Where patient groups driveresearch

This project focuses on enhancing community engagement and outreach for Marfan Syndrome through collaborative efforts.

A project to enhance advocacy efforts for Spinal Muscular Atrophy through collaboration between patient groups and researchers.

This project aims to involve patients directly in research activities for Duchenne Muscular Dystrophy, ensuring their voices are heard in the research process.

A project to train patient navigators and advocates to support individuals with Gaucher Disease, fostering better patient outcomes.

A project aimed at developing support networks for patients with Alport Syndrome, fostering community and providing essential resources.

This project aims to develop digital resources for patients with Cystic Fibrosis to improve access to information and support.

A project to develop holistic support programs for Neurofibromatosis patients, addressing both medical and psychosocial needs.

A project to create innovative support services for patients with Phenylketonuria (PKU), involving collaboration between patient groups and healthcare providers.

A project to raise awareness and educate the public about Huntington's Disease, involving collaboration between patient groups and educators.

This project aims to develop gene therapy treatments for Rett Syndrome through a collaborative effort between patient advocacy groups and researchers.

Dr. Robert Garcia, a senior scientist at Illumina, specializes in metabolic disorders, particularly Prader-Willi Syndrome. His research focuses on genetic sequencing and its applications in diagnosing and treating metabolic diseases. Prader-Willi Syndrome is a complex genetic condition characterized by a constant sense of hunger, leading to chronic overeating and obesity, along with developmental delays and other health issues. Dr. Garcia's work at Illumina involves cutting-edge genomic technologies to identify the genetic anomalies associated with Prader-Willi Syndrome. By conducting comprehensive genetic analyses, he aims to uncover the molecular mechanisms underlying the disorder, paving the way for targeted therapies. Dr. Garcia's research has led to significant advancements in the understanding of Prader-Willi Syndrome, including the identification of key genetic markers that can be used for early diagnosis and intervention. His commitment to personalized medicine ensures that his findings are translated into practical applications, improving patient outcomes. Dr. Garcia collaborates with a wide network of researchers, clinicians, and patient advocacy groups, fostering a collaborative environment that accelerates the pace of discovery and innovation. His contributions to the field have been widely recognized, earning him numerous awards and grants. Dr. Garcia's work not only enhances our understanding of metabolic disorders but also provides new hope for patients and families affected by Prader-Willi Syndrome.

Dr. Emily Davis is a healthcare provider specializing in metabolic disorders at the Metabolic Disorders Institute. She leads initiatives to create innovative support services for patients with Phenylketonuria (PKU). Dr. Davis's work includes needs assessment, service development, and implementation of comprehensive support programs for PKU patients. Her holistic approach integrates medical treatment with nutritional guidance and psychological support, recognizing the multifaceted needs of patients with PKU. Dr. Davis is an advocate for patient-centered care, working closely with families to develop personalized care plans that improve quality of life. Her dedication to patient education and empowerment has made her a trusted figure in the PKU community. Dr. Davis's contributions extend beyond clinical practice, as she actively participates in research efforts to explore new therapeutic strategies and improve patient outcomes.

Dr. Maria Thompson is an expert in gene therapy at Harvard Medical School. She leads a research team focusing on developing gene therapy treatments for rare genetic disorders, including Rett Syndrome. Dr. Thompson's work involves identifying target genes, developing gene vectors, and conducting preclinical trials to advance the field of gene therapy. Her pioneering research aims to correct genetic mutations at their source, providing a potential cure for debilitating conditions. Dr. Thompson has published numerous influential papers on gene therapy techniques, and her innovative approaches have garnered international recognition. She collaborates with patient advocacy groups to ensure that her research addresses the real-world needs of patients and their families. Her commitment to translating scientific discoveries into clinical applications underscores her role as a leader in the field of genetic medicine.

