News from NORD

Children’s National Health System has announced the launch of a major three-year research study of undiagnosed diseases in partnership with the Regeneron Genetics Center. The research study will enroll thousands of pediatric patients and their families, and has the goal of investigating potential links between an individual’s disease and his/her genetic profile.

Children’s National Health System has announced the launch of a major three-year research study of undiagnosed diseases in partnership with the Regeneron Genetics Center. The research study will enroll thousands of pediatric patients and their families, and has the goal of investigating potential links between an individual’s disease and his/her genetic profile.

Children’s National Health System has announced the launch of a major three-year research study of undiagnosed diseases in partnership with the Regeneron Genetics Center. The research study will enroll thousands of pediatric patients and their families, and has the goal of investigating potential links between an individual’s disease and his/her genetic profile.

The last day of February has been designated “Rare Disease Day” to promote education and awareness related to rare diseases. More than 90 nations participate in this global observance, which was first established in 2008. In 2017, Rare Disease Day is February 28.

The National Organization for Rare Disorders (NORD) encourages medical professionals and students to host educational events such as lobby displays, Grand Rounds, educational community forums, and other activities focusing on rare diseases around that time.

NORD can provide patient/caregiver speakers, medical expert speakers, literature, and other resources to support Rare Disease Day events. In addition, NORD can help publicize and promote awareness of events. As the national sponsor of Rare Disease Day in the US, NORD hosts the national website at www.RareDiseaseDay.US where events can be posted state-by-state.

For information or support related to Rare Disease Day hospital or academic center events, write to [email protected]. Fact sheets and a toolkit specifically for those organizing Rare Disease Day events in hospital or academic settings are available for free download on the Rare Disease Day US website.

The last day of February has been designated “Rare Disease Day” to promote education and awareness related to rare diseases. More than 90 nations participate in this global observance, which was first established in 2008. In 2017, Rare Disease Day is February 28.

The National Organization for Rare Disorders (NORD) encourages medical professionals and students to host educational events such as lobby displays, Grand Rounds, educational community forums, and other activities focusing on rare diseases around that time.

NORD can provide patient/caregiver speakers, medical expert speakers, literature, and other resources to support Rare Disease Day events. In addition, NORD can help publicize and promote awareness of events. As the national sponsor of Rare Disease Day in the US, NORD hosts the national website at www.RareDiseaseDay.US where events can be posted state-by-state.

For information or support related to Rare Disease Day hospital or academic center events, write to [email protected]. Fact sheets and a toolkit specifically for those organizing Rare Disease Day events in hospital or academic settings are available for free download on the Rare Disease Day US website.

The last day of February has been designated “Rare Disease Day” to promote education and awareness related to rare diseases. More than 90 nations participate in this global observance, which was first established in 2008. In 2017, Rare Disease Day is February 28.

The National Organization for Rare Disorders (NORD) encourages medical professionals and students to host educational events such as lobby displays, Grand Rounds, educational community forums, and other activities focusing on rare diseases around that time.

NORD can provide patient/caregiver speakers, medical expert speakers, literature, and other resources to support Rare Disease Day events. In addition, NORD can help publicize and promote awareness of events. As the national sponsor of Rare Disease Day in the US, NORD hosts the national website at www.RareDiseaseDay.US where events can be posted state-by-state.

For information or support related to Rare Disease Day hospital or academic center events, write to [email protected]. Fact sheets and a toolkit specifically for those organizing Rare Disease Day events in hospital or academic settings are available for free download on the Rare Disease Day US website.

Running for Rare, NORD’s signature charity marathon team, participated as an official charity partner in the Tata Consultancy Services (TCS) New York City Marathon in November. The team participates in several marathons and half-marathons each year to raise funds for NORD’s program for undiagnosed patients. Specifically, the NORD program provides financial assistance for medical testing required of applicants to the Undiagnosed Diseases Network (UDN).

Each runner on the team is paired with a rare disease patient partner. Runners and their partners provide inspiration to each other and promote awareness of specific rare diseases. They also raise funds for the NORD Patient Assistance Program, to which undiagnosed patients are referred by staff at clinical centers affiliated with the UDN. 

