NORD Rare Disease Centers of Excellence: A new network seeks to break down barriers in rare disease care

In November 2021, the National Organization for Rare Disorders (NORD) announced that it had designated 31 institutions across the United States as “NORD Rare Disease Centers of Excellence.” More than just a stamp of approval, the new NORD network aims to change the way rare diseases are diagnosed and treated, creating more efficient pathways for collaboration among physicians, while helping patients get better care closer to home.

To understand better how the nascent network can benefit patients and clinicians, Neurology Reviews/MDedge Neurology spoke with Ed Neilan, MD, PhD, NORD’s chief scientific and medical officer. Dr. Neilan, a pediatrician and geneticist, is a former president of the medical staff at Boston Children’s Hospital and also served as head of global medical affairs for rare neurology at Sanofi Genzyme.

How did NORD choose its 31 centers?

We were looking for places that had both broad capabilities and deep expertise, where it was reasonable to expect that a patient with almost any condition could go and, without too many missteps or delays, get the right diagnosis or the right treatment. We also sought sites that were educating the next generation of rare disease specialists across departments. The sites had to be involved in research, because that moves the field forward, and sometimes it’s the only way to get a really impactful treatment for the 95% of rare diseases that don’t have an FDA-approved treatment. NORD sent a letter inviting different centers to apply, along with an application that had 120 questions. Most of the questions sought information about what kinds of expertise or services were available on-site, so that patients don’t have to go elsewhere to get, let’s say, a brain MRI scan or to see an immunologist. We wanted each site to be a place where you could go for almost any problem, at any age, and expect that while you’re being seen, and receiving treatment, it can also contribute to the education of the next generation of rare disease specialists and to research.

Several of the members of the network comprise more than one institution: They’re a children’s hospital combined with another facility.

Children’s hospitals, which are highly specialized and able to care for rare things in children, couldn’t apply by themselves. They had to apply in partnership with a center that could provide adult care as patients got older; otherwise, their care model would be incomplete. We’ve had some small victories already just by asking these questions and outlining this sort of approach. At one institution in the Great Plains, the director told us that he had been trying for years to get permission to hire someone who could make appointments across three different hospitals – a children’s hospital and two adult hospitals. He’d wanted to ensure that patients with rare and genetic diseases were seen in the appropriate places, and thanks to the NORD designation, he finally can. Now, regardless of age, the same office staff can handle the arrangements, and the patient will be scheduled in the right place.

You make clear that these are different from disease-specific centers of excellence – you specifically chose the 31 centers for their breadth of expertise. There’s no way to represent all 7,000 rare diseases equally, and disease-specific centers of excellence, which already exist for hemophilia, muscular dystrophy, cystic fibrosis, and some other conditions, have a very important role. We’re not aiming to compete with any other existing resources. What we are seeking to do is to fill the unmet need of, “What if there are no such designations for the disease that you’re concerned about?” Our goal was to find places that could help with unanswered questions, whether diagnostic questions or treatment questions. To identify places where a patient could reasonably expect to go and have a deeper dive – maybe an interdisciplinary deep dive.

The delay to diagnosis can be years in rare diseases. How can the network help speed up diagnoses?

With all these experts on different diseases, we hope to develop some better diagnostic algorithms within the network. Another thing we can do is to share resources. With 31 sites, everybody’s seeing patients with unknown diagnoses. Everyone is seeing patients for whom they would maybe like to get a whole genome done, or a whole exome done, but they are often encountering stiff resistance from insurance companies.

Meanwhile some sites, but not all 31, have multimillion-dollar grants to do sequencing and other kinds of advanced diagnostic tests to solve unknown cases. And there are people at those sites who say, “We need more samples. Can you get us samples from the other sites?”

