Applications Now Available for Medical Centers To Be Considered For NORD Rare Disease Center of Excellence Designation

Thank you for your interest in the becoming part of the NORD Rare Disease Center of Excellence Program (NORD RD CoE). We are pleased to announce our second application cycle. The information below includes how to request an application, important dates and deadlines, and an FAQ section.

Please note – the application is only for medical institutions that wish to be considered to become a designated NORD RD CoE. Appointments for rare disease patients to be seen at any of the Centers must be made through the specific NORD RD CoE. The contact information for the current NORD RD CoE sites is available at Find a Center. NORD is not able to schedule appointments for any of the Centers.

Requesting an application: To request an application, please email us at [email protected]

The application became available on Thursday November 10th, 2022. We require the requesting person provide their institutional email address (i.e., we will not send applications to gmail, icloud, or other non-institutional email accounts).

Application question correction: Section 1, question 4 (page 10) should read “Describe any clinically oriented, rare disease-focused teaching programs for non-genetic specialists or early career clinicians. (currently reads non-specialists instead of non-genetic specialists)

Submission date: Thursday, February 23rd, 2023 at 11:59 PM PT is the deadline for submission of a completed application and required letters of support.

Information and Q&A Sessions: These sessions will be recorded and access to recordings will be available upon request.

  • Virtual Information Session about the Program and the application process took place on November 16th, please request access to recording at [email protected]
  • Virtual Q&A Session (aka Open Office Hours) took place on November 30th, please request access to recording at [email protected]

Questions about the application:  Please email us at [email protected]

Notification of Decisions: Decision notifications will be shared with each applicant mid Spring 2023. The newly designated RD CoE sites will be announced publicly in late Spring 2023

NORD RD CoE Application Frequently Asked Questions

Each of the currently designated NORD RD CoE sites was selected because it has an extensive array of experts covering all medical specialties required for the diagnosis and treatment of a broad range of rare diseases for both children and adults and has demonstrated a strong commitment to supporting all stages of rare disease research, with the goals of increasing our knowledge of disease etiology and pathophysiology, improving diagnostic techniques, and developing rare disease treatments and cures. In addition to dedication to increasing research and care, each Director/Co-Director and NORD RD CoE site is also dedicated to mentoring the next generation of rare disease clinicians/researchers and views the NORD RD CoE network as a powerful mechanism to engage and train fellows and junior faculty early in their careers. Successful applicants for the 2022-23 cycle will meet the same exceptional standards and criteria as the current NORD RD CoE.

Yes, all institutions applying to become a NORD RD CoE must be based in the United States. We are aware that there are other international efforts that support each country or region setting up their own network with the hopes of interconnecting the country/regional networks globally and we wish to support these efforts.

Similar to the first application, the majority of the application seeks to confirm whether or not the applicant Center has certain medical programs/services (e.g., adult and pediatric emergency rooms, dialysis, etc.), facilities & lab services, patient supportive services, adult specialists, and pediatric services important to rare disease patients. There will be about 10 essay questions that will allow you to highlight specific rare disease diagnostic and medical care services, rare disease focused research and collaborations, and education and training programs to build the next generation of rare disease specialists. Since all rare diseases are not genetic, it can strengthen the application if applicants also highlight rare disease programs or capabilities in other specialties (e.g., neurology, rheumatology, infectious disease, oncology). An exhaustive list is not required; however, we encourage applicants to reflect in their applications that that not all rare diseases are genetic.

Pediatric medical institutes are required to submit a joint application (a joint multisite application) with a similarly located medical institution serving adults (or serving both children and adults). More than two institutions may be part of a joint application. Similarly, a specialized institution, for example one focusing on cancer or neurological diseases, is required to submit a joint application with a medical institution that serves a broader range of rare diseases.