The team has planned an ambitious season for 2017 beginning with the Los Angeles Marathon on March 19. Runners interested in joining the team can learn more on the NORD website.

Running for Rare, NORD’s signature charity marathon team, participated as an official charity partner in the Tata Consultancy Services (TCS) New York City Marathon in November. The team participates in several marathons and half-marathons each year to raise funds for NORD’s program for undiagnosed patients. Specifically, the NORD program provides financial assistance for medical testing required of applicants to the Undiagnosed Diseases Network (UDN).

Each runner on the team is paired with a rare disease patient partner. Runners and their partners provide inspiration to each other and promote awareness of specific rare diseases. They also raise funds for the NORD Patient Assistance Program, to which undiagnosed patients are referred by staff at clinical centers affiliated with the UDN. 

The team has planned an ambitious season for 2017 beginning with the Los Angeles Marathon on March 19. Runners interested in joining the team can learn more on the NORD website.

Running for Rare, NORD’s signature charity marathon team, participated as an official charity partner in the Tata Consultancy Services (TCS) New York City Marathon in November. The team participates in several marathons and half-marathons each year to raise funds for NORD’s program for undiagnosed patients. Specifically, the NORD program provides financial assistance for medical testing required of applicants to the Undiagnosed Diseases Network (UDN).

Each runner on the team is paired with a rare disease patient partner. Runners and their partners provide inspiration to each other and promote awareness of specific rare diseases. They also raise funds for the NORD Patient Assistance Program, to which undiagnosed patients are referred by staff at clinical centers affiliated with the UDN. 

The team has planned an ambitious season for 2017 beginning with the Los Angeles Marathon on March 19. Runners interested in joining the team can learn more on the NORD website.

The Morgan Leary Vaughan Fund has developed a new brochure to accompany the “Speaking of NEC: Necrotizing Enterocolitis” audio podcast series. The brochure provides a short introduction to each podcast in the series, and copies have been distributed to each of 102 Neonatal Intensive Care Units in the US. For information on the brochure and podcasts, visit the website.  

The Morgan Leary Vaughan Fund has developed a new brochure to accompany the “Speaking of NEC: Necrotizing Enterocolitis” audio podcast series. The brochure provides a short introduction to each podcast in the series, and copies have been distributed to each of 102 Neonatal Intensive Care Units in the US. For information on the brochure and podcasts, visit the website.  

The Morgan Leary Vaughan Fund has developed a new brochure to accompany the “Speaking of NEC: Necrotizing Enterocolitis” audio podcast series. The brochure provides a short introduction to each podcast in the series, and copies have been distributed to each of 102 Neonatal Intensive Care Units in the US. For information on the brochure and podcasts, visit the website.  

Adult patients with lipoprotein lipase deficiency (LPLD) in the US and Canada may be eligible for a study of alipogene tiparvovec. LPLD is a rare, autosomal recessive disorder of lipid metabolism. Additional information can be found on clinicaltrials.gov under study ID NCT02904772.

Adult patients with lipoprotein lipase deficiency (LPLD) in the US and Canada may be eligible for a study of alipogene tiparvovec. LPLD is a rare, autosomal recessive disorder of lipid metabolism. Additional information can be found on clinicaltrials.gov under study ID NCT02904772.

Adult patients with lipoprotein lipase deficiency (LPLD) in the US and Canada may be eligible for a study of alipogene tiparvovec. LPLD is a rare, autosomal recessive disorder of lipid metabolism. Additional information can be found on clinicaltrials.gov under study ID NCT02904772.

At the American College of Rheumatology’s Clinicopathologic Conference, a team of four physicians from the National Institutes of Health and George Washington University presented a case study of a rare inflammatory disease and the series of imaging and pathology tests they conducted to arrive at the diagnosis of Erdheim-Chester disease.  

At the American College of Rheumatology’s Clinicopathologic Conference, a team of four physicians from the National Institutes of Health and George Washington University presented a case study of a rare inflammatory disease and the series of imaging and pathology tests they conducted to arrive at the diagnosis of Erdheim-Chester disease.  