One of the main things we aim to do is share information, including information about available diagnostic resources. We want all 31 sites to know which sites have funding and programs that enable them to study samples for other sites. We also want to know what criteria they’re putting on it. Someone might say: “I’ve got a grant to sequence genomes for people with unexplained seizures. Send me all your unexplained seizures.” Somebody else might have a grant for unexplained GI diseases. So, we want to put on our intranet a resource for the 31 sites, kind of a cookbook for – when if you can’t get it paid for by insurance, but you really think you need a particular special test – who might be able to do it for you within the network.

This would seem to benefit research across sites as well.

Yes, but we also want to share clinical advice and expertise for direct patient benefit. So, it doesn’t always have to fulfill the goals of a specific research project. For example, we might be able to create an undiagnosed patient quality improvement database across all 31 sites that could compliantly let Drs. X and Y know that they’re each seeing a patient with the same rare thing.

But let’s say you want to move the field forward by discovering a new disease. Rare genetic diseases are now being discovered at the rate of about 250 a year, so about 5 per week across the world. With two or three unrelated patients who have the same disease and a whole exome sequence, you can potentially discover a disease. Maybe you’ve found one unique patient with a genetic variant of possible significance, but you can’t be 100% sure, and you may not be able to convince your colleagues, or journal editors, until you find other cases. You need those two or three ultrarare patients. Within this network, a lot of sites want to share information about their ultrarare patients and be able to put together additional instances of the same thing, to prove that it is a real disease, to learn more about it and how to diagnose, manage, and treat it.

Part of the idea with a nationwide network is that patients aren’t going to have to move around among these centers of excellence, is that correct? They’re going to be seen at the closest ones, and it’s the expertise that is mobile.

Yes, that’s right. While we can’t eliminate the need for travel, what we are trying to do is increase the sharing of expertise, to improve results for patients while limiting the need for traveling very long distances. As a geneticist I’ve been on both the requesting and the receiving end of consultations with doctors at other sites, sometimes very far away, especially for ultrarare conditions for which any one physician’s experience is limited. We all try to honor these sorts of requests, but insurance doesn’t reimburse it and so hospitals don’t give doctors much credit for it.

We want to ultimately find ways to incentivize this type of collaboration. Hopefully we can get agreements with insurance companies to allow intersite consultations within our network, recognizing that they don’t want to pay for the patient to be seen out of state, but you also want the patient to get the best possible medical advice. This might require legislative changes in the long run. But what we can do more readily is create a culture within this network of mutual consultation and sharing of clinical experience. Outside of such a network, the idea of “cold calling” somebody, whom you may never have met, and asking them for help and free advice is a little bit of a bar, right? We want to lower that bar.

Can patients get telemedicine consults with physicians across the network?

NORD supports having telemedicine options for everybody regardless of diagnosis, rare or not, and we support legislation that would continue access and reimbursement for telemedicine post pandemic. I hope we can get that, or at least preserve telemedicine for rare diseases, for which there are often not enough, or sometimes not any, expert providers in the same state. Ultimately, we want patients to be able to get the expert assessments and advice they need. For rare diseases, that sometimes means battling back and forth with an insurance provider, seeking permission to see an expert clinician a thousand miles away. By sharing medical expertise, and through telemedicine when that’s allowed, we hope to reduce the need for that. But the telemedicine environment is still evolving and somewhat uncertain.

How will the network’s physician collaborations take place?

One of the important things NORD is providing to the network is an information technology setup and intranet across the 31 sites. That intranet is where center staff will go to access the network’s internal resources, including live and recorded case conferences. In those case conferences you can present a case you haven’t been able to solve. Experts you may have only heard of by reputation will now be streamed to your computer as part of the nationwide network. It benefits the patient because you get additional expert opinions, but it also benefits the physicians because we have this collegial space for discussion and learning. We’ll be linked by frequent meetings – some in person, most virtual – a common culture, and a common intranet.

On the intranet, we will also have a growing set of useful databases, links, and documents that are available to all members. These will be progressively updated with help from experts at the centers, so that clinicians can more directly learn from each other, instead of separately reinventing the wheel. The way things usually work, when you see a patient with an ultrarare condition that you’re not that familiar with, is that you tell them what little you can, then schedule them to come back in a few weeks. In the meantime, usually in your off time, you spend hours searching PubMed and other sources and you try to piece things together, to figure out what’s known that might help your patient. But imagine that this has already been figured out by someone else in the network. You can see on the network a list of articles the other expert read and found helpful in addressing this problem. And you then reach out directly to that other expert.