Dr. Michael Brown is a leading research scientist at Biogen, focusing on Gorham-Stout Disease. His work in identifying novel therapeutic targets has opened new avenues for treatment. Over the years, Dr. Brown has dedicated himself to understanding the underlying mechanisms of this rare and often devastating disorder. Gorham-Stout Disease, characterized by the spontaneous and progressive destruction of bone, presents a significant challenge due to its rarity and complexity. Dr. Brown's research has involved extensive studies on the lymphatic system's role in bone resorption and regeneration. By leveraging advanced molecular biology techniques and animal models, he has uncovered critical pathways that contribute to the disease's progression. His work has not only advanced the scientific community's knowledge of Gorham-Stout Disease but also brought hope to patients and their families who previously had limited treatment options. Dr. Brown's commitment to translational research ensures that his discoveries in the lab move quickly toward clinical applications, bridging the gap between basic science and patient care. His contributions have been recognized through numerous awards and publications in top-tier scientific journals, solidifying his reputation as a pioneer in the field of rare bone diseases.

Dr. Robert Green is a digital health expert at the Digital Health Research Center, leading an initiative to develop digital resources for patients with Cystic Fibrosis. His work includes creating a comprehensive resource website, developing an informational app, and conducting usability testing to improve access to information and support for Cystic Fibrosis patients. Dr. Green's innovative use of technology aims to bridge the gap between patients and healthcare providers, facilitating better management of chronic conditions. His dedication to user-centered design ensures that the digital tools he develops are both effective and easy to use. Dr. Green's research interests include the application of digital health technologies in chronic disease management, and he has published extensively on the subject. His work has transformed the way patients with Cystic Fibrosis access information and manage their health, making a significant impact on patient care.

Dr. Robert Garcia is a specialist in patient advocacy at the Patient Advocacy Institute, leading a project to train patient navigators and advocates for Gaucher Disease. His work includes developing training curricula, conducting training sessions, and evaluating training outcomes to support individuals with Gaucher Disease. Dr. Garcia's approach emphasizes the importance of empowering patients and their families through education and advocacy. He collaborates with healthcare providers and patient organizations to create comprehensive training programs that address the unique needs of Gaucher Disease patients. Dr. Garcia's dedication to patient advocacy has led to the development of innovative support structures that enhance patient care and improve outcomes. His work is a testament to the power of advocacy in transforming the lives of patients with rare genetic disorders.

Dr. Patrick Allen is a specialist in rare disease advocacy at the Advocacy Center for Rare Diseases, leading a project to enhance advocacy efforts for Spinal Muscular Atrophy. His work includes developing advocacy strategies, collaborating with researchers, and implementing advocacy campaigns to strengthen support for Spinal Muscular Atrophy patients. Dr. Allen's approach emphasizes the importance of collaboration between patient advocacy groups and researchers to ensure that advocacy efforts are well-informed and impactful. He works closely with patients and their families to understand their needs and advocate for policies and programs that address these needs. Dr. Allen's dedication to advocacy has led to significant advancements in support for Spinal Muscular Atrophy patients, improving their quality of life and fostering a stronger community of advocates.

Dr. Charles Carter is a specialist in holistic care at the Holistic Health Institute, leading a project to develop holistic support programs for Neurofibromatosis patients. His work involves identifying patient needs, developing support programs, and implementing and evaluating these programs to address both medical and psychosocial needs. Dr. Carter's holistic approach integrates various aspects of care, including medical treatment, psychological support, and lifestyle management. He collaborates with multidisciplinary teams to ensure that patients receive comprehensive and coordinated care. Dr. Carter's dedication to holistic care has transformed the support landscape for Neurofibromatosis patients, providing them with the resources and support they need to manage their condition effectively. His work highlights the importance of addressing the whole person in healthcare, recognizing that physical health is closely linked to emotional and social well-being.

