Several resources may be able to assist in your search for a healthcare professional with experience in a particular condition:. How can I find a specialty treatment center? Treatment centers often have healthcare professionals of various specialties who work together. The resources listed below may help you locate a treatment center for your condition. How can I find a genetics clinic?
Genetics clinics are a source of information for individuals and families with a genetic condition. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Learn more about genetic consultations. How can I find a researcher who is studying my condition? Researchers who are studying a specific condition are another source for identifying an expert.
You may want to look for researchers who are conducting a clinical trial, as they are often medical doctors. In addition to asking for more information on their research, you can also find out if they see patients who are not enrolled in a study. If a researcher does not see patients, you may consider asking if they know a colleague who could help you. Some researchers publish periodic updates on their discoveries, and it may be possible for you to receive the latest information about their research. You may want to consider contacting a doctor at a university health center in your area, since university health centers tend to have the latest technology and treatments.
University health centers have doctors who are involved in clinical trials and who may work together with others to diagnose and treat patients.
Food and Drug Administration FDA and today there are approximately rare disease-focused clinical development projects in process. How to Find a Disease Specialist Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. Hal Foster is a veteran journalist at the Los Angeles Times and other news organizations in the United States and Japan, and a longtime journalism professor. While the information provided herein is believed to be accurate and reliable, Objective Capital Partners and BA Securities, LLC makes no representations or warranties, expressed or implied, as to the accuracy or completeness of such information. Technology and government aid are improving viability of rare disease cures. Treatment centers often have healthcare professionals of various specialties who work together. Researchers also said that the triple approach came out with a similar safety profile to chemo alone, a big added benefit for patients.
MedlinePlus , a website designed by the National Library of Medicine to help you research your health questions, provides links to directories to help you find health professionals, services and facilities. National Institutes of Health. Menu Search How to Find a Disease Specialist Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. How can I find a: Healthcare professional with experience in a specific condition?
Specialty treatment center? Genetics clinic? Researcher who is studying my condition? Several resources may be able to assist in your search for a healthcare professional with experience in a particular condition: Many disease advocacy organizations have medical advisory boards, physician locator services, or patient networks, all of which may help you find a healthcare professional who is familiar with a particular condition. NMOSD is a designated rare disease where the immune system cells and autoantibodies attack the optic nerve and spinal cord, often resulting in blindness, paraplegia, sensory loss, bladder dysfunction, and peripheral pain.
Leading with a rare disease drug candidate has not scared off the FDA or investors. In March Viela Bio announced a collaboration with Hansoh Pharma, which will be responsible for leading the development and commercialization of inebilizumab in China. American Gene Technologies is a cell and gene therapy company that utilizes a proprietary lentiviral platform to develop potential treatments for liver cancer, Phenylketonuria PKU , HIV and inherited genetic disorders.
PKU is an inherited, monogenetic disease that causes excess accumulation of the amino acid phenylalanine Phe , which can reach toxic levels in the blood without strict dietary control. Cerecor, Inc. Founded in , the company has brought numerous prescription medicines, prescription medical devices and dietary supplement products to the market. Its pipeline is robust and includes a host of rare disease treatments in early stage development.
Asklepion Pharmaceuticals is a biopharmaceutical company based that is exclusively focused on rare disease therapy development, specifically for rare pediatric diseases without viable treatments.
The company has shifted to focus exclusively to pediatric rare disease in recent years. Asklepion was founded in in an effort to commercialize a year academic program focused on developing cholic acid for inborn errors of bile acid metabolism, which is a rare genetic disorder. Its leading therapy candidate is for acute lung Injury induced by cardiopulmonary bypass surgery CBP , which recently completed Phase III clinical trial enrollment in July Cardiopulmonary bypass surgery can damage lung tissue and blood vessels, which can lead to significant postoperative problems. By intravenously administering the protein building block L- Citrulline pre-surgery, Asklepion believes that postoperative complications caused by CBP.
Founded in , Elixirgen Therapeutics, Inc. Dyskeratosis Congenita is a rare genetic disorder that causes bone marrow failure.
Value can come in the form of a patient being able to work who could not do so before; a patient caring for themselves or their family whose disease rendered them unable to do so before treatment; a patient who now attends school, furthering their education, who could not do so before. We are committed to responsibly pricing our products to reflect their value, and supporting patient access.
