Meet Your Neighbor Archive
October 1, 2013: National Library of Medicine
Located on the NIH campus, the National Library of Medicine is a biomedical library and the center for information innovation. It is a source of a wealth of knowledge on various subjects and topics that can be used to advance access to health information across communities, and support research and bioinformatic training.
September 24, 2013: Office of Public Health Genomics (OPHG)
A branch within the CDC, the Office of Public Health Genomics (OPHG) uses genetics to achieve population health benefits. The field of public health genomics is quite new and focuses on translating genomic research into actions that can prevent disease and improve everyone's health. OPHG was created in 1997 and serves various organizations at the local, state, and national level, from governmental agencies to external partners. This office has implemented several strategies to try and integrate genomics into healthcare and disease prevention.
September 17, 2013: American College of Medical Genetics (ACMG)
The American College of Medical Genetics (ACMG) shares a special connection with Genetic Alliance: Genetic Alliance founder Joan Weiss was also a founding member of ACMG, in 1991. The ACMG was created to give national representation those who provide genetic services, as well as patients with genetic disorders. A staff of seven based in Bethesda, Maryland serve the membership of 1400 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors, and other health care professionals, all committed to the practice of medical genetics.
September 10, 2013: Genomics Forum
Celebrating their fifth anniversary, the Genomics Forum is a group of individuals from various sectors of the public health community who use their influence to contribute to the public health vision that everyone have access to basic healthcare. Genomics Forum of the American Public Health Association (APHA) realizes the growing influence of genetics and its relevance to every day life. It works to improve public understanding of basic genomic principles and how it relates to health, as well as increase awareness and knowledge of genetic services.
September 3, 2013: FasterCures
FasterCures is a center for advancing medical solutions at the Milken Institute. Established in 2003, FasterCures works to improve the medical research system by accelerating the transformation of basic science research to practical medical solutions. They have developed several programs, such as Partnering for Cures, TRAIN, and Patients Helping Doctors to foster collaborations across all sectors, increase patient engagement in research, ensure the medical system is patient focused and patient driven, improve the research process to facilitate the efficient development of therapies, and enhance access to capital to support medical research.
August 26, 2013: Patient-Centered Primary Care Collaborative (PCPCC)
Founded in 2006, the Patient-Centered Primary Care Collaborative (PCPCC) is dedicated to advancing an effective and efficient health system built on a strong foundation of primary care and the patient-centered medical home (PCMH). The PCPCC achieves its mission through the work of our five Stakeholder Centers, led by experts and thought leaders who are dedicated to transforming the U.S. health care system through delivery reform, payment reform, patient engagement, and employee benefit redesign. Today, PCPCC’s membership represents more than 1,000 medical home stakeholders and supporters throughout the U.S.
August 19, 2013: National Initiative for Children’s Healthcare Quality
NICHQ (the National Initiative for Children’s Healthcare Quality) is an independent, nonprofit organization working for more than a decade to make children’s health and healthcare better through quality improvement. NICHQ helps healthcare professionals and delivery organizations, foundations, government agencies, and community organizations make meaningful and sustainable system improvements so the children they serve can achieve their optimal health.
August 12, 2013: Blog Talk Radio
BlogTalkRadio enables hosts to interact with thousands of listeners who want to share their insights and opinions. It is the platform of choice for people who want to participate in or listen to a good conversation.
The Special Needs Parent Chat series on BlogTalkRadio is hosted by Bella's House Community News, a family-owned that helps families with children with special needs connect to resources and each other. The short clip series shares the joys and challenges of raising a child with special needs with guests that are professionals in the areas of special education, law, estate planning, respite, and more. Recent episodes addressed questions about God in special needs families, the expense of adaptive toys, and strategies for staying positive parenting kids with special needs.
August 5, 2013: Bella's House
Bella’s House, founded in 2009, is a family-owned group that strives to help families of children with special needs connect with each other and find the resources they need. Originally, Bella’s House produced a monthly magazine, but in 2012 it moved strictly to an online format. The website provides links to relevant news articles and also offers helpful tips and advice on everything from how to find the best sensory-friendly toys to how to stay positive while raising children with special needs. Bella’s House also offers listings of events, special school districts, and workshops in the Houston area that are of interest to families of children with special needs.
July 30, 2013: EP (Exceptional Parent)
EP (Exceptional Parent) is an award-winning publishing and communications company that provides practical advice, emotional support, and the most up-to-date educational information for families of children and adults with disabilities and special healthcare needs as well as to the physicians, allied health care professionals, and educational professionals who are involved in their care and development. EP uses a multi-media approach to disseminate information through the following methods: its monthly print publication, EP (Exceptional Parent) magazine, in which Genetic Alliance has a monthly column; a comprehensive Resource Guide; its Web site (eparent.com); clinical custom communications projects; online, interactive CME-accredited seminars and teleconferences on a wide range of special needs topics; and an international Conference known as the World Congress on Disabilities.