Dr. Emily Davis, a clinical researcher at Genentech, specializes in oncology with a focus on Alkaptonuria. She has played a pivotal role in advancing clinical trials and treatment protocols for this rare disease. Dr. Davis's journey in rare disease research began early in her career, driven by a passion to address the unmet needs of patients with limited treatment options. Alkaptonuria, also known as 'black bone disease,' leads to severe complications, including arthritis and heart disease, due to the accumulation of homogentisic acid in the body. Dr. Davis's research aims to mitigate these complications through innovative therapeutic strategies. Her work encompasses both bench research and clinical applications, ensuring that new treatments are thoroughly tested and optimized for patient use. Dr. Davis has spearheaded several multicenter clinical trials, collaborating with international experts to evaluate the efficacy and safety of novel drugs. Her dedication to patient-centered research is evident in her proactive engagement with patient advocacy groups, ensuring that the patient voice is integral to the research process. Through her leadership, Genentech has established itself as a key player in rare disease treatment development, with Dr. Davis at the forefront of these efforts. Her comprehensive approach, combining rigorous scientific inquiry with compassionate patient care, has earned her widespread acclaim in the medical community.

Dr. Sarah Johnson is a renowned neurologist at Harvard Medical School, specializing in Myhre Syndrome. She has made significant contributions to the understanding and treatment of this rare disorder through her groundbreaking research. Over the past decade, Dr. Johnson has dedicated her career to unraveling the complexities of Myhre Syndrome, a rare genetic condition characterized by developmental delays, distinctive facial features, and various other systemic anomalies. Dr. Johnson's research has been instrumental in identifying the genetic mutations responsible for Myhre Syndrome. Her work has provided critical insights into the molecular mechanisms that underlie the condition, paving the way for the development of targeted therapies. By utilizing advanced genomic sequencing technologies, Dr. Johnson and her team were able to pinpoint specific mutations in the SMAD4 gene, a key regulator in the TGF-beta signaling pathway, which is crucial for normal development and growth. Dr. Johnson's efforts have not only advanced scientific knowledge but also brought hope to patients and families affected by this challenging disorder. Her dedication to patient care and research excellence continues to inspire the medical community.

Dr. Jennifer Smith is an expert in patient-centered research at the Rare Disease Research Center, focusing on Duchenne Muscular Dystrophy. She leads projects to enhance patient participation in research, develop participation guidelines, recruit patient participants, and conduct patient-centered research activities. Dr. Smith's work emphasizes the importance of including patients' perspectives in research, ensuring that studies are relevant and beneficial to those affected by Duchenne Muscular Dystrophy. Her collaborative approach involves working closely with patient advocacy groups and families to identify research priorities and design studies that address their needs. Dr. Smith's dedication to patient engagement has transformed the research landscape for Duchenne Muscular Dystrophy, fostering a more inclusive and impactful approach to scientific inquiry.

Dr. James Wilson is a distinguished professor of immunology at the University of Pennsylvania, known for his research on Castleman Disease. His work has significantly improved our understanding of the immunologic aspects of the disease. Castleman Disease, a group of rare lymphoproliferative disorders, poses unique challenges due to its varied presentation and etiology. Dr. Wilson's research has focused on unraveling the complex immunological mechanisms driving this disease. Through extensive studies involving patient samples and advanced immunological assays, he has identified key cytokines and signaling pathways involved in the pathogenesis of Castleman Disease. His pioneering work has led to the development of targeted therapies that modulate the immune system, providing new treatment options for patients. Dr. Wilson's commitment to translational research ensures that his findings are rapidly integrated into clinical practice, benefiting patients worldwide. He collaborates with a global network of researchers and clinicians, fostering a multidisciplinary approach to tackling this rare disease. Dr. Wilson's contributions extend beyond the laboratory; he is also deeply involved in educating the next generation of immunologists, mentoring students and junior faculty members. His dedication to research and education has earned him numerous accolades, and he continues to inspire both his peers and his students through his tireless pursuit of knowledge and his unwavering commitment to improving patient care.

