Baltimore Medical Center in Baltimore, Md, and has clinical appointments at the Johns Hopkins University School of Medicine and the University of Maryland Medical School. Her degrees are from Wesleyan University (B.A.) and Jefferson Medical College (M.D.), and she completed a residency in Pediatrics and fellowships in Genetics at Jefferson and Johns Hopkins.

RARE Champion of Hope – Advocacy: Sparsh “PURYTHM” Shah, Child Prodigy, Singer, Songwriter and Rapper, Osteogenesis Imperfecta Advocate

Sparsh Shah, a.k.a. “PURHYTHM”, is a 13-year-old prodigy, singer, songwriter and a rapper. He was born with osteogenesis imperfecta, which makes his bones extremely fragile/brittle a hand shake can break his bones. He cannot bear weight on his hands and legs; and hence cannot walk or run like other typical kids. He has had 130+ fractures and multiple rod surgeries so far in his 13 years of life and expects more to come. With a divine voice, brilliant mind, and multiple talents, Sparsh has spread hope and shared his talent by performing in front of over 75 live audiences ranging in size from 100 to 30,000 people. Sparsh and his videos have been featured on NBC, BBC News, BBC Radio, EllenTube, Hollywood Life, Buzzfeed, Storypick, Huffington Post, IndiaTimes, ZeeNews, NDTV, DeccanChronical, Indian Express, DNAIndia, Divyabhaskar, India Abroad and he recently gave his own TED Talk. He was featured on NBC’s Little Big Shots with Steve Harvey and be found on many publications and websites.

RARE Champion of Hope – Advocacy: Kevan Chandler, Ben Duvall, Tom Troyer, and Luke Thompson, We Carry Kevan

In the summer of 2016, Kevan Chandler and his friends, Ben Duvall, Tom Troyer, and Luke Thompson, set out on an adventure together. They visited some specific places throughout Europe that were not exactly wheelchair friendly. Leaving his wheelchair at the Atlanta airport, the team spent three weeks exploring with Kevan in a retrofitted backpack, unhindered by the question of accessibility. As plans for the trip came together, the story spread. People from all over the world reached out, asking about the backpack and travel experience. Whether it was inquiries for help or how to get involved, conversations circulated and a need became clear. There are limitations set on the disabled community, based on social and personal expectations. Kevan and the team saw two things that needed to change: mindsets and opportunities. They are working toward these changes through the start of a nonprofit called We Carry Kevan. The nonprofit aims to inspire both disabled and able-bodied communities to re-imagine accessibility, then empower this change by providing resources and training for collaborative adventures.