July 23, 2013: Geisinger Health System Genomic Medicine Institute
The Geisinger Health System Genomic Medicine Institute conducts innovative research in genetics, genomics, and family history to enhance the quality of life and improve healthcare value for individuals and families in central and northeastern Pennsylvania. They offer genetic services to individuals of all ages, from prenatal to pediatric to adult cancer genetics. Check out their family health history campaign, Individualizing Medicine One Family at a Time.
www.geisinger.org/research/centers_departments/genomics/index.html
July 16, 2013: FDA Patient Network
The FDA Patient Network works to bring the unique perspective of patients, family members, caregivers, and patient advocates to the decision-making processes of the US Food and Drug Administration. Through the Patient Network, you can learn more about FDA and how it works, provide input in decisions about new or current medical products, and talk with FDA experts about issues and concerns that are important to you. The Patient Network was created in 2012 as part of the Office of Health and Constituent Affairs (OHCA).
July 8, 2013: Parent to Parent USA
For more than 36 years, Parent to Parent programs across the country have been providing emotional and informational support to families of children who have special needs. Through a one-to-one "match," experienced support parents provide emotional support to families and assist them in finding information and resources. P2P programs are committed to listening and learning from families and developing an array of services and supports in response to family identified needs. The strength of Parent to Parent comes directly from the parents who dedicate themselves to its continuing success.
July 2, 2013: EspeRare
In collaboration with patient groups and other key stakeholders, EspeRare uncovers the potential of existing drugs to address severe therapeutic unmet needs in rare diseases. Through the identification and validation of these therapeutic opportunities, EspeRare addresses the translational gap in rare disease drug development. The Foundation was established this year to address the medical needs of rare diseases patients, ultimately alleviating the healthcare burden of their conditions.
June 24, 2013: Family Voices
During the past 30 or so years, life has changed irrevocably for children and youth with special health care needs. Family Voices traces its roots back to those first courageous families who disagreed with the physician who counseled an institution for their son; or who insisted on staying with their hospitalized daughter; or who convinced the neighborhood school to enroll their child. Experienced families listen and answer new families’ questions about a new diagnosis, help them find an accommodating dentist, or assist in negotiations with insurance companies. Family Voices has become a national clearinghouse of information and support, and their excellent materials and electronic communications only underpin the most important connection between families: face-to-face interaction.
June 17, 2013: Private Access
Founded in 2006, Private Access, Inc. develops web-based applications that make it safe for individuals to allow confidential information, such as personal medical records, to be accessible over the Internet. Private Access' applications allow individuals to control who sees their personal health information; help researchers find qualified clinical trials and research study subjects; help nonprofit organizations identify meaningful trials to share with others; and offer solutions for managing medical records requests for both patients and providers. Private Access partnered with Genetic Alliance on Reg4ALL, which offers a faster and more cost-effective way for researchers to connect with patients with the goal of finding causes of and treatments for chronic diseases.
June 10, 2013: Invitae
Invitae is a group of scientists, engineers, and medical professionals working together to make clinical genetic testing accessible and affordable. InVitae provides comprehensive, rapid, and affordable genome sequencing with clinically-relevant interpretations of genomic data. Their mission is to aggregate the world’s genetic tests into a single assay for less than the cost of most single tests today. They currently offer 264 conditions, customizable by the healthcare provider, for $1500 with a two-week sample-to-results turnaround time.
June 3, 2013: Inspire
Inspire connects patients, families, friends, caregivers, and health professionals for health and wellness support. Join groups devoted to particular conditions or general health categories. For example, the Genetic Alliance Rare Disease & Genetic Conditions Support Community offers support, inspiration, and a discussion forum for the rare disease community and overall Inspire network.
May 27, 2013: Intermountain Healthcare
Intermountain Healthcare is an internationally-recognized, nonprofit system of 22 hospitals; a Medical Group with more than 185 physician clinics; and an affiliated health insurance company, SelectHealth. Intermountain's 33,000 employees serve patients and plan members in Utah and southeastern Idaho. Providing excellent care of the highest quality at an affordable cost is at the heart of their mission. Join Intermountain and Genetic Alliance May 30-31 in Salt Lake City for the Powerful Patient Data Summit: Genomics and Family Health History in Health IT.
May 20, 2013: The Power of Two
Everyone in the genetic disorder community knows that it takes power to fight a genetic disease. Twin sisters with cystic fibrosis and double lung transplant recipients Ana Stenzel and Isa Stenzel Byrnes show what power can do in the documentary film “The Power Of Two.” Called “compelling” and “poetic” by the Wall Street Journal, and an “inspiring triumph” by Golden Globe® nominated actor Jack Black, this winner of ten film festival awards has entertained, educated and inspired audiences globally. Starting May 22, “The Power Of Two” is coming to TV across the US! The film will screen on the satellite Link TV network nationally, KCET public television in Southern and Central California, and online as part of a two-hour special presentation from KCETLink featuring the full length feature film and brand new footage. For broadcast dates/times, exclusive clips, blog posts, resources on organ donation and cystic fibrosis, and to watch the film online, go to www.ThePowerOfTwo.tv.