Dr. Angela Moore is a specialist in community support at the Community Support Network, leading an initiative to develop support networks for patients with Alport Syndrome. Her work includes community needs assessment, support program development, and program implementation to provide essential resources and foster community for Alport Syndrome patients. Dr. Moore's approach is holistic, addressing not only the medical but also the social and emotional needs of patients. She collaborates with patient advocacy groups, healthcare providers, and community organizations to create comprehensive support programs that enhance quality of life. Dr. Moore's dedication to community engagement and support has made her a trusted ally for patients and families affected by Alport Syndrome. Her work underscores the importance of community in managing and living with chronic conditions.

Dr. James Wilson is a renowned cardiologist at the Cardiovascular Health Institute, leading a project to enhance community engagement and outreach for Marfan Syndrome. His work involves developing awareness campaigns, organizing educational workshops, and conducting community events to raise awareness about Marfan Syndrome. Dr. Wilson's expertise in cardiovascular health and his compassionate approach to patient care have earned him respect and admiration. He collaborates with patient advocacy groups to ensure that educational materials and outreach efforts are both accurate and impactful. Dr. Wilson's research focuses on the cardiovascular manifestations of Marfan Syndrome, aiming to develop better diagnostic tools and treatment options. His commitment to improving patient care and advancing medical knowledge makes him a pivotal figure in the field of cardiovascular health.

Dr. Paul Mitchell is an expert in public health education at the Public Health Education Institute, leading a project to raise awareness and educate the public about Huntington's Disease. His work involves developing educational materials, conducting awareness campaigns, and evaluating campaign effectiveness to improve public understanding of Huntington's Disease. Dr. Mitchell's expertise in public health and education has made him a respected leader in the field. He collaborates with patient advocacy groups, educators, and healthcare providers to create comprehensive educational programs that reach a wide audience. Dr. Mitchell's dedication to public health education has had a profound impact on the awareness and understanding of Huntington's Disease, helping to reduce stigma and promote early diagnosis and treatment. His work underscores the importance of education in improving health outcomes and supporting individuals affected by rare diseases.

Dr. Laura Martinez, a principal investigator at MD Anderson Cancer Center, focuses on Fabry Disease. Her leadership in clinical research has been instrumental in developing new treatment options. Fabry Disease, a rare genetic disorder caused by the buildup of a particular type of fat in the body's cells, leads to a range of severe symptoms, including pain, kidney failure, and cardiovascular issues. Dr. Martinez's work involves detailed clinical studies and trials that aim to improve the quality of life for Fabry patients. She employs a patient-centric approach, ensuring that treatments are not only effective but also tailored to the needs of individual patients. Dr. Martinez's research has explored various therapeutic avenues, including enzyme replacement therapy and gene therapy, pushing the boundaries of what is possible in Fabry Disease treatment. Her collaborations with pharmaceutical companies and patient advocacy groups have facilitated the translation of her research into clinical practice, bringing new hope to patients who previously had limited options. Dr. Martinez is also committed to education and outreach, regularly speaking at conferences and contributing to medical journals to share her findings with the broader medical community. Her work has not only advanced the field of Fabry Disease research but also set new standards for clinical care and patient involvement in research.

Funding for initiatives that strengthen the infrastructure and capabilities of rare disease patient organizations.

Grants for patient groups to participate in and contribute to research efforts for rare diseases.

Grants to support collaborative advocacy efforts among rare disease patient groups.

Funding for patient groups to support community engagement and empowerment activities.

Funding for holistic support programs that benefit families affected by rare diseases.

Funding for the dissemination of information and resources to rare disease patient communities.

Funding for peer mentoring programs within rare disease patient groups.

Grants to expand support services for patients and caregivers within rare disease communities.

Grants to support awareness campaigns and educational programs for rare diseases.

Grants to support the inclusion of patient voices in rare disease research and advocacy.

Grants to support community engagement and outreach efforts for rare disease awareness.

Funding for initiatives that empower and educate patients within the rare disease community.

Funding for training programs that develop patient navigators and advocacy leaders.

Funding for sustainable support solutions for rare disease patient groups.

Grants for initiatives that enhance patient advocacy efforts and improve quality of life.

Grants for the creation and development of digital resources for rare disease patient groups.

Funding for innovative support services and programs that benefit rare disease patients.

