2018 RARE Patient Impact Grant Recipients

Congratulations to our 2018 RARE Patient Impact Grant Recipients!

Innovation Grant Recipients

Cystic Fibrosis Research, Inc. 
The Cystic Fibrosis Research, Inc. (CFRI’s) mission is to fund research, provide educational and personal support, and spread awareness of cystic fibrosis. They serve those diagnosed with or affected by cystic fibrosis (CF), a rare life-shortening disease for which there is no cure, including individuals (infants, children, teens, adults) with CF, their parents and caregivers, health care providers, researchers, and medical professionals.
CFRI CF Quality of Life Counseling Program
The CFRI CF Quality of Life Counseling Program focuses on the depressive, anxious and psychosocial issues that are highly prevalent in CF patients (and their parents) and if left untreated are detrimental to the overall health of those living with and/or touched by cystic fibrosis. Through this program, CFRI will be able to have therapists provide 1:1 counseling for a variety of psychosocial, wellbeing, self-esteem, depressive, and other issues that are inherent in the lives of those living with CF and their family/caregivers.

The LAM Foundation  
The LAM Foundation is the global leader in the fight against LAM (lymphangioleiomyomatosis), a rare lung disease that strikes young women, often in the prime of their lives. The Foundation’s mission is to urgently seek safe and effective treatments, and ultimately a cure, for lymphangioleiomyomatosis (LAM) through advocacy and the funding of promising research. We are dedicated to serving the scientific, medical and patient communities by offering information, resources and a worldwide network of hope and support.
Circle of Hope Transplant Support Program
Through the Circle of Hope Transplant Support Program, LAM patients who have been through the transplant process will be able to guide and educate potential transplant candidates while providing hope and support. The goal of this program is to educate LAM patients about the transplant process and the importance of tissue donation.

VHL Alliance  
The VHL Alliance (VHLA) is dedicated to research, education, and support to improve awareness, diagnosis, treatment, and quality of life for those affected by VHL.
Health Wellness Coaching Training
The Health Wellness Coaching Training program is designed to help participants coach, engage, and empathize with patients with the goal of empowering patients to actively manage their health by making educated decisions. At the same time, through this program, participants will learn skills to enhance their own lives putting them in a better position to meet the needs of the patient.

Support Grant Recipients 

CDG CARE
CDG CARE (Community Alliance and Resource Exchange) was founded by parents seeking information and support for a group of disorders known as Congenital Disorders of Glycosylation (CDG). CDG CARE’s mission is to promote greater awareness and understanding of CDG, to provide information and support to families affected by CDG, and to advocate for scientific research to advance the diagnosis and treatment of CDG.
2018 CDG Scientific and Family Conference- Therapeutic Day Care
The objective of the 2018 CDG Scientific & Family Conference is to facilitate the meeting and collaboration of medical professionals and families in order to share knowledge and experience, and discuss common issues of patients living with CDG. With the support of Global Genes, CDG CARE will be able to provide a 3-day on-site therapeutic daycare program for both children and young adults affected by CDG. The program will comprise of qualified clinical or therapeutic volunteers and include specialists in the areas of specific need for CDG children, who will implement a local program “Movement, Muscles and Messes” to the children.

Chordoma Foundation  
The Chordoma Foundation was started with the mission of improving the lives of those affected by chordoma and leading the search for a cure. They provide a suite of patient services designed to help patients navigate their treatment, and address the many practical and emotional challenges they face along the way, including work with healthcare providers to improve the quality of the care provided to chordoma patients and proactively orchestrate and fund research to accelerate the development of new treatments.
Expert Answers Webinar Series
With the support from Global Genes, The Chordoma Foundation will support the development of an educational “Expert Answers Webinar Series”. The live and on-demand web-based education series will feature a unique topic presented by a subject matter expert or experts, including: physicians, researchers, patients, community leaders, and other relevant professionals. Through the webinar series The Chordoma Foundation will provide tools to address the significant challenges faced by chordoma community members and information about the latest advances in treatments and clinical research.