May 13, 2013: National Center on Health, Physical Activity and Disability (NCHPAD)
The National Center on Health, Physical Activity and Disability (NCHPAD) focuses on health promotion and obesity management among people with disabilities. Over the past 13 years, the Center has collaborated with the nation’s leading health advocacy and disability organizations to build inclusion and integration into existing programs and initiatives. NCHPAD develops leadership through the formation of local Inclusive Health Coalitions (IHCs); provides individualized information, referral, and consultation services to people with disabilities; promotes community and individual behavior change through a health communications network; develops guidelines to promote inclusive policies in physical activity, nutrition, and lifestyle weight management; and develops a comprehensive training initiative that educates disability and non-disability service providers.
May 6, 2013: Association of Public Health Laboratories (APHL)
The Association of Public Health Laboratories (APHL) works to strengthen laboratories serving the public's health in the US and abroad. By promoting effective programs and public policy, APHL strives to provide public health laboratories with the resources to protect the health of US residents and to prevent and control disease globally. APHL’s core membership includes public health, environmental, and agricultural laboratories. Representatives from federal agencies, nonprofit organizations, and corporations as well as interested individuals also participate in the association. Visit APHL and Genetic Alliance (booth #303) this week at the 2013 Joint Meeting of the Newborn Screening & Genetic Testing Symposium and International Society for Neonatal Screening in Atlanta, GA!
April 29, 2013: World Health Organization Initiative on Genomics & Public Health (IGPH)
Establihed in 2010, the World Health Organization Initiative on Genomics & Public Health (IGPH) provides information and facilitates the application of genomics-based knowledge and technologies in both clinical and public health practice. IGPH aims to promote universal access to genomics information and to strengthen the capacity for research and application of genomics, especially in developing countries, by establishing norms and standards. Current projects include the Grand Challenges in Genomics for Public Health in Developing Countries, which identifies the top 10 priorities for the effective development and application of genomics-based interventions for public health improvement in developing countries. This initiative is WHO-wide and collaborates with external organizations and partners.
April 22, 2013: PA Breast Cancer Coalition (PBCC)
The PA Breast Cancer Coalition (PBCC) was formed in 1993 by a dedicated, active group of breast cancer survivors.The PBCC is has a board of directors, a staff of eight, and a network of volunteers across Pennsylvania with one common mission: to find a cure for breast cancer. PBCC exists to help the 12,000 women in Pennsylvania who will be diagnosed with breast cancer this year, to support the families of the 2,200 women who will die from it, and to serve as a resource for the hundreds of thousands of women currently living with the disease. The organization offers statewide educational programming, legislative advocacy, and breast cancer research grants.
April 15, 2013: "Facing Fabry Together"
"Facing Fabry Together" explores the lives of four families living with Fabry disease, an inherited condition that affects the way certain chemicals are processed in the body. The film crew traveled to Canada, Germany, Brazil, France, and the United States to document the challenges and triumphs of these remarkable families, who share their stories to increase awareness and understanding about this rare disease. The film also includes informational, inspiring, and enlightening insights from two leading medical experts. April is International Fabry Awareness Month; for more information and resources, visit www.fabrycommunity.com and www.genzymerarecommunity.com.
April 8, 2013: University of Pennsylvania Center for the Integration of Genetic Healthcare Technologies (Penn CIGHT)
The University of Pennsylvania Center for the Integration of Genetic Healthcare Technologies (Penn CIGHT) is one of six national Centers of Excellence for Research on the Ethical, Legal, and Social Implications (ELSI) of genetics and the human genome. The goal of the Penn CIGHT is to develop tools that will help consumers, professionals, policy makers and insurers understand and cope with the scope of certainty and uncertainty that the application of genetic technologies engender. The organization aims to define these issues better and offer suggestions for reducing the problems of uncertainty. The work of the center is conducted by teams of experts representing a broad range of disciplines, such as medicine, bioethics, law, behavioral and social sciences, clinical research, public policy, economics, and genetic and genomic research.
April 1, 2013: PMG Awareness
PMG Awareness focuses on the care of people with polymicrogyria. The families, caregivers, and medical professionals that are part of this international nonprofit promote awareness, diagnosis, and treatment of PMG through education, research, advocacy, and support for individuals with the condition, their families, and other concerned parties. The organization strives to provide a comprehensive overview of PMG: its effects; current information on treatments, drugs, and potential procedures; financial and social resources; leading medical centers and professionals, including therapists and alternative therapies; assistance with planning for the care of a child with special needs; and where to find support groups, online support groups, and other organizations that offer help with other illness that might accompany the diagnosis of PMG.
March 26, 2013: Genetics in Primary Care Institute (GPCI)
The Genetics in Primary Care Institute (GPCI) aims to increase primary care provider (PCP) knowledge and skills in providing genetic-based services. GPCI is funded by the Health Resources and Services Administration to work with medical home PCPs in the context of a medical home to enhance such things as understanding of basic genetic principles, collection and interpretation of family history, education regarding new and emerging technologies and tests, navigation of ethical considerations regarding genetics-related issues, and integration of genetic medicine into health information technology. The project continuously seeks to take the advances in genetics over the last fifty years, especially those in the last decade since the completion of the Human Genome Project, and make them relevant to the practice of primary care pediatrics.