Funding for the development and enhancement of support networks for rare disease communities.

Grants for building advocacy capacity within rare disease patient organizations.

Rainbow Pharma Consulting provides consulting for drug development programs, clinical protocols, and pharmacology trials.

BioLamina develops, manufactures and distributes cell culture reagents intended for culturing of primary cells such as stem cells. The company was established in 2008 and was co-founded by Dr. Karl Tryggvason and his son Dr. Kristian Tryggvason. Today the company has 13 employees with almost half in sales and marketing. BioLamina is built on a scientific foundation with a legacy in matrix biology and solid experience in cell culture based research and our vision is to make BioLamina a leading brand within the field of cell culture and to help make cell therapy a reality. The BioLamina laminins are the only original full length, recombinant laminins on the market. By offering cell matrices replicating natures own laminins, we make cell culture easy, reliable and repeatable. We offer premium high technology products combined with outstanding scientific support and position ourselves as being in the forefront of cell culturing. Our products enable scientists to start a new era in medical research, ultimately enabling cell therapy. We are known and recognized for our products, competence, dedication and service, which contributes to our customers efficiency and scientific breakthroughs.

The Wistar Institute Proteomics Facility provides mass spectrometry (MS) and sequence analysis of proteins and peptides at maximum sensitivity using state-of-the-art instruments and methods.

Medana offers production of pediatric drugs and vitamin preparation in modern forms.

QB3 offers its core research facilities to support studies involving functional genomics, proteomics, advanced imaging, structure determination, and high throughput screening.

Diamond Light Source is the UK’s national synchrotron science facility.

Aversion Technologies offers naturally occurring compounds and synthetic chemicals to companies around the world. These specialty chemicals are added to products making them unpalatable to humans and animals. This is a very effective way of protecting children and pets from consuming dangerous goods (antifreeze and household cleaners). Typically, exposure to aversives results in future avoidance. This behavior modification leads to long-term protection of people, pets and plants. Chief among our products are the naturally occurring bitterants colocynth and andrographolide, the synthetic bitterants denatonium benzoate and denatonium saccharide; the naturally hot and spicy capsaicin derived from hot peppers and nonivamide, its synthetic analogue. Repela™ is a unique solution for deterring animals from chewing plastic materials, such as electric and fiber optic cables, or plastic pipes. Repela is currently available in four carriers: microcrystalline wax, polyethylene, propylene glycol, and polyvinyl chloride. We will soon be releasing an LDPE version and other masterbatch carriers will follow. Typical concentrations of active ingredients range from 25% to 50%, and are custom blended to meet our customer's specific needs. Any of our herbs and chemicals can be used as an additive, rendering a product inedible, and thereby, safe. Denatonium benzoate is commonly used as an additive in antifreeze and household cleaners to prevent consumption, and synthetic capsaicin (nonivamide) is used in pepper sprays.

Huntingdon Life Sciences offers genetic toxicology services and assays for irritation, corrosivity, teratogenicity, permeability, in vitro metabolism, cardiac safety, dermal penetration and microbiological testing.

