Article Series Offers Look at Impacts of Rare Diseases Research

Mustafa Sahin, MD, PhD, with a patientThis ongoing series on the impacts of the Rare Diseases Clinical Research Network (RDCRN) and its 20 consortia—teams of researchers, patients, and clinicians—offers a window into rare diseases research. It tells the story of each consortium’s work from their perspective, amplifying the voices of researchers, patients, and patient advocates focused on a group of related rare diseases.

The RDCRN fosters collaborative research. We are working to better understand how particular rare diseases progress and to develop improved approaches for diagnosis and treatment. We invite you to read these articles and share them with others. If you’re on social media, the hashtag #RDCRN will help you find, follow, and contribute to this conversation. You can also subscribe to the Spotlight Newsletter to receive quarterly updates in your inbox.

The Fynan family posing on a beach

Patient Spotlight: Fynan Family Fueled by OI Research
November 16, 2021
Michelle Fynan, PhD, LMHC, is a mother of two daughters, age seven and four. She and her daughters are diagnosed with osteogenesis imperfecta (OI) type I, the mildest form of OI, which is characterized by bone fractures that often result from minor trauma. Here, Michelle shares her journey with OI, from adolescent struggles to finding her purpose as an OI activist and researcher.

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Headshot of Chaya Nautiyal Murali, MD

Early-Stage Investigator Spotlight: Chaya Nautiyal Murali Gets Creative with Osteogenesis Imperfecta Research
November 09, 2021
Chaya Nautiyal Murali, MD, is a pediatric geneticist at Baylor College of Medicine and a member of the Brittle Bone Disorders Consortium (BBDC). She is also an accomplished essayist, using her creative writing skills to highlight themes of identity, inheritance, and family through the lenses of immigration and genetics. Here, she shares her start in rare disease research, exciting discoveries, and future goals.

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Members of the Brittle Bone Disorders Consortium

Consortium Spotlight: Advancing Discoveries in Brittle Bone Disorders
November 03, 2021
The Brittle Bone Disorders Consortium (BBDC) brings together physicians, researchers, and educators to learn more about osteogenesis imperfecta (OI), a genetic disorder that mainly affects the development of the bones. The goal is to develop new and better treatments for patients with OI. Here, principal investigator Brendan Lee, MD, PhD, and Vernon Sutton, MD, share the history of the consortium, current research, and future plans.

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Headshot of Connie Lee, PsyD

Patient Advocate Spotlight: Connie Lee Creates Connections for Cerebral Cavernous Malformation Research
October 26, 2021
Connie Lee, PsyD, is president and CEO of the Angioma Alliance and a member of the Brain Vascular Malformation Consortium (BVMC). She is also a licensed clinical psychologist and the mother of a daughter with multiple cavernous angiomas. Here, she shares her start in patient advocacy, current work, and future goals.

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Headshot of Anthony Anzell, PhD

Patient Spotlight: Anthony Anzell Fights Hereditary Hemorrhagic Telangiectasia with Endurance and Education
October 19, 2021
Anthony Anzell, PhD, is a postdoctoral fellow at the University of Pittsburgh studying hereditary hemorrhagic telangiectasia (HHT). He also happens to be an HHT patient. Here, Dr. Anzell shares his HHT journey, from diagnosis, to ultramarathons, to the lab.

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Headshot of Douglas Marchuk, PhD

Senior Researcher Spotlight: Douglas Marchuk Leads Disease-Gene Discoveries in Brain Vascular Malformations
October 13, 2021
Douglas Marchuk, PhD, is the director of the Division of Human Genetics at Duke University and member of the Brain Vascular Malformation Consortium (BVMC). His laboratory studies the genetics of cardiovascular disease using both the human and the mouse as a model system, primarily focusing on inherited diseases of vascular dysplasia. Here, he shares his start in rare disease research, exciting discoveries, and future goals.

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Headshot of Helen Kim, PhD

Consortium Spotlight: Advancing Discoveries in Brain Vascular Malformations
October 07, 2021
Since its initial funding in 2009, the Brain Vascular Malformation Consortium (BVMC) has conducted clinical research and improved the care of patients with brain vascular malformations, conditions in which blood vessels of the brain are affected. Here, Helen Kim, PhD, principal investigator of the BVMC, shares the history of the consortium, current research, and future plans.

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Headshot of Girish Hiremath, MD, MPH

Early Stage Investigator Spotlight: Girish Hiremath Explores the Epidemiology of Eosinophilic Gastrointestinal Diseases
March 04, 2022
Girish Hiremath, MD, MPH, is a pediatric gastroenterologist leading the pediatric Eosinophilic Gastrointestinal Disorders clinic at Vanderbilt University. He is also a member of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). Dr. Hiremath’s research focuses on the epidemiology, pathogenesis, diagnosis, and management of eosinophilic gastrointestinal diseases (EGIDs). Here, he shares his start in rare disease research, exciting discoveries, and future goals.