March 19, 2013: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) is a major funder of genetic research to explore the disease mechanisms underlying both common and rare diseases, including those affecting the endocrine, digestive, renal, urologic, and hematologic systems. The NIDDK Central Data Repositories warehouse clinical, laboratory, genetic and biologic samples and data from NIDDK-funded research. The repository collection is easy to search using a series of publicly available search tools. Samples and data can be requested for use in further research through an online request process. The CDR now houses data from over seven million biologic samples representing two million subjects in nearly 100 studies. They regularly add new samples and data; visit https://www.niddkrepository.org to discover research funded by NIDDK in areas including diabetes, obesity, liver and kidney, urologic and gastrointestinal disease.
March 12, 2013: Myotonic Dystrophy Foundation
The Myotonic Dystrophy Foundation mission is focused on care and a cure; enhancing the lives of people living with myotonic dystrophy and accelerating research focused on finding treatments and a cure. MDF executes a number of outreach, advocacy, research and education initiatives to achieve its mission, the most current of which include launching an online, patient-driven registry on Rare Disease Day 2013, investment in the first DM clinical research network, and the award of fellowships for post-doctoral students engaged in DM research. MDF delivers an ongoing array of community outreach and support initiatives, including a Warmline, the web-based Video Academy, and the MDF Annual Conference occurring November 8th and 9th in Houston, TX.
March 5, 2013: Reg4ALL
Reg4ALL is a community of people storing and sharing information about themselves and their health in order to find ways to accelerate research and improve health. You begin by taking simple surveys about your health and creating privacy settings that reflect exactly how comfortable you are with sharing your answers. Based on those privacy settings, support and other helpful resources can reach out to you. You can even let researchers access that information – allowing you to contribute to the creation of medical breakthroughs and spark health innovation for all. Add your piece to the puzzle at Reg4ALL.org.
February 25, 2013: Sickle Cell Disease Association of America
Established in 1982, Sickle Cell Disease Association of America serves as a resource center for the psychosocial and social service needs of individuals affected by sickle cell disease. SCDAA develops, manages, and allocates resources from hospitals, charitable organizations, community-based organizations, and social service agencies. Alone and in partnership with hospital support groups, they provide counseling, advocacy, transportation for clients to their clinic appointments, newborn screening follow-up, community outreach, and education.
February 18, 2013: Community-Campus Partnerships for Health
Since 1996, Community-Campus Partnerships for Health has made it their mission to promote health equality and social justice through partnerships between communities and academic institutions. CCPH's 2000+ members believe in the fundamental need for healthier communities and the central role that communities play in their own well-being. Their driving force is the power of shared ideas, resources, and experiences that help people create healthier communities. CCPH is currently working to transform university policies and practices to support and advance community-engaged scholarship. CCPH is also focused on ensuring that the results and lessons learned from community-engaged scholarship are freely and widely disseminated and used.
February 11, 2013: CFC International
Founded in 1999, CFC International helps individuals and families cope with the challenges of raising a child with cardiofaciocutaneous (CFC) syndrome. The organization acts as a clearinghouse of information on all aspects of the condition; in addition to their website, they publish in-depth newsletters and a CFC Parents’ Guide. Since the start, CFC International has successfully coordinated with CFC families and the medical community for a biannual conference that includes medical exams, research updates, and the opportunity to network with other families affected by CFC syndrome. You can join them at their next conference July 31 - August 3, 2013, in Orlando, FL.
February 4 2013: Inflammatory Breast Cancer (IBC) Research Foundation
Over more than a decade, the Inflammatory Breast Cancer (IBC) Research Foundation has been committed to identifying the cause(s) of inflammatory breast cancer and improving diagnosis and treatment. The Foundation is currently working with the National Comprehensive Cancer Network to develop treatment guidelines and improved screening guidelines for IBC. As a partner (with Genetic Alliance and two other groups) on Registries for All Diseases (Reg4ALL), the Foundation won the Sanofi Collaborate|Activate Challenge with a proposal to create a comprehensive, crowdsourced, cross-disease registry to help accelerate translational research for over 1,000 diseases.
January 21, 2013: National Center for Hearing Assessment and Management
The National Center for Hearing Assessment and Management serves as the National Resource Center for the implementation and improvement of comprehensive and effective Early Hearing Detection and Intervention (EHDI) systems. The center aims to ensure that all infants and toddlers with hearing loss are identified as early as possible through effective and cost efficient newborn hearing screening programs. NCHAM has been instrumental in helping hospitals and states across the country implement EHDI programs to dramatically increase screening of newborns nationwide.
January 14, 2013: Center for Jewish Genetics
The Center for Jewish Genetics has been providing education and programming to the Jewish, professional and general communities since 1999. The Center represents the blending of science with religious, cultural, and historical sensitivity and awareness, and its mission is to empower community members to seek out information and prevention strategies for Jewish genetic disorders and hereditary cancers. The Center translates laboratory discoveries into accessible information for the Jewish community, healthcare providers, rabbis, and the general public while striving to raise awareness through education, screening and prevention programs, an information and referral help line, and advocacy.