In recent months you’ve had one-on-one meetings with all 31 directors at the sites, and after that you convened 11 working groups. What are you trying to achieve?

Once the sites were chosen, we aimed to talk quickly and honestly about what everyone needed, what everyone saw as the biggest problems to tackle in rare diseases. Two things were very rewarding about those phone calls: one, all the centers were very enthusiastic, and two, they pretty much all agreed on what the key unmet needs are for rare disease patients and the practitioners trying to help them. So, we empaneled working groups of expert volunteers enthusiastic to work on each of those problems. These groups collectively comprise more than 200 volunteers – faculty, staff, and trainees – from the different sites nationwide. Each group is working on a key unmet need in rare diseases, and each group will be given its own space on our file-sharing platform, where they can share information and co-develop new ideas and documents. When something they produce is good enough to start to be a practice resource, such as a draft treatment guideline that the working group now wants to try in the real world, but it’s not yet ready to be published, they can share it and have it tested by all 31 sites through the dedicated intranet we are building for the network.

Jennie Smith is a freelance journalist specializing in medicine and health.

In November 2021, the National Organization for Rare Disorders (NORD) announced that it had designated 31 institutions across the United States as “NORD Rare Disease Centers of Excellence.” More than just a stamp of approval, the new NORD network aims to change the way rare diseases are diagnosed and treated, creating more efficient pathways for collaboration among physicians, while helping patients get better care closer to home.

To understand better how the nascent network can benefit patients and clinicians, Neurology Reviews/MDedge Neurology spoke with Ed Neilan, MD, PhD, NORD’s chief scientific and medical officer. Dr. Neilan, a pediatrician and geneticist, is a former president of the medical staff at Boston Children’s Hospital and also served as head of global medical affairs for rare neurology at Sanofi Genzyme.

How did NORD choose its 31 centers?

We were looking for places that had both broad capabilities and deep expertise, where it was reasonable to expect that a patient with almost any condition could go and, without too many missteps or delays, get the right diagnosis or the right treatment. We also sought sites that were educating the next generation of rare disease specialists across departments. The sites had to be involved in research, because that moves the field forward, and sometimes it’s the only way to get a really impactful treatment for the 95% of rare diseases that don’t have an FDA-approved treatment. NORD sent a letter inviting different centers to apply, along with an application that had 120 questions. Most of the questions sought information about what kinds of expertise or services were available on-site, so that patients don’t have to go elsewhere to get, let’s say, a brain MRI scan or to see an immunologist. We wanted each site to be a place where you could go for almost any problem, at any age, and expect that while you’re being seen, and receiving treatment, it can also contribute to the education of the next generation of rare disease specialists and to research.

Several of the members of the network comprise more than one institution: They’re a children’s hospital combined with another facility.

Children’s hospitals, which are highly specialized and able to care for rare things in children, couldn’t apply by themselves. They had to apply in partnership with a center that could provide adult care as patients got older; otherwise, their care model would be incomplete. We’ve had some small victories already just by asking these questions and outlining this sort of approach. At one institution in the Great Plains, the director told us that he had been trying for years to get permission to hire someone who could make appointments across three different hospitals – a children’s hospital and two adult hospitals. He’d wanted to ensure that patients with rare and genetic diseases were seen in the appropriate places, and thanks to the NORD designation, he finally can. Now, regardless of age, the same office staff can handle the arrangements, and the patient will be scheduled in the right place.