The Director of the applicant’s proposed NORD RD CoE should be a senior faculty member who is a champion of the Program and can gain approval for applying for the designation from the administration of the institution(s). The Director should also be enthusiastic about working collaboratively with other institutions to improve the lives of rare disease patients and families through care, research, advocacy, and education. Requirements of the Director include attending 4 Advisory Committee Meetings per year (1 in-person, 3 virtual) and willingness to engage with rare disease specialists both within and outside of genetics.

As you may notice on NORD Rare Disease Centers of Excellence – Find a Center, about half of the current NORD RD CoE sites have a co-director listed. In most cases, the co-director shares the directorship equally although one may be more research focused and the other more clinically focused. In a few cases, the co-director plays a supportive role and may be a more junior faculty member. We do strongly support having a director and co-director to provide consistency in the quarterly advisory committee meetings (e.g., if only one can make the meeting) and in the event the director moves to another institution or non-academic position. However, having a co-director is not a requirement.

Choosing a director or co-director outside of genetics is encouraged, since not all rare diseases are genetic; however, it is not a requirement.

Single Institution Applications require at least a single letter from senior institutional leadership (CEO, Dean, Physician-in-Chief, etc.). For Multi-Site Applications, one letter of support from senior leadership, e.g., the institution’s CEO/Chair/Dean, from each co-applying institution will suffice. As stated in the Application Instructions, we are seeking letters of support from this level to confirm investment and support in your program from your institution(s). An additional letter of support from the proposed Director/Co-Director for the RD CoE may also be submitted for consideration but cannot be submitted as a substitute for the letter from senior institution leadership.

For the application, you may use the open text narrative sections to highlight your Center’s unique areas of expertise. We encourage you to share expertise in non-genetic, as well as genetic, rare diseases. Areas of expertise can also be highlighted in letters of support.

The applicant should report on training or educational efforts with a rare disease focus available to non-genetic students, trainees, and clinicians, including medical school students, residents, fellows, community clinicians, and other medical and allied health care providers. Examples include, but are not limited to, a medical school or nursing program course focused on rare diseases, an optional rotation focused on rare diseases for pediatric residents, a rare disease practicum for MSW students, or CME activity with rare disease focus for community clinicians or non-genetic specialists.

The goal is to demonstrate training and teaching that leads to expanding rare disease awareness and knowledge among future and current non-genetic specialists and/or encourages students and trainees to pursue a career path in rare disease.

Question 5 in Section 1 is asking about the information and programs your institute(s) offer patients who are diagnosed with one or more rare diseases or are undiagnosed but suspected of having one or more rare diseases. This may include information taught to patients/families at the time a rare disease is diagnosed and/or throughout the management of the patient’s disease and lifetime. There may be special programs or educational resources to help patients understand special testing such as whole genome or exome sequencing, or learn more about what it means to become involved in research, or learn about new clinical therapies such as gene therapy. Or your institute may have disease-specific or symptom specific programs for patients who have an inborn error of metabolism or uncontrolled seizures, for example.

Question 6 in Section 1 targets educational and awareness programs that are available to the general populations of communities served by your institution(s), including those who are not necessarily patients of your institution(s). Answers to this question may highlight public events held by your institution(s) such as recurring rare disease or genetic educational programs at community or outreach centers or special webinars or podcasts. Your institute may hold events around Rare Disease Day. Or your institute might present or participate in community events organized by others, for example.

Please note: for both Question 5 & 6 in Section 1, please do not try to list every patient, caregiver or community rare disease educational shared-information, program, or event related to rare diseases supported by your institution. Providing 3-5 different examples for each question that demonstrate your institutions commitment to rare disease education is our recommendation.

Yes, we require every applicant to answer this question because adolescent to adult transition of care for rare disease patients can be challenging from the patient/caregiver perspective even within a single institution due to the complex nature of many rare diseases. For example, even if patients are followed throughout their lifetime for most genetic rare diseases within an institution’s medical genetics department, the patient may have health issues that are related or unrelated to their rare disease that require other specialties that separate pediatric and adult care. In most cases, the patients primary care doctor must change which can be especially challenging if the patient is severely intellectually disabled.