January 7, 2013: Cora's Story
Cora's mom started a a blog as a pregnancy journal. When Cora died unexpectedly five days after she was delivered due to a congenital heart condition, Cora's mom decided to continue the blog to educate other parents about the importance of newborn screening and its potential to save lives. Cora lives on through the blog, which provides information on pulse oximetry for critical congenital heart disease, as well as links to support and advocacy groups and ways to donate and get involved.
2012 Neighbors
January 9, 2012: PXE International
Started in 1995 by parents with children newly diagnosed with Pseudoxanthoma Elasticum (PXE), PXE International is an advocacy organization working to support individuals, families, and clinicians of those affected by PXE. PXE International also strives to accelerate research of PXE by initiating, funding, and conducting research. PXE International serves as an excellent model for how advocacy groups can establish infrastructure to initiate, conduct, and accelerate research.
January 16, 2012: Genzyme
As one of the world's leading biotechnology companies, Genzyme is dedicated to making a major positive impact in the lives of people with serious diseases. Since it's founding in 1981, the company has worked to develop new medicines, improve existing therapies, and ensure that patients have access to these treatments. Genetic Alliance partnered with Genzyme to create resources for the Gaucher and Fabry disease communities on talking to your family about health.
January 23, 2012: The Progeria Research Foundation
The Progeria Research Foundation was established in 1999 by the family of a child with Progeria with the goal of discovering the causes, treatments, and cure for Progeria. Since then, the foundation has made extraordinary progress toward their mission, including discovering the Progeria gene in 2003, initiating the first-ever clinical trials in 2007, and researching the link between Progeria, heart disease, and the aging we all experience.
January 30, 2012: Shire
As one of the world's leading specialty biopharmaceutical companies, Shire is a company focused on a single purpose: to enable people with life-altering conditions to lead better lives. Founded in 1986, Shire is organized into two divisions, the specialty Pharmaceuticals division, focusing on small-molecule medications, and the Human Genetic Therapies division, focusing on treatments for single mutation genetic diseases.
February 6, 2012: 23andMe
23andMe's mission is to be the world's trusted source of personal genetic information. The company was started in 2006, when the two founders were frustrated at the pace of genetic research and the ability to translate that research into personalized medicine. Giving consumers the opportunity to access and understand their genetic information and directly participate in research changes the way genetic research is conducted and its utility for the general public. With the introduction of a program called 23andWe, customers can join an effort to translate basic research into improved health care for everyone through contributing their data to genetic studies. Recently, 23andMe announced that is has built one of the world's largest databases of individual genetic information, including the DNA from more than 100,000 people.
February 13, 2012: Genetics Home Reference
Leaders from research, medicine, academia, education, labor, business, health care, and policy have joined together to form the Council for American Medical Innovation, a partnership aimed at urging Congress to adopt a national policy agenda on medical innovation. Specifically the council is working toward policies that expand involvement in research development and application, increase investment in life science education, and ensure a highly skilled work force in the United States.
February 20, 2012: Illumina
Illumina is a leading developer, manufacturer, and marketer of life science tools and integrated systems for large-scale analysis of genetic variation and function. With the goal of improving human health by accelerating the collection, analysis, and application of biological information, Illumina offers array-based solutions for DNA, RNA, and protein analysis, helping to make the realization of personalized medicine possible.
February 27, 2012: Council for American Medical Innovation
Leaders from research, medicine, academia, education, labor, business, health care, and policy have joined together to form the Council for American Medical Innovation, a partnership aimed at urging Congress to adopt a national policy agenda on medical innovation. Specifically the council is working toward policies that expand involvement in research development and application, increase investment in life science education, and ensure a highly skilled work force in the United States.
March 5, 2012: CISCRP
The Center for Information and Study on Clinical Research Participation (CISCRP) is a first-of-its-kind nonprofit organization dedicated to educating and informing the public, patients, medical/research communities, the media, and policy makers about clinical research and the role each party plays in the process.
March 12, 2012: Aaron's Ohtahara
Aaron's Ohtahara was founded in 2010 by the parents of a child, Aaron, who was diagnosed with Ohtahara Syndrome. Their mission is to establish relationships with families that have children with Ohtahara Syndrome and to provide resources, support, and information to communities worldwide about Ohtahara Syndrome. The outreach of Aaron's Ohtahara is growing, and the organization hopes to be involved with ongoing research into Ohtahara Syndrome.
March 19, 2012: American Academy of Pediatrics
The American Academy of Pediatrics (AAP) works with a network of more than 60,000 providers to attain optimal physical, mental, and social health and well-being for all infants, children, adolescents, and young adults. One of AAP's main child health priorities for 2011-2012 is epigenetics. Join AAP on Tuesday, March 20 at 1pm ET for the webinar Time Out for Genetics: Integrating Genetics into Primary Care – Why Does It Matter?
March 26, 2012: Genetic Alliance BioBank
Genetic Alliance Registry and BioBank is a centralized, clinical data registry and sample repository that enables translational research. Founded in 2003, this cooperative venture provides shared infrastructure and customized solutions for disease advocacy organizations to lead sophisticated research initiatives. It is governed by representatives of the participating disease advocacy organizations and currently houses more than 25,000 samples and thousands of clinical records.