You make clear that these are different from disease-specific centers of excellence – you specifically chose the 31 centers for their breadth of expertise. There’s no way to represent all 7,000 rare diseases equally, and disease-specific centers of excellence, which already exist for hemophilia, muscular dystrophy, cystic fibrosis, and some other conditions, have a very important role. We’re not aiming to compete with any other existing resources. What we are seeking to do is to fill the unmet need of, “What if there are no such designations for the disease that you’re concerned about?” Our goal was to find places that could help with unanswered questions, whether diagnostic questions or treatment questions. To identify places where a patient could reasonably expect to go and have a deeper dive – maybe an interdisciplinary deep dive.

The delay to diagnosis can be years in rare diseases. How can the network help speed up diagnoses?

With all these experts on different diseases, we hope to develop some better diagnostic algorithms within the network. Another thing we can do is to share resources. With 31 sites, everybody’s seeing patients with unknown diagnoses. Everyone is seeing patients for whom they would maybe like to get a whole genome done, or a whole exome done, but they are often encountering stiff resistance from insurance companies.

Meanwhile some sites, but not all 31, have multimillion-dollar grants to do sequencing and other kinds of advanced diagnostic tests to solve unknown cases. And there are people at those sites who say, “We need more samples. Can you get us samples from the other sites?”

One of the main things we aim to do is share information, including information about available diagnostic resources. We want all 31 sites to know which sites have funding and programs that enable them to study samples for other sites. We also want to know what criteria they’re putting on it. Someone might say: “I’ve got a grant to sequence genomes for people with unexplained seizures. Send me all your unexplained seizures.” Somebody else might have a grant for unexplained GI diseases. So, we want to put on our intranet a resource for the 31 sites, kind of a cookbook for – when if you can’t get it paid for by insurance, but you really think you need a particular special test – who might be able to do it for you within the network.

This would seem to benefit research across sites as well.

Yes, but we also want to share clinical advice and expertise for direct patient benefit. So, it doesn’t always have to fulfill the goals of a specific research project. For example, we might be able to create an undiagnosed patient quality improvement database across all 31 sites that could compliantly let Drs. X and Y know that they’re each seeing a patient with the same rare thing.

But let’s say you want to move the field forward by discovering a new disease. Rare genetic diseases are now being discovered at the rate of about 250 a year, so about 5 per week across the world. With two or three unrelated patients who have the same disease and a whole exome sequence, you can potentially discover a disease. Maybe you’ve found one unique patient with a genetic variant of possible significance, but you can’t be 100% sure, and you may not be able to convince your colleagues, or journal editors, until you find other cases. You need those two or three ultrarare patients. Within this network, a lot of sites want to share information about their ultrarare patients and be able to put together additional instances of the same thing, to prove that it is a real disease, to learn more about it and how to diagnose, manage, and treat it.

Part of the idea with a nationwide network is that patients aren’t going to have to move around among these centers of excellence, is that correct? They’re going to be seen at the closest ones, and it’s the expertise that is mobile.

Yes, that’s right. While we can’t eliminate the need for travel, what we are trying to do is increase the sharing of expertise, to improve results for patients while limiting the need for traveling very long distances. As a geneticist I’ve been on both the requesting and the receiving end of consultations with doctors at other sites, sometimes very far away, especially for ultrarare conditions for which any one physician’s experience is limited. We all try to honor these sorts of requests, but insurance doesn’t reimburse it and so hospitals don’t give doctors much credit for it.

We want to ultimately find ways to incentivize this type of collaboration. Hopefully we can get agreements with insurance companies to allow intersite consultations within our network, recognizing that they don’t want to pay for the patient to be seen out of state, but you also want the patient to get the best possible medical advice. This might require legislative changes in the long run. But what we can do more readily is create a culture within this network of mutual consultation and sharing of clinical experience. Outside of such a network, the idea of “cold calling” somebody, whom you may never have met, and asking them for help and free advice is a little bit of a bar, right? We want to lower that bar.

Can patients get telemedicine consults with physicians across the network?

