Where patient groups driveresearch

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

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

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

Join this forum if you’re a patient group or academic researching potassium ion channels.

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

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

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

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

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. 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. 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. 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. 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. 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. 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. 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.

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. 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. 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. 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. 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. 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. 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.

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

Funding for sustainable support solutions for rare disease patient groups.

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

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

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

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

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

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

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

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

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

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

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

Grants for building advocacy capacity within rare disease patient organizations.

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

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

Centers for Disease Control and Prevention (CDC) focuses on research and offers their facilities as resources for drug development.

U-Pharm Laboratories, located in Parsippany, New Jersey, is aimed to help your drug discovery organizations meet these challenges. Whether your company is large or small, we are capable of supporting your firm with our dedicated pharmacology and discovery services. Discovery biology services: 1. Pharmacology: - Functional and binding assays and screening, e.g., Measurements: Ca2+, cAMP, PI, membrane potential, transport, phosphorylation, DMR, proliferation, ion-channel recordings - Methods: fluorescence (FI, FP, FRET, TRF), Alphascreen, LANCE, luminescence, label-free, radioactivity, electrophysiology - Drug targets: GPCRs, PDEs, transporters, ion channels, nuclear receptors, kinases and other enzymes. - Compound screening (e.g., enzymes, GPCRs, transporters, cytotoxicity) - SAR assay support - Target selectivity profiling 2. Molecular Biology and Biochemical studies - Gene cloning, expression and protein characterization - Protein and antibody (Ab) purification, Ab screening - Site-specific labeling 3. Cell Biology - Stable cell line generation - Cell culture service 4. Mechanistic studies - Mechanism of action characterization

Arcarios is a drug development company dedicated to the discovery and development of innovative products in the field of bone and joint diseases such as osteoporosis and osteoarthritis. Current treatment options are insufficient and indicate an urgent need for disease modifying drugs. The company’s proprietary technology platform allows for the successful development of treatments focussed on restoring cartilage and bone, thereby addressing an important unmet medical need in today’s society. Having two advanced therapeutic programs with a strong technology and IP position, Arcarios is well positioned to capitalize on the market opportunity in the field of osteoarthritis and osteoporosis.

Saving Lives Through Testing

Bforcure provides services (PCR, qPCR, RT-PCR, RT-qPCR, multiplex PCR) using existing assays and custom designed assays. Services are performed on standard qPCR machines or assays can be optimized to work on our ultra fast machines.

Genoskin is a pioneering biotechnology company that leverages biological, non-clinical immunoprofiling testing to reduce the risks associated with human therapeutic drugs, vaccines, medical devices, and cosmetics development, by providing earlier access to higher quality human data during the drug development process. We are committed to ethical and sustainable practices by offering reliable alternatives to experimentation using animal models. Genoskin’s human skin platforms use biostabilized and immunocompetent ex vivo human skin from diverse donor populations to evaluate the efficacy and toxicity of injectable biotherapeutics. These human skin models are highly representative of in vivo conditions, allowing for more accurate and reliable biological testing of drug candidates using various cellular and molecular biology assays. We employ advanced analytical technologies such as next-generation transcriptomics and multiplexed proteomics, combined with machine-learning and artificial intelligence to generate actionable, consistent human data to accelerate the development of human therapeutics.

Established in 1998, Anhui Fengle Agrochemical Co.,Ltd. is a subsidiary wholly-owned by China's first public company Fengle Seeds Corp. in seed industry (stock code: 000713). Fengle Agrochemical is a high-tech pesticide R & D and production enterprise and boasts of several provincial in-house technology centers and a national patent workstation. Fengle's trademark was awarded "China's Well-known Trademark" by SAIC(State Administration of Industry and Commerce). In 2010, Anhui Fengle was awarded with the title of "China Top Ten Herbicide Producers". Fengle Agrochem has five research centers and one experiment base equipped with various advanced analytical & testing equipment. Besides actively participating in drafting and establishing national and industrial standards, Fengle Agrochem have also undertaken a large number of national ( such as "863" Plan, Key New Product Projects, Torch Program and Spark Program etc.) and provincial research programs. Fengle Agrochem has successfully passed ISO9001:2008 management system certification and won "Quality Management Award in Anhui Province". The company owns more than 600 employees and three production bases with the total area of more than 40 ha.: one technical synthesis plant, one formulation plant and the new plant in "Recyclic Economy Industrial Park" in Hefei. It has 12 sets of technical synthesis workshops producing more than 20 kinds of active ingredients, and more than 60 sets of automatic packaging and formulation production lines, which are able to produce more than 40,000 tons of crop protection products with various formulation types such as ME, OF, EW, SL, EC, SC, WDG,, WP, FS and so on. Our sales networks have covered both the most majority of Chinese home market and the foreign market, such as Europe, North and South America, Middle East and Southeast Asia.