Laurin says, and that it also spurs innovation. When we first started to pursue the plasminogen congenital deficiency with Ryplazim, the clinical indication was pretty much limited to the unmet need in PLGD patients deficient from birth in plasminogen. But after a deep and thorough internal investigation on all the ramifications related to that specific protein and speaking to KOLs in this field, we realized the potential to investigate Ryplazim for other indications in which the body becomes acutely deficient in plasminogen, such as acute lung injury, and are now investigating it for several other indications.
Laurin says. Levin believes patients who have the opportunity to benefit from the wealth of innovation happening in the biotech and pharma industries should never have to suffer from lack of access to potential treatments due to cost. We take this dialogue very seriously and have, even in our early days, looked at patient access. We need to create compensation tools to reward successful pipeline investment, not just top-line growth and short-term stock appreciation.
Going forward, therefore, there will be increased focus on technologies that lead to disruptive treatments in rare disease. These technologies include imaging technologies, new genetic models, expression technologies, genetic manipulation, and novel cell models. Collectively, these technologies set the stage for totally disruptive treatments for the area of rare and orphan diseases of the brain.
Levin believes that for all of these technologies to be effective, having deep knowledge of the underlying causes of rare diseases will be a critical component in drug development for these conditions. This, in turn, will allow researchers to identify types of therapies that will be most impactful.
I hope we are able to do the same with rare diseases. Orphan and pediatric diseases represent some of the most severe conditions with high unmet medical needs and relatively few, if any, treatment options.
As technology is rapidly advancing, the industry will be able recognize more genetically defined diseases, says Robert Bazemore, president and CEO of Epizyme. This is a significant component of the broader trend toward personalized therapeutics and creates the foundation for applying rational drug design tools to develop innovative therapies, and potentially using a companion diagnostic to select the right patients for treatment. Bartolomeo says recent advancements in whole genome sequencing, including exome sequencing, will give more patients and their families the opportunity to receive accurate diagnoses of their conditions than ever before.
The future lies in big data technologies, Dr. Boyette adds. Mayer agrees that the industry is beginning to identify patients with rare diseases through the use of large data sets. These technologies have the potential to dramatically improve the way we identify and diagnose underserved patients with rare conditions. According to Mr.
Keller, three innovations will be key to expanding the focus on rare disease drug development: more efficient drug discovery, greater fidelity of the genomic etiology of disease, and innovative regulatory paths for these drugs. GigaGen has been focused on creating a platform that makes antibody discovery more efficient, shortening antibody discovery projects from a year to around six weeks by using the latest advances in microfluidic and genomic technologies.
Bazemore says as the collective understanding of genomics and epigenetics increases, there will likely be a great opportunity for innovation within genetically defined cancers. Tools that allow for a greater understanding of the genetic causes of disease have been accelerating the discovery of drugs for specific patient populations, Mr. Keller says. Cohen says there are likely to be many more drugs with novel mechanisms of action that address specific biological processes in these rare diseases.
Robinson points to work being done in cell and gene therapies and says technologies supporting regenerative medicine and the potential to address the underlying causes of different diseases will be transformative. Blum says gene-directed treatments may be disruptive but not always curative thereby opening the door for chronic care treatments for certain rare diseases once thought to be fatal.
Complementary treatments that extend survival, preserve quality of life, reduce functional decline, and treat symptoms will prove valuable. Mayer says one of the biggest advancements in medicine in general is personalized medicine, especially the ability to diagnose patients and personalize treatments through gene sequencing. Milano adds that while this type of disruption in treatment alternatives will confront many challenges around the economics and fundamental ways in which biotech and pharmaceutical companies are measured, the impact for patients is by far the most important factor and should be the driving force behind this pursuit.
Scientifically, the processes in exploring and understanding rare diseases have strong correlation with more common conditions, and the research contributes to understanding of body processes and pathways relevant to greater understanding of the pathology of common diseases. In some cases, this awareness, combined with better means of diagnosing patients and greater access to modernized electronic medical records in areas previously uncharted, demonstrates a greater global prevalence than was originally understood — for example, with celiac disease.