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CEGIR studies rare diseases called Eosinophilic Gastrointestinal Disorders (EGIDs). CEGIR: Consortium of Eosinophilic Gastrointestinal Disease Researchers

Learn About CEGIR in Overview Video
November 04, 2021
The Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) is dedicated to improving the lives of individuals with eosinophilic gastrointestinal disorders (EGIDs). Learn more about CEGIR in this overview video.

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Marc Rothenberg, MD, PhD, in the lab

Scientist Spotlight: Marc Rothenberg Leads Eosinophilic Collaboration and Research to New Discoveries
October 07, 2021
Marc Rothenberg, MD, PhD, is the director of the Cincinnati Center for Eosinophilic Disorders (CCED) at Cincinnati Children’s Hospital Medical Center and principal investigator of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). In his clinical practice and research work, he focuses on solving the mysteries of allergic inflammatory diseases, especially eosinophilic gastrointestinal disorders (EGIDs). Here, he shares his inspirations for studying rare diseases, recent discoveries, and future plans.

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Patients and researchers affiliated with the Consortium of Eosinophilic Gastrointestinal Disease Researchers, CEGIR

Patients Power Research in Eosinophilic Gastrointestinal Disorders
February 24, 2020
A strong collaboration between researchers and patient advocacy groups in the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) is demonstrating how partnering with patients can accelerate discoveries for rare diseases. CEGIR’s team includes three main patient advocacy groups (the American Partnership for Eosinophilic Disorders, Campaign Urging Research for Eosinophilic Diseases, and the Eosinophilic Family Coalition) with 11 patient advocacy groups in total.

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CPIC Central Unit personnel

Consortium Spotlight: New Consortium Targets Congenital and Perinatal Infections
January 26, 2021
The Congenital and Perinatal Infections Consortium (CPIC) brings together a coalition of 29 academic medical centers that have a longstanding history of research in pediatric infectious diseases with community and industry stakeholders. It is one of five new consortia to join the Rare Diseases Clinical Research Network in the latest funding cycle. Here, CPIC leaders share insights on the group’s goals, research projects, and next steps.

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Headshot of Mark Rudolph

Patient Advocate Spotlight: Mark Rudolph Supports and Connects the Dystonia Community
May 17, 2022
Mark Rudolph serves as president of the Dystonia Medical Research Foundation (DMRF), a patient advocacy group that supports individuals and families affected by dystonia. The dystonias are a large group of movement disorders causing uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. Here, he shares his journey to rare disease advocacy, impactful work by the DMRF, and collaboration with the Dystonia Coalition (DC).

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Headshot of David Peterson, PhD

Senior Researcher Spotlight: David Peterson Develops Innovative Technologies for Dystonia
May 10, 2022
David Peterson, PhD, is an Associate Research Scientist at the Institute for Neural Computation, University of California San Diego (UCSD); Director of the Computational Neurology Center at UCSD; and a member of the Dystonia Coalition (DC). His research focuses on improving outcomes for patients with dystonia, a large group of movement disorders causing uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. Here, he shares his start in rare disease research, exciting discoveries, and future goals.

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Dystonia Coalition logo

Consortium Spotlight: Advancing Discoveries in the Dystonias
May 05, 2022
The Dystonia Coalition is an international network of researchers and patient advocacy groups working to advance the pace of research in the dystonias, find better treatments, and ultimately a cure. Here, program manager Gamze Kilic Berkmen, PhD, and principal investigator Hyder Jinnah, MD, PhD, share the history of the consortium, current research, and future plans.

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Headshot of Siddharth Srivastava, MD

Early Stage Investigator Spotlight: Siddharth Srivastava Investigates Genetic Causes of Neurodevelopmental Disorders
April 21, 2022
Siddharth Srivastava, MD, is a pediatric neurologist at Boston Children's Hospital specializing in neurogenetics. He is also a member of the Developmental Synaptopathies Consortium (DSC). Dr. Srivastava’s research focuses on neurodevelopmental phenotyping and biomarker discovery in Phelan-McDermid syndrome (PMS), tuberous sclerosis complex (TSC), and PTEN hamartoma tumor syndrome (PHTS). Here, he shares his start in rare disease research, exciting discoveries, and future goals.

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Developmental Synaptopathies Consortium logo

Consortium Spotlight: Advancing Discoveries in Neurodevelopmental Disorders
April 14, 2021
The Developmental Synaptopathies Consortium (DSC) is a network of experts studying three rare genetic syndromes—tuberous sclerosis complex (TSC), Phelan-McDermid syndrome (PMS), and PTEN hamartoma tumor syndrome (PHTS)—that often cause autism spectrum disorder and intellectual disability. Here, program manager Rajna Filip-Dhima, MS, and principal investigator Mustafa Sahin, MD, PhD, share the history of the consortium, current research, and future plans.