Mabtech develops and offers ELISpot, FluoroSpot and ELISA kits, kit components and reagents, ELISpot and FluoroSpot readers and Contract Lab Services.

Our mission is simple - to contribute to the elimination of immunological disorders, parasitic infections and cancer. Achieving this goal begins with cutting-edge teaching and research programs, together with seminars and international conferences in biology and medicine for students and researchers from all over the world. We also seek to foster collaborations between our research groups and the industry so as to provide new paths to therapies and clinical approaches.

London Genetics provides genomics, diagnostic development, disease study management, health-related studies, and DNA/RNA analysis.

eNUVIO creates cutting-edge microfabricated devices for use by scientists in the academic and pharmaceutical industry, particularly in the field of neuroscience. Specifically, eNUVIO aims to accelerate research in neurodegeneration. Applying new approaches developed in-house, they create state-of-the-art microfabricated consumables designed for use in cell culture. Their products fulfill the need for novel and suitable tools and assays that can take advantage of emerging biological technologies such as stem cells and 3D culture systems. The technologies are also specially designed to be easily adapted to high-throughput screening tests in the pharmaceutical industry. eNUVIO also offers fully customized contract research services. Their team of scientists specializes in human-relevant in vitro disease models featuring: AXOTOMY // NEURONAL EXCITOTOXICITY // NEURONAL PROPAGATION AXON GUIDANCE AND CHEMOTAXIS 3D MUSCLE CULTURES // NEUROMUSCULAR JUNCTION MODELS (2D-3D) NEURAL SPHEROIDS With a strong focus on neurodegenerative and neuromuscular disease models for preclinical services, eNUVIO is here to help you take your research to the next level.

NC Biologics Consulting offers assay development, assay validation, drug product testing, PK/PD, and clinical testing support services.

Research centre for cancer, neurosciences and translational medicine The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center established in 2004. Its stakeholders are Bellvitge University Hospital and Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, University of Barcelona and the town council of L’Hospitalet de Llobregat. IDIBELL is located in L’Hospitalet de Llobregat, south of Barcelona. It is a member of the Campus of International Excellence of the University of Barcelona HUBc and part of the CERCA institution of the Generalitat of Catalonia. In 2009, it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Institute of Health. A key aspect of research in IDIBELL is its proximity to the patient. Because of its location and the healthcare activity that many of its researchers carry out, IDIBELL research groups can identify which problems are really priority and which solutions are effective in daily clinical practice.

Pharmometrica is created for the specific purpose of being an authorized third party for interchangeability of Bioequivalence tests of medicines for human consumption certified by COFEPRIS. It should be a strategic ally of the Pharmaceutical Industry; advise and accompany beforehand, during and after the process of interchangeability studies for an effective, ethical and scientific way in order to reach bioequivalence.

Altis Biosystems is a biotechnology company, which has developed a stem cell platform, named RepliGut, recreating both the small or large human intestinal epithelium for drug testing and microbiome research. Our primary stem cells proliferate into all of the normal differentiated cells that you would expect to see in the intestinal epithelium in both a planar or crypt/villus format. It is meant to replace Caco-2 cells and reduce the need for animal testing, for compound screening, during preclinical studies. Altis provides a number of serivces using this platform and sells it to pharmaceutical companies and contract research organizations. Our goal is to make drug discovery faster, cheaper, safer and reduce the need for animal testing. The form factor for our product is an SBS format multiwell plate, which allows us to provide up to 96 different tissue samples on one kit. Altis created a biobank of stem cells from a wide range of different genotypes to offer a more custom-tailored product for its customers. Customers will be able to select a variety of different genotypes that suit their needs and have one or several genotypes on the same kit or multiple kits. RepliGut is suitable for a variety of drug screening studies, including cytokine secretion, transport, toxicity, wound healing, etc., and easy integration into existing automated and high-content screening modalities. No commercially available system using primary human intestinal epithelium exists that meets the rigorous standards of reproducibility and throughput required by the pharmaceutical industry.