NORD supports having telemedicine options for everybody regardless of diagnosis, rare or not, and we support legislation that would continue access and reimbursement for telemedicine post pandemic. I hope we can get that, or at least preserve telemedicine for rare diseases, for which there are often not enough, or sometimes not any, expert providers in the same state. Ultimately, we want patients to be able to get the expert assessments and advice they need. For rare diseases, that sometimes means battling back and forth with an insurance provider, seeking permission to see an expert clinician a thousand miles away. By sharing medical expertise, and through telemedicine when that’s allowed, we hope to reduce the need for that. But the telemedicine environment is still evolving and somewhat uncertain.

How will the network’s physician collaborations take place?

One of the important things NORD is providing to the network is an information technology setup and intranet across the 31 sites. That intranet is where center staff will go to access the network’s internal resources, including live and recorded case conferences. In those case conferences you can present a case you haven’t been able to solve. Experts you may have only heard of by reputation will now be streamed to your computer as part of the nationwide network. It benefits the patient because you get additional expert opinions, but it also benefits the physicians because we have this collegial space for discussion and learning. We’ll be linked by frequent meetings – some in person, most virtual – a common culture, and a common intranet.

On the intranet, we will also have a growing set of useful databases, links, and documents that are available to all members. These will be progressively updated with help from experts at the centers, so that clinicians can more directly learn from each other, instead of separately reinventing the wheel. The way things usually work, when you see a patient with an ultrarare condition that you’re not that familiar with, is that you tell them what little you can, then schedule them to come back in a few weeks. In the meantime, usually in your off time, you spend hours searching PubMed and other sources and you try to piece things together, to figure out what’s known that might help your patient. But imagine that this has already been figured out by someone else in the network. You can see on the network a list of articles the other expert read and found helpful in addressing this problem. And you then reach out directly to that other expert.

In recent months you’ve had one-on-one meetings with all 31 directors at the sites, and after that you convened 11 working groups. What are you trying to achieve?

Once the sites were chosen, we aimed to talk quickly and honestly about what everyone needed, what everyone saw as the biggest problems to tackle in rare diseases. Two things were very rewarding about those phone calls: one, all the centers were very enthusiastic, and two, they pretty much all agreed on what the key unmet needs are for rare disease patients and the practitioners trying to help them. So, we empaneled working groups of expert volunteers enthusiastic to work on each of those problems. These groups collectively comprise more than 200 volunteers – faculty, staff, and trainees – from the different sites nationwide. Each group is working on a key unmet need in rare diseases, and each group will be given its own space on our file-sharing platform, where they can share information and co-develop new ideas and documents. When something they produce is good enough to start to be a practice resource, such as a draft treatment guideline that the working group now wants to try in the real world, but it’s not yet ready to be published, they can share it and have it tested by all 31 sites through the dedicated intranet we are building for the network.

Jennie Smith is a freelance journalist specializing in medicine and health.

In November 2021, the National Organization for Rare Disorders (NORD) announced that it had designated 31 institutions across the United States as “NORD Rare Disease Centers of Excellence.” More than just a stamp of approval, the new NORD network aims to change the way rare diseases are diagnosed and treated, creating more efficient pathways for collaboration among physicians, while helping patients get better care closer to home.

To understand better how the nascent network can benefit patients and clinicians, Neurology Reviews/MDedge Neurology spoke with Ed Neilan, MD, PhD, NORD’s chief scientific and medical officer. Dr. Neilan, a pediatrician and geneticist, is a former president of the medical staff at Boston Children’s Hospital and also served as head of global medical affairs for rare neurology at Sanofi Genzyme.

How did NORD choose its 31 centers?

We were looking for places that had both broad capabilities and deep expertise, where it was reasonable to expect that a patient with almost any condition could go and, without too many missteps or delays, get the right diagnosis or the right treatment. We also sought sites that were educating the next generation of rare disease specialists across departments. The sites had to be involved in research, because that moves the field forward, and sometimes it’s the only way to get a really impactful treatment for the 95% of rare diseases that don’t have an FDA-approved treatment. NORD sent a letter inviting different centers to apply, along with an application that had 120 questions. Most of the questions sought information about what kinds of expertise or services were available on-site, so that patients don’t have to go elsewhere to get, let’s say, a brain MRI scan or to see an immunologist. We wanted each site to be a place where you could go for almost any problem, at any age, and expect that while you’re being seen, and receiving treatment, it can also contribute to the education of the next generation of rare disease specialists and to research.