April 2, 2012: ARPkD/CHF Alliance
The ARPKD/CHF Alliance is a nonprofit organization dedicated the Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Congenital Hepatic Fibrosis (CHF) communities. Established in 2001, the mission of the alliance is to educate, advocate, support, and advance research specific to ARPKD/CHF. The ARPKD/CHF Alliance has greatly surpassed its original goal of increased awareness of ARPKD/CHF and generated the largest research study to date for the ARPKD/CHF community.
April 9, 2012: Trimethylaminuria Foundation
The purpose of the Trimethylaminuria (TMAU) Foundation is to provide education, peer-support, and encouragement to research initiatives to discover treatments and a cure for TMA. The TMAU Foundation provides a variety of resources for the TMAU community including information about the disease, diagnosis, current research, and support groups.
April 16, 2012: GenomeWeb
Since 1997, GenomeWeb has operated the largest online news organization providing its readers with exclusive, in-depth coverage of the worldwide research enterprise of molecular biology. GenomeWeb serves a global community of scientists, technology professionals, and executives who use and develop the latest advanced tools in molecular biology research and molecular diagnostics
April 23, 2012: Organic Acidemia Association
The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in Organic Acidemia metabolic disorders. The OAA supports early intervention through expanded newborn screening, solicits contributions, and distributes funding that supports research toward improved treatment and eventual cures in the area of Organic Acidemia disorders.
April 30, 2012: National Foundation for Ectodermal Dysplasias
Founded in 1981, the mission of the National Foundation for Ectodermal Dysplasias is to empower and connect people touched by Ectodermal Dysplasias through education, support, and research. Today more than 5,800 families in 72 countries are in touch with the Foundation, and the organization has funded more than $1 million in research for Ectodermal Dysplasias around the world.
May 7, 2012: Clinical Data Interchange Standards Consortium
The mission of the Clinical Data Interchange Standards Consortium (CDISC) is to develop and support the acquisition, exchange, submission, and archive of clinical research data to improve medical research and healthcare. CDISC is committed to leading the development of standards that improve efficiency working with data, while upholding the scientific nature of the research.
May 14, 2012: Faces Autism Support Group
FACES Autism Support Network focuses on early intervention, education, advocacy, and support for families dealing with Autism Spectrum Disorder in the South Jersey area. Founded in 2002, FACES (Families for Autistic Children Education & Support) leads programs including family support, sibling support, conferences, and education services, and there are now over 250 families involved.
May 21, 2012: Nest DC
Part of living a healthy life is having a healthy home. Nest DC delivers one-of-a-kind property management, design, and relocation services in Washington, DC, and beyond. They work to create an exceptional living experience and contribute to a stronger local community. In 2011, Nest DC was voted #1 in the City Paper “Best of DC” issue for property management.
May 28, 2012: B&D Consulting
FaegreBD Consulting is a Washington, D.C.-based national advisory and advocacy firm founded in 1985. FaegreBD professionals deliver interdisciplinary consulting services to growth sectors in the economy, including the health and life sciences sectors.
June 4, 2012: Newborn Screening Coding and Terminology Guide
The Newborn Screening Coding and Terminology Guide was created for state health officials and physicians to promote and facilitate the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site provides physicians with standard codes and terminology for newborn tests and the conditions that infants are screened for to reduce variations in how screenings are conducted and results are recorded.
June 11, 2012: Pulmonary Fibrosis Foundation
The Pulmonary Fibrosis Foundation (PFF) is a leader in the idiopathic pulmonary fibrosis (IPF) community for research, advocacy, awareness, and support. Founded in 2000, the mission of the PFF is to help find a cure for IPF, advocate for the IPF community, and provide a compassionate environment for patients and their families.
June 18, 2012: CCARE Lynch Syndrome
The mission of Colon Cancer Alliance for Research and Education for Lynch Syndrome is to educate the public and healthcare professionals about Lynch syndrome and to help fund research for a cure for this disease. CCARE wants people to know about Lynch Syndrome and how it can put their families at risk for cancer so that they can take necessary preventive measures and diagnose new cases of cancer at earlier stages, leading to improved quality of life and longevity for affected individuals.
June 25, 2012: American Association on Health and Disability
The mission of the American Association on Health and Disability is to support health promotion and wellness initiatives for children and adults with disabilities and reduce health disparities between people with disabilities and those without disabilities. They contribute to national, state, and local efforts to prevent additional health complications in people with disabilities, and they identify effective intervention strategies to reduce the incidence of secondary conditions.
July 2, 2012: National Ataxia Foundation
The National Ataxia Foundation is a membership-supported organization that has been supporting promising ataxia research since 1957. They are dedicated to improving the lives of persons affected by ataxia through support, education, and research. They also provide communication to the community on the latest ataxia news and information.
July 9, 2012: State Hygienic Laboratory at the University of Iowa
For over 100 years the State Hygienic Laboratory at the University of Iowa has made it their mission to protect the health of all Iowans. They do this through laboratory and field based investigations, recommending methods of overcoming and preventing disease, and through supporting state and local agencies in the ongoing evaluation of the state’s environmental quality and public health. Service, quality, collaboration, communication, fiscal responsibility, and leadership are at their core values. The list of diseases that the Hygienic Lab tests for has grown exponentially over the years, and they have established a structure to provide rapid and effective laboratory services in case of disaster.