At the American College of Rheumatology’s Clinicopathologic Conference, a team of four physicians from the National Institutes of Health and George Washington University presented a case study of a rare inflammatory disease and the series of imaging and pathology tests they conducted to arrive at the diagnosis of Erdheim-Chester disease.  

The Association for Frontotemporal Degeneration (AFTD) recently hosted a webinar, now available online, with Bradley Boeve MD as the featured guest speaker. Entitled The Journey to an FTD Diagnosis, it explores the cases of several individuals of varying ages and backgrounds and their journey to an FTD diagnosis. The next webinar in this series will be offered in January 2017.

The Association for Frontotemporal Degeneration (AFTD) recently hosted a webinar, now available online, with Bradley Boeve MD as the featured guest speaker. Entitled The Journey to an FTD Diagnosis, it explores the cases of several individuals of varying ages and backgrounds and their journey to an FTD diagnosis. The next webinar in this series will be offered in January 2017.

The Association for Frontotemporal Degeneration (AFTD) recently hosted a webinar, now available online, with Bradley Boeve MD as the featured guest speaker. Entitled The Journey to an FTD Diagnosis, it explores the cases of several individuals of varying ages and backgrounds and their journey to an FTD diagnosis. The next webinar in this series will be offered in January 2017.

The VHL Alliance has published suggested surveillance guidelines approved by the VHLA Clinical Advisory Council regarding testing for individuals at risk for von Hippel-Lindau disease (VHL) who do not yet have symptoms or those who are known to have VHL but do not yet symptoms in a particular area. The unaffected organs should still be screened. Read the screening guidelines. View a list of organs that can be impacted by VHL. 

The VHL Alliance has published suggested surveillance guidelines approved by the VHLA Clinical Advisory Council regarding testing for individuals at risk for von Hippel-Lindau disease (VHL) who do not yet have symptoms or those who are known to have VHL but do not yet symptoms in a particular area. The unaffected organs should still be screened. Read the screening guidelines. View a list of organs that can be impacted by VHL. 

The VHL Alliance has published suggested surveillance guidelines approved by the VHLA Clinical Advisory Council regarding testing for individuals at risk for von Hippel-Lindau disease (VHL) who do not yet have symptoms or those who are known to have VHL but do not yet symptoms in a particular area. The unaffected organs should still be screened. Read the screening guidelines. View a list of organs that can be impacted by VHL. 

Medicare Access for Patients (MAPRx), a coalition of patient, family, caregiver, and medical professional organizations, has published its annual guide to help people understand the Medicare Part D open enrollment process.

Medicare Access for Patients (MAPRx), a coalition of patient, family, caregiver, and medical professional organizations, has published its annual guide to help people understand the Medicare Part D open enrollment process.

Medicare Access for Patients (MAPRx), a coalition of patient, family, caregiver, and medical professional organizations, has published its annual guide to help people understand the Medicare Part D open enrollment process.

The Undiagnosed Diseases Network (UDN) unites leading clinical and research experts across the US to solve the most challenging medical mysteries. Patients with longstanding unexplained symptoms receive in-depth evaluation, including genetic testing, at one of the UDN’s seven medical centers. The UDN website also includes Participant Pages on which UDN is looking for patients with similar symptoms to those who have chosen to share their information.

The Undiagnosed Diseases Network (UDN) unites leading clinical and research experts across the US to solve the most challenging medical mysteries. Patients with longstanding unexplained symptoms receive in-depth evaluation, including genetic testing, at one of the UDN’s seven medical centers. The UDN website also includes Participant Pages on which UDN is looking for patients with similar symptoms to those who have chosen to share their information.

The Undiagnosed Diseases Network (UDN) unites leading clinical and research experts across the US to solve the most challenging medical mysteries. Patients with longstanding unexplained symptoms receive in-depth evaluation, including genetic testing, at one of the UDN’s seven medical centers. The UDN website also includes Participant Pages on which UDN is looking for patients with similar symptoms to those who have chosen to share their information.