Several of the members of the network comprise more than one institution: They’re a children’s hospital combined with another facility.

Children’s hospitals, which are highly specialized and able to care for rare things in children, couldn’t apply by themselves. They had to apply in partnership with a center that could provide adult care as patients got older; otherwise, their care model would be incomplete. We’ve had some small victories already just by asking these questions and outlining this sort of approach. At one institution in the Great Plains, the director told us that he had been trying for years to get permission to hire someone who could make appointments across three different hospitals – a children’s hospital and two adult hospitals. He’d wanted to ensure that patients with rare and genetic diseases were seen in the appropriate places, and thanks to the NORD designation, he finally can. Now, regardless of age, the same office staff can handle the arrangements, and the patient will be scheduled in the right place.

You make clear that these are different from disease-specific centers of excellence – you specifically chose the 31 centers for their breadth of expertise. There’s no way to represent all 7,000 rare diseases equally, and disease-specific centers of excellence, which already exist for hemophilia, muscular dystrophy, cystic fibrosis, and some other conditions, have a very important role. We’re not aiming to compete with any other existing resources. What we are seeking to do is to fill the unmet need of, “What if there are no such designations for the disease that you’re concerned about?” Our goal was to find places that could help with unanswered questions, whether diagnostic questions or treatment questions. To identify places where a patient could reasonably expect to go and have a deeper dive – maybe an interdisciplinary deep dive.

The delay to diagnosis can be years in rare diseases. How can the network help speed up diagnoses?

With all these experts on different diseases, we hope to develop some better diagnostic algorithms within the network. Another thing we can do is to share resources. With 31 sites, everybody’s seeing patients with unknown diagnoses. Everyone is seeing patients for whom they would maybe like to get a whole genome done, or a whole exome done, but they are often encountering stiff resistance from insurance companies.

Meanwhile some sites, but not all 31, have multimillion-dollar grants to do sequencing and other kinds of advanced diagnostic tests to solve unknown cases. And there are people at those sites who say, “We need more samples. Can you get us samples from the other sites?”

One of the main things we aim to do is share information, including information about available diagnostic resources. We want all 31 sites to know which sites have funding and programs that enable them to study samples for other sites. We also want to know what criteria they’re putting on it. Someone might say: “I’ve got a grant to sequence genomes for people with unexplained seizures. Send me all your unexplained seizures.” Somebody else might have a grant for unexplained GI diseases. So, we want to put on our intranet a resource for the 31 sites, kind of a cookbook for – when if you can’t get it paid for by insurance, but you really think you need a particular special test – who might be able to do it for you within the network.

This would seem to benefit research across sites as well.

Yes, but we also want to share clinical advice and expertise for direct patient benefit. So, it doesn’t always have to fulfill the goals of a specific research project. For example, we might be able to create an undiagnosed patient quality improvement database across all 31 sites that could compliantly let Drs. X and Y know that they’re each seeing a patient with the same rare thing.

But let’s say you want to move the field forward by discovering a new disease. Rare genetic diseases are now being discovered at the rate of about 250 a year, so about 5 per week across the world. With two or three unrelated patients who have the same disease and a whole exome sequence, you can potentially discover a disease. Maybe you’ve found one unique patient with a genetic variant of possible significance, but you can’t be 100% sure, and you may not be able to convince your colleagues, or journal editors, until you find other cases. You need those two or three ultrarare patients. Within this network, a lot of sites want to share information about their ultrarare patients and be able to put together additional instances of the same thing, to prove that it is a real disease, to learn more about it and how to diagnose, manage, and treat it.

Part of the idea with a nationwide network is that patients aren’t going to have to move around among these centers of excellence, is that correct? They’re going to be seen at the closest ones, and it’s the expertise that is mobile.

