Institutional Application Submission For NORD RD CoE Designation Opened Monday May 12, 2025

The application became available by request on Monday, May 12^th. The deadline for submission of the completed application is 11:59 pm PT, Tuesday, August 5^th.

The results of the application will be communicated with each applicant in October. The newly designated RD CoE sites will be announced publicly in November after documentation has been completed.

Each of the currently designated NORD RD CoE sites was selected because it has an extensive array of experts covering all medical specialties (and sub-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 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 2025 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 global efforts.

The majority of the application seeks to confirm whether the applicant institution(s) has certain medical programs/services (e.g., adult and pediatric emergency rooms, dialysis, etc.), facilities & lab services, patient supportive services, adult specialists (and sub-specialists), and pediatric specialists (and sub-specialists) 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 application 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.

At least one 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(s) 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 in the NORD Rare Disease Centers of Excellence Directory, over half of the current NORD RD CoE sites have two Directors, and several have three. Due to a lot of confusion in our terminology for the first year, we no longer use the term “co-director”. If there is more than one Director at an RD CoE, they are all called Directors. Directors share more or less equal responsibility for the Program at their site. Sometimes one is more clinical, and another is more research focused. Sometimes the Directors of a site are all clinician/researchers. And sometimes, as in the case of Harvard and Johns Hopkins/KKI, the Directors represent the different institutions involved.

Some of the RD CoE sites also have Associate Directors (aka Deputy Directors). In this case the Associate Director plays a more supportive role. Again, sometimes the Associate Directors are more research focused, sometimes they are junior faculty or genetic counselors, and sometimes they are very senior faculty who want to be involved but more in a supportive role, often due to bandwidth.

During the application phase, you only need to declare the Director(s). If your application is successful, we will confirm who will serve as Director(s) and determine if you also wish to add any Associate Directors. Choosing a Director or Associate 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(s) 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 institution(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.

To answer Question 4 in Section 1, 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) offers 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 clinics 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.

Yes, we require every applicant to answer this question because the 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 rare genetic 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 will change which can be especially challenging if the patient is severely intellectually disabled.

We suggest in response to “What areas does your institution(s) focus on to improve patient satisfaction and experience?”, applicants highlight several areas of concern relevant to rare disease patients that you have a plan or pilot initiative to address. We encourage you to elaborate about how the concern relates to rare disease patients. We also encourage you to highlight areas of high patient satisfaction.

We suggest for the follow-up question, “For areas of improvement described in the response above, what measures have you put in place for improvement”, share the actual improvement plans or pilot initiatives being implemented to address the several concerns identified in the previous question, highlighting the benefit of the improvement plan for rare disease patients.

We are looking for answers that demonstrate a robust, patient-centric quality improvement program that is actionable and implemented when needed, with examples focused on rare disease patients.

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 applicants 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 applicant 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 1 in 2021 and Cycle 2 in 2022/2023.

NORD RD CoE will be recertified every 3 years. The process will include annually reporting that key services, specialties, programs, research, and training as reported in your original application continue to be available and providing any updates or new information, capabilities, or changes to your program. In addition, engagement in the Program activities and feedback from rare disease patients and surrounding medical centers will be considered.

Depending on changes that may have occurred, engagement, and feedback, a reapplication may be required. Recertification is not guaranteed.

NORD will provide feedback on the application to let applicants 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 include NORD RD CoE-specific meetings, case conferences, and working group meetings.

The short answer is yes, there will be an opportunity to apply in the future. The longer answer is we are working towards developing a modified rolling application process in which applications will be able to be requested and submitted at any time but will be reviewed twice a year. Our hope is to have the process solidified prior to the submission deadline for this cycle, so that those who miss the deadline will not need to wait two years to apply.

However, we do hope you apply now!