cureCADASIL 
cureCADASIL is dedicated to patients and their families affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The mission of cureCADASIL is to raise awareness of CADASIL, ensuring it will be universally recognized and understood by the medical community, enabling patients to be correctly diagnosed. They aim to unite patients and the medical community toward the common goal of treatments and, ultimately a cure for this rare genetic disease, by promoting Communication, Advocacy, Research, and Education.
CADASIL Connection Webinar Series and new CADASIL Care Webinar
CADASIL Connection is a webinar speaker series of researchers and clinicians from the CADASIL community invited to present their work in CADASIL. With the help of Global Genes, cureCADASIL will be able to educate researchers, clinicians, and patients on current research in CADASIL. Additionally, with the support of this grant cureCADASIL will be able to launch CADASIL Care Webinar series; a patient education webinar series dedicated to medical and genetic education topics for CADASIL families

Histiocytosis Association  
The Histiocytosis Association is a rare community on a mission to bridge the gap between medical and patient communities by providing emotional and educational support to families, raising awareness and funding research efforts.
Educational Video Series
With the grant support, the Histiocytosis Association will update and expand their Educational Video Series. The education video series provides information about specific types of histiocytosis and the most effective treatment options available which provides critical support to patients and families that once felt alone who now have the strength and knowledge to continue the fight.

Noonan Syndrome Foundation 
The Noonan Syndrome Foundation is an advocacy organization that helps support those affected by Noonan syndrome. Their mission is to Support, Educate, and Advocate for those with Noonan syndrome.
Noonan Syndrome Foundation Conference
The NSF Conference is an opportunity to educate individuals about the different aspects of Noonan syndrome and the latest knowledge in the field of Noonan syndrome and Rasopathies research. With the support of Global Genes, the Noonan Syndrome Foundation will be able to offer onsite day care and planned social activities to foster lasting friendships and support among those affected by noonan syndrome.

Phelan-McDermid Syndrome Foundation
The Phelan-McDermid Syndrome Foundation (PMSF) is a patient advocacy group representing more than 1500 families of individuals with Phelan-McDermid Syndrome (PMS). Their mission is to improve the quality of life of people affected by PMS by providing family support, accelerating research and raising awareness.
PMSF Angels End of Life Toolkit
The PMSF Angels End of Life Toolkit will provide a focal point composed of support resources to prepare families at the end of their PMS child’s life. While a child’s potential death is a difficult issue to discuss, the PMSF Angels End of Life Toolkit will provide tangible information while the patient is alive and immediate value when a death occurs. The PMSF Angels End of Life will include a family resource guide, a PMS angels support group, Voices of Support multimedia materials and a foundation level support program.

The Progeria Research Foundation  
The Progeria Research Foundation’s mission is to find treatments and a cure for progeria and its aging-related disorders.
Progeria Treatment Guidelines Handbook – 2nd Edition
The Progeria Handbook provides easy access to information ranging from basic health facts and daily care recommendations to detailed medical treatment guidelines. With the funded help of Global Genes, the Progeria Research Foundation will be able to update the handbook to include the 2012 discovery of the first treatment for Progeria, new care recommendations, new skin findings and new protocols for skeletal and ocular findings.

Translational Genomics Research Institute  
The Center for Rare Childhood Disorders (C4RCD) at the Translational Genomics Research Institute’s (TGen) mission is to better diagnose, treat and ultimately cure rare childhood genetic disorders.
TGen’s Center for Rare Childhood Disorders applies the latest tools of genomic medicine to provide answers for parents seeking to identify the disease or disorder affecting their child.
Hispanic and Latino Families Outreach
The C4RCD hosts family events each year which bring families together in an atmosphere of support and community where an update on the C4RCD’s research is provided. In effort to accommodate the lower socioeconomic population and non-English speaking families and remove the barriers that prevent these families from attending, the grant funding will be able to fund travel expenses to the family event, translational services for education material to be presented at the family event and a bilingual medical translator to help the language barrier at the event. These will all be in effort to increase the outreach to the Hispanic and Latino families and better incorporating this underserved population into C4RCD family events.

Usher Syndrome Coalition  
The Usher Syndrome Coalition is raising awareness and accelerating research for usher syndrome while providing information and support to individuals and families affected by this rare disease.
Usher Syndrome in American Sign Language (ASL)
The Usher Syndrome Coalition launched a new educational video series called “USH Talks.” These video podcasts deliver the latest in research developments directly to those affected by usher syndrome, the most common genetic cause of combined deafness and blindness. The goal of USH Talks is to engage and inform the usher syndrome community, foster hope, and increase participation in research. USH Talks are accessible using assistive technology and are fully captioned. With this funding the Usher Syndrome Coalition will be able to provide the current scientific information on the rare disease of usher syndrome in American Sign Language (ASL).