July 16, 2012: Cancer Legal Resource Center
The Cancer Legal Resource Center (CLRC) is a national, joint program of the Disability Rights Legal Center and Loyola Law School Los Angeles. The CLRC provides free information and resources on cancer-related legal issues to cancer survivors, caregivers, health care professionals, employers, and others coping with cancer.
www.disabilityrightslegalcenter.org/about/cancerlegalresource.cfm
July 23, 2012: Hunter's Quest to Cure Charcot-Marie-Tooth Disease
Hunter, and thousands of other children with Charcot-Marie-Tooth disease, share a dream. They want to run, jump, and dance like other kids do, but for many of them even the simplest activities of daily life can be challenging. Hunter's Quest to Cure Charcot-Marie-Tooth Disease hopes to help generate the resources to find a cure, create awareness, and to improve the quality of life for those affected by Charcot-Marie-Tooth disease.
July 30, 2012: 22q11 Ireland
22q11 Ireland provides support for individuals and families affected by 22q11.2 deletion/DiGeorge Syndrome/velo-cardio-facial syndrome. Through education, research, outreach and advocacy, the group seeks to raise awareness of this little known condition. They work with families, national and international organizations focused on 22q11.2 deletion, other rare chromosome disorder groups, the medical and scientific community, educational institutions, and government bodies.
August 7, 2012: SADS Foundation
The Sudden Arrhythmia Death Syndromes (SADS) Foundation's goal is to save the lives and support the families of children and young adults who are genetically predisposed to sudden death due to heart rhythm abnormalities.
August 14, 2012: Emory Lysosomal Storage Disease Center
The Emory Lysosomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all patients affected by lysosomal storage diseases. In addition to taking care of patients and doing quality research to help find effective treatments for LSDs, the Center supports the Paul M. Fernhoff endowment fund.
August 21, 2012: National Center for Medical Home Implementation (NCMHI)
The National Center for Medical Home Implementation (NCMHI) works in cooperation with federal agencies and other partners and stakeholders to ensure that all children and youth, including children with special needs, have access to a medical home. The medical home is important because it provides healthcare services that are accessible, family-centered, continuous, comprehensive, coordinated, compassionate, and culturally competent. The NCMHI is a cooperative agreement between the American Academy of Pediatrics (AAP) and the Maternal and Child Health Bureau. The NCHMI enhances policies and operational standards that guide implementation of the medical home through partnerships at the national level. At the practice level, they provide resources and tools that increase implementation of the medical home. They enhance the collaboration for medical home system change at the state and community levels. And they leverage the AAP structure—chapters, committees, councils, and sections—to further maximize medical home implementation at all levels from local to national.
August 28, 2012: Oxalosis & Hyperoxaluria Foundation
The Oxalosis & Hyperoxaluria Foundation promotes research to find a cure for oxalosis, primary hyperoxaluria, and related stone diseases and improve the care and treatment of those it affects. OHF focuses on patient, public, and professional outreach, awareness, and education. Join them next month (Sep. 22) in St. Louis, MO, for the 17th Annual Golf Tournament & Auction.
September 3, 2012: Science Moving towards Research Translation and Therapy (SMARTT )
The National Heart, Lung, and Blood Institute (NHLBI) Science Moving towArds Research Translation and Therapy (SMARTT ) Program supports the translation of novel discoveries into successful new therapies for heart, lung, and blood diseases by providing free, confidential, and rapid preclinical development services to investigators. Pre-clinical development is the first step in turning discoveries into cures. The SMARTT Program provides tailored pharmacology and toxicology testing, manufacturing services, and regulatory support to investigators to expedite the transition of their discoveries to the clinic.
September 10, 2012: Secretary's Advisory Committee on Heritable Disorders in Newborns and Children
The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children works to reduce morbidity and mortality in newborns and children who have or are at risk for heritable disorders, such as sickle cell anemia, cystic fibrosis and hearing impairment. The committee advises the Secretary, U.S. Department of Health and Human Services on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards. The Committee recommends that every newborn screening program include a Uniform Screening Panel that screens for 31 core disorders and 26 secondary disorders; the disorders' selection was based on Newborn Screening: Towards a Uniform Screening Panel and System.
www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/
September 17, 2012: Baby’s First Test
Baby’s First Test is the nation's educational resource center for newborn screening. It informs and empowers families and healthcare providers throughout the newborn screeningexperience. By increasing awareness, Baby’s First Test offers millions of newborns and their families a chance at a healthy start.
September 24, 2012: Association of Public Health Laboratories (APHL)
The Association of Public Health Laboratories (APHL) works in collaboration with other arms of the nation’s public health system to protect the public against diseases and other health hazards. APHL provides clinical diagnostic testing, disease surveillance, environmental and radiological testing, emergency response support, applied research, laboratory training and other essential services to the communities they serve. When health risks emerge or re-emerge, laboratories in public health analyze the threat, provide the answers needed to mount an effective response and act to protect the public. In one way or another, their work affects the life of every American.