Yes, that’s right. While we can’t eliminate the need for travel, what we are trying to do is increase the sharing of expertise, to improve results for patients while limiting the need for traveling very long distances. As a geneticist I’ve been on both the requesting and the receiving end of consultations with doctors at other sites, sometimes very far away, especially for ultrarare conditions for which any one physician’s experience is limited. We all try to honor these sorts of requests, but insurance doesn’t reimburse it and so hospitals don’t give doctors much credit for it.

We want to ultimately find ways to incentivize this type of collaboration. Hopefully we can get agreements with insurance companies to allow intersite consultations within our network, recognizing that they don’t want to pay for the patient to be seen out of state, but you also want the patient to get the best possible medical advice. This might require legislative changes in the long run. But what we can do more readily is create a culture within this network of mutual consultation and sharing of clinical experience. Outside of such a network, the idea of “cold calling” somebody, whom you may never have met, and asking them for help and free advice is a little bit of a bar, right? We want to lower that bar.

Can patients get telemedicine consults with physicians across the network?

NORD supports having telemedicine options for everybody regardless of diagnosis, rare or not, and we support legislation that would continue access and reimbursement for telemedicine post pandemic. I hope we can get that, or at least preserve telemedicine for rare diseases, for which there are often not enough, or sometimes not any, expert providers in the same state. Ultimately, we want patients to be able to get the expert assessments and advice they need. For rare diseases, that sometimes means battling back and forth with an insurance provider, seeking permission to see an expert clinician a thousand miles away. By sharing medical expertise, and through telemedicine when that’s allowed, we hope to reduce the need for that. But the telemedicine environment is still evolving and somewhat uncertain.

How will the network’s physician collaborations take place?

One of the important things NORD is providing to the network is an information technology setup and intranet across the 31 sites. That intranet is where center staff will go to access the network’s internal resources, including live and recorded case conferences. In those case conferences you can present a case you haven’t been able to solve. Experts you may have only heard of by reputation will now be streamed to your computer as part of the nationwide network. It benefits the patient because you get additional expert opinions, but it also benefits the physicians because we have this collegial space for discussion and learning. We’ll be linked by frequent meetings – some in person, most virtual – a common culture, and a common intranet.

On the intranet, we will also have a growing set of useful databases, links, and documents that are available to all members. These will be progressively updated with help from experts at the centers, so that clinicians can more directly learn from each other, instead of separately reinventing the wheel. The way things usually work, when you see a patient with an ultrarare condition that you’re not that familiar with, is that you tell them what little you can, then schedule them to come back in a few weeks. In the meantime, usually in your off time, you spend hours searching PubMed and other sources and you try to piece things together, to figure out what’s known that might help your patient. But imagine that this has already been figured out by someone else in the network. You can see on the network a list of articles the other expert read and found helpful in addressing this problem. And you then reach out directly to that other expert.

In recent months you’ve had one-on-one meetings with all 31 directors at the sites, and after that you convened 11 working groups. What are you trying to achieve?

Once the sites were chosen, we aimed to talk quickly and honestly about what everyone needed, what everyone saw as the biggest problems to tackle in rare diseases. Two things were very rewarding about those phone calls: one, all the centers were very enthusiastic, and two, they pretty much all agreed on what the key unmet needs are for rare disease patients and the practitioners trying to help them. So, we empaneled working groups of expert volunteers enthusiastic to work on each of those problems. These groups collectively comprise more than 200 volunteers – faculty, staff, and trainees – from the different sites nationwide. Each group is working on a key unmet need in rare diseases, and each group will be given its own space on our file-sharing platform, where they can share information and co-develop new ideas and documents. When something they produce is good enough to start to be a practice resource, such as a draft treatment guideline that the working group now wants to try in the real world, but it’s not yet ready to be published, they can share it and have it tested by all 31 sites through the dedicated intranet we are building for the network.

Jennie Smith is a freelance journalist specializing in medicine and health.