Thus, we encourage you to describe established relationships between pediatric specialists and adult specialists within the same institution or a separate adult care institution. Your answer should demonstrate an understanding of the complexity of transition from pediatric to adult care for many rare disease patients. You may wish to highlight established transition of care plans or programs, support programs provided to the patients as their needs and priorities shift as they become independent adults, and/or support programs for parents and guardians when the patient will remain dependent.

To the best of our knowledge, trauma centers may be designated or verified as specific levels, however a similar scale specifically for emergency rooms is not available. The question is being asked because many rare diseases are complex and can include acute crises that need to be managed quickly and expertly. Although the Trauma levels focus on injury, the assumption is that a center with an advanced Trauma level will also have an enhanced capability to manage a critically ill or very high-risk medical patient such as one experiencing a rare disease emergency. We understand this is not a perfect correlation, so we encourage applicants to demonstrate their capability of caring for a rare disease patient in an acute crisis if the Trauma levels of the applicant’s emergency room(s) is not Level 1 or 2.

For the purpose of the application, “Available Locally” refers to a facility/service outside the applicant institution(s) that is within the local metro area of the institution(s). This option is provided for certain related services that are important for the diagnosis and/or ongoing management for many rare disease patients.

“Send Out” is an option for certain laboratory tests when the applicant institution(s) do not have the capacity to perform the testing on site, but rather ship the locally collected specimen to a testing laboratory outside the institution(s). We are aware that not every center will be able to perform every laboratory test and that in many cases sending the specimens to an outside testing laboratory may be equivalent to having the capacity on site, so we also provide space for you to share turnaround times. These options are being used to determine if results are available in a timely manner for labs critical to patient management and care, particularly in emergencies.

To be counted, the test should be available as clinically reportable. That typically means through a CLIA certified lab with a formal reporting mechanism. We realize that there is still a lot of overlap between research sequencing and purely clinical testing; however, reported lab access should be for clinical tests (research-based tests can be mentioned in comments).

For Section 8 of the application, we require the clinical FTE, which is the number of provider equivalents (fractions allowed) dedicated to each specific type of clinical care. We have only requested cFTEs for a subset of the core specialties that we believe are vital for rare disease care. Please do not count as clinical set-aside FTE fractions for research or administrative time. For example, if your institution has 3 Board Certified/Eligible Medical Biochemical Geneticists and one is full-time clinical, one is 80% research + 20% clinical, and one is 50% clinical + 50% research, then your answer for Question 74 would then be “1.7” (representing 1 + 0.2 + 0.5 = 1.7 clinical FTE’s).

There is not a cap to the number of designated NORD RD CoE sites, but the standard is high, including a demonstrated commitment to high quality care for rare diseases, broad and deep medical expertise in multiple fields, and involvement in both rare disease research and training the next generation of rare disease experts. The final number of designated NORD RD CoE sites will depend on the scoring outcomes of the submitted application materials. The applicants in this round of the application cycle will be evaluated using the same standards and criteria as the inaugural application cycle in 2021.

NORD CoE will be required to recertify every 3 years. The process will include recertifying the information from their original application and provide any updates or new information, capabilities, or changes to their program. Recertification is not guaranteed, but we anticipate working through any issues that a Center may experience as the issues occur to support all those Centers in the Program to continue to meet the designation criteria.

NORD will provide feedback on the application to let centers know where there are opportunities to improve.

A key element of the NORD Rare Disease CoE program is that designated RD CoE sites will form a network through which expertise may be shared virtually and through in person meetings and events. These may include NORD conferences, as well as NORD RD CoE-specific meetings.

Great question. After we successfully onboard and integrate the newly designated Centers from this application cycle into our Program, we plan to have a rolling application submission process. In other words, in about 8-12 months from now, we hope to be in a position that we can make the application available on request and review individual applications as they are submitted.