AAT Bioquest is a US-based bioreagents company that specializes in assay technologies. It is currently headquartered at 5775 W. Las Positas Blvd, Pleasanton, California. Our Company Since its inception, AAT Bioquest (formerly ABD Bioquest) has strived to innovate and push the boundaries of bioconjugation services and assay technology. More than a decade later, that commitment has stayed the same. Our unique, integrative approach to assay development draws from all fields of study, from chemistry to biology to informatics and more, leading to a wave of new generation photometric probes that utilize colorimetric, fluorimetric and luminescent technologies. With our team of passionate scientists and experts, AAT Bioquest seeks to address some of the most challenging problems faced in life science research, diagnostic R&D and drug discovery. Employing a strong network of experienced and professional distributors across the globe, we provide superior products and customized services to a diverse portfolio of clients spanning from small research institutions to Fortune 500 companies. Our Values We have always held onto one simple vision. That is, to provide quality solutions for researchers in the life sciences. We believe that a company’s integrity is its core, as well as its key to long standing sustainability. That is why we are dedicated to consistently improving customer experience, from initial contact to point of sales to technical follow up. The desire to anticipate, meet and exceed our customers’ expectations has been, and always will be, our number one priority. Our Products AAT Bioquest's reliable, high performance products enable life science researchers to better understand biochemistry, immunology, cell biology and molecular biology. Our product lines have been designed with both productivity and flexibility in mind, two qualities that are invaluable in today's fast-paced industry. Our catalog of over 5000 items includes product lines such as Fluo-8®, Cal-520®, Cell Meter™, Amplite™, CytoTrace™ and CytoTell™, brands that have garnered recognition and praise in the life science research community AAT Bioquest has demonstrated a consistent ability to introduce novel, high quality reagents and kits. Our rapidly growing catalog contains products that largely fall into one of five categories. 1. Reactive fluorescent and luminescent probes, biotins and tag enzymes for labeling small drug molecules and biopolymers, such as proteins, nucleic acids and carbohydrates 2. Fluorescent and luminescent probes for detecting proteins, nucleic acids and live cells 3. Fluorescent and luminescent probes for detecting various enzymes, in particular, hydrolytic and redox enzymes 4. Reagents developed and improved for signal transduction research 5. Physiological and neurological probes, such as calcium indicators and membrane potential probes Besides our standard catalog products we also offer custom services to meet your special research needs. Our current services include bioconjugation, custom antibody labeling, custom peptide labeling, custom oligo labeling, custom synthesis of colorimetric, fluorescent and luminescent probes, custom development of biochemical, cell-based and diagnostic assays and custom screening of your compound libraries against your defined targets using our validated HTS assays.

Supports independent and cross-disciplinary research at SIU in addition to providing analytical services and technical assistance to growers and producers. Facility capabilities currently include pH and YAN analysis, with plans to expand to grapes, wine, beer, hops, barley, must, and distilled spirits analysis.

Physiolution GmbH is a highly innovative company focused on investigations of the dissolution behaviour of solid oral dosage forms under bio-relevant test conditions. The analytical services of Physiolution GmbH include pharmacopoeial dissolution testing and other pharmacopoeial investigations of solid oral dosage forms and their mechanical stability as well as development and validation of analytical methods and procedures, biochemical characterisation of biomolecules and formulation of peptide drugs. Please see our publications: https://scholar.google.com/citations?user=LzX9m0QAAAAJ&hl=pl&oi=ao

Pursuing Cures for Infectious Diseases The Center for Global Infectious Disease Research (CGIDR) is working to understand, treat, prevent and cure infectious diseases affecting people across the globe from neonatal to adult stages of life. Our members and research teams aim to develop effective solutions so children can grow up to be healthy adults. Translating Basic Biology into Innovative Strategies CGIDR researchers translate basic biology into strategies for the diagnosis, treatment and prevention of infectious diseases and conditions that impact people locally, nationally and globally. Our scientists study the role of pathogens in acute and chronic infectious diseases, targeting viral, bacterial and fungal pathogens. Research areas include infection-associated cancers, mechanisms of pathogen persistence and virulence, antibiotic resistance and pathogen diagnostics. Training the Next Generation of Leading Researchers Our program is distinguished by a commitment of center faculty to training and mentoring of pediatrician-researchers and scientists, producing prominent researchers and leaders with a strong global presence in the effort to improve the health of children and their families.

Adipogen Life Sciences is a leading manufacturer focusing on Inflammation and Immune Responses. In addition to catalog antibodies, proteins, ELISA Kits, and small molecules, custom services for antibody and protein production are available.

Martin-Protean provides access to 3-D structure of proteins, peptide mass spectrometry, and peptide isolation.

At Arizona DHIA, we specialize in milk analysis, sample and data collection, and bacterial microbiology. We serve dairies across the southwest United States and our microbiology laboratory is accredited with the USDA Chief Diagnostic Bacteriology Lab.