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Headshot of Billy Antonc

Patient Spotlight: Billy Anton Balances Management and Lifestyle with Primary Ciliary Dyskinesia
March 29, 2022
Billy Anton is a business professional and vice chair of the PCD Foundation Board of Directors. He is also diagnosed with primary ciliary dyskinesia (PCD), an inherited condition in which mucociliary clearance of the lungs is impaired, causing recurrent infections that may lead to hearing loss, chronic cough, severe lung damage, and bronchiectasis (irreversible scarring and dilation of the bronchi). Here, Billy shares his journey with PCD, from early diagnosis to getting involved in research and patient advocacy.

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Headshot of BreAnna Kinghorn, MD, MS

Early Stage Investigator Spotlight: BreAnna Kinghorn Improves Outcomes for Children with Primary Ciliary Dyskinesia
March 22, 2021
BreAnna Kinghorn, MD, MS, is an assistant professor in pediatric pulmonary and sleep medicine at Seattle Children's Hospital and the University of Washington School of Medicine. She is also a member of the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). Dr. Kinghorn’s research focuses on improving outcomes for children with primary ciliary dyskinesia (PCD). Here, she shares her start in rare disease research, exciting discoveries, and future goals.

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Genetic Disorders of Mucociliary Clearance Consortium logo

Consortium Spotlight: Advancing Discoveries in Mucociliary Clearance Diseases
March 11, 2021
The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) is a network of experts working together to better understand rare and genetic conditions leading to impairments in lung defenses and suppurative respiratory disorders, including primary ciliary dyskinesia, cystic fibrosis, primary immunodeficiencies, and idiopathic bronchiectasis. Here, principal investigators Stephanie Davis, MD, and Thomas Ferkol, MD, share the history of the consortium, current research, and future plans.

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Headshot of Felipe Polo-Wood

Patient Spotlight: Felipe Polo-Wood Forges Ahead with Myasthenia Gravis
February 25, 2022
Felipe Polo-Wood is an innovator—both in his work as an IT consultant and as a patient with myasthenia gravis (MG), a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Here, Felipe shares his journey with MG, from fighting for a diagnosis to making a difference through research participation.

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Headshot of Linda Kusner, PhD

Senior Researcher Spotlight: Linda Kusner Explores the Biology Behind Myasthenia Gravis
February 25, 2021
Linda Kusner, PhD, is a research professor of pharmacology, physiology, genomics, and precision medicine at the George Washington University School of Medicine and Health Sciences, as well as a member of the Myasthenia Gravis Rare Disease Network (MGNet). Her research focuses on the understanding of extraocular muscle physiology and response to disease, including myasthenia gravis (MG). Here, she shares her start in rare disease research, exciting discoveries, and future goals.

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Headshot of Danielle Arnold, MD

Early Stage Investigator Spotlight: Danielle Arnold Explores Transplant Strategies for Primary Immune Deficiencies
January 19, 2022
Danielle Arnold, MD, is an attending transplant physician at the National Institutes of Health. She is also a member of the Primary Immune Deficiency Treatment Consortium (PIDTC). Her research focuses on improving transplant outcomes for patients with primary immune deficiencies and immune regulatory disorders. Here, she shares her start in rare disease research, exciting discoveries, and future goals.

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Mitchell Magyar with his mother and sister, wearing sunglasses and smiling

Patient Spotlight: Mitchell Magyar Makes an Impact on Urea Cycle Disorder Research
December 12, 2021
Mitchell Magyar is a 13-year-old who loves golf, hiking, archery, riding his bike, and playing video games with his friends. He is also diagnosed with argininosuccinic aciduria (ASA), a type of urea cycle disorder. Here, his mother Amy Magyar shares their journey with ASA, from diagnosis to getting involved with advocacy and research participation.

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Headshots of Ayelet Erez, MD, PhD; Eric Crombez, MD; Lindsay Burrage, MD, PhD; Sandesh Nagamani, MD; Andrea Gropman, MD

Early Investigator Spotlight: UCDC Trainees Drive Discoveries in Urea Cycle Disorders
December 09, 2021
The Urea Cycle Disorders Consortium (UCDC) is an original member of the Rare Diseases Clinical Research Network (RCDRN) family, having been part of the Network since its inception in 2003. Now in its 18th year, it is a leader among the consortia, having introduced a number of innovations in training and relationship to the pharmaceutical industry. It has codified its collective knowledge of the urea cycle disorders and identified gaps in our understanding, filling many of these gaps in the more than 100 peer-reviewed publications that have emanated from it.

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Urea Cycle Disorders Consortium logo

Consortium Spotlight: Advancing Discoveries in Urea Cycle Disorders
December 03, 2021
The Urea Cycle Disorders Consortium (UCDC), now in its fourth cycle of funding, is one of the original Rare Diseases Clinical Research Network (RDCRN) consortia. When originally established, the UCDC had five sites; it is now an international network of 16 academic centers (13 in the US, one in Canada, and two in Europe) with 38 faculty investigators and 25 research staff members providing state-of-the-art care and conducting innovative clinical research in urea cycle disorders (UCD).

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