October 1, 2012: Personal Genetics Education Project (pgEd)
The Association of Public Health Laboratories (APHL) works in collaboration with other arms of the nation’s public health system to protect the public against diseases and other health hazards. APHL provides clinical diagnostic testing, disease surveillance, environmental and radiological testing, emergency response support, applied research, laboratory training and other essential services to the communities they serve. When health risks emerge or re-emerge, laboratories in public health analyze the threat, provide the answers needed to mount an effective response and act to protect the public. In one way or another, their work affects the life of every American.
October 8, 2012: Genetic Alliance Registry and BioBank (GARB)
Genetic Alliance Registry and BioBank is a clinical data registry and sample repository that enables translational research.
October 15, 2012: American Academy of Pediatrics (AAP)
The American Academy of Pediatrics is an organization of 60,000 pediatricians committed to the optimal physical, mental, and social health and well-being for all infants, children, adolescents, and young adults. The AAP runs the National Center for Medical Home Implementation and the Genetics in Primary Care Institute, of which Genetic Alliance is a partner.
October 22, 2012: National Society of Genetic Counselors (NSGC)
The National Society of Genetic Counselors (NSGC) advances the various roles of genetic counselors in healthcare by fostering education, research, and public policy to ensure the availability of quality genetic services. This new and important member of the genetics team was introduced in 1971 when the first class of master's degree genetic counselors graduated from Sarah Lawrence College in Bronxville, NY. With this profession's unique knowledge and skills in counseling and human genetics, genetic counseling professionals rapidly became an integral member of the clinical genetics team. Join NSGC this week in Boston for the Annual Education Conference.
October 29, 2012: American Public Health Association (APHA)
The American Public Health Association is the oldest, largest and most diverse organization of public health professionals in the world and has been working to improve public health since 1872. APHA aims to protect all Americans and their communities from preventable, serious health threats and strives to assure community-based health promotion and disease prevention activities and preventive health services are universally accessible.
November 5, 2012: Genetic Alliance
Genetic Alliance celebrates 26 years as the world’s leading nonprofit health advocacy organization committed to transforming health through genetics.
November 12, 2012: John Paul II Medical Research Institute
The John Paul II Medical Research Institute has been working towards the creation of a more streamlined process to conduct regenerative medical research since 2006 and has contributed to the creation of the largest adult stem cell repository in the world. By exclusively using a variety of non-controversial, non-embryonic adult stem cells, the Institute intends to develop preclinical research technologies that will broadly advance drug discovery for many diseases.
November 19, 2012: Surgeon General's "My Family Health Portrait"
The Surgeon General's "My Family Health Portrait" makes it easy for you to record your family health history: You can enter your family health history information, save and update it over time, and print it to share with family or your healthcare provider. The tool is easy to access on the web and simple to fill out. It assembles your information and makes a "pedigree" family tree that you can download. It is private and interoperable with electronic and personal health records. It should only take about 15 to 20 minutes to build a basic family health history - get started today!
November 26, 2012: Grey's Gift Memorial Foundation
Greyson William Morris was diagnosed with Krabbe Disease, a rare form of leukodystrophy that attacks the nervous system, after it was too late to be treated. Had he been screened as a newborn for the disease, treatment would have begun immediately. The mission of Grey's Gift Memorial Foundation is to educate others of the importance of newborn screening to protect against inherited, treatable diseases. In 2009, Gov. Perry of Texas signed HB 1795 establishing Greyson's Law, which adds 24 disorders to Texas' newborn screening panel, for a total of 52 disorders. Grey's Gift continues to be a leading voice in newborn screening advocacy.
December 3, 2012: Baby Food Steps
Baby Food Steps is a blog and resource for parents exploring topics from food allergies, food intolerances, metabolic disorders, autism, mitochondrial disease, newborn screening and their relationship to one another. A former chemist turned mom and advocate, explores the scientific role food and nutrients play in our health and that of our children's health as her family navigates the journey of a yet undiagnosed metabolic disorder for their daughter.
December 10, 2012: The Pearly in the Oyster
PMG Awareness focuses on the care of people with polymicrogyria. The families, caregivers, and medical professionals that are part of this international nonprofit promote awareness, diagnosis, and treatment of PMG through education, research, advocacy, and support for individuals with the condition, their families, and other concerned parties. The organization strives to provide a comprehensive overview of PMG: its effects; current information on treatments, drugs, and potential procedures; financial and social resources; leading medical centers and professionals, including therapists and alternative therapies; assistance with planning for the care of a child with special needs; and where to find support groups, online support groups, and other organizations that offer help with other illness that might accompany the diagnosis of PMG.
December 18, 2012: Children’s National Medical Center
Children’s National Medical Center has provided pediatric care in the metropolitan Washington area for 140 years and is the largest non-governmental provider of pediatric care in the District of Columbia. The hospital is a proven leader in the development and application of innovative treatments for childhood illness and injury and an advocate for all children. Children's National works to excel in care, advocacy, research, and education by providing quality healthcare experiences for patients and families, improving health outcomes for children, and creating innovative solutions to pediatric health challenges.
