News from NORD

The Alport Syndrome Foundation has announced the availability of funding for research to find novel treatments to prevent kidney failure and hearing loss in all patients with Alport syndrome. Two $100,000 projects are anticipated. Proposals are due March 20, 2017.

The Alport Syndrome Foundation has announced the availability of funding for research to find novel treatments to prevent kidney failure and hearing loss in all patients with Alport syndrome. Two $100,000 projects are anticipated. Proposals are due March 20, 2017.

The Alport Syndrome Foundation has announced the availability of funding for research to find novel treatments to prevent kidney failure and hearing loss in all patients with Alport syndrome. Two $100,000 projects are anticipated. Proposals are due March 20, 2017.

As part of its ongoing educational outreach, NORD has published a report on spontaneous intracranial hypotension (SIH) in its Rare Disease Database. The database covers approximately 1,300 rare diseases and is available to all on the NORD website. Reports may be read online or downloaded free of charge.

The report on SIH was developed in collaboration with Connie Deline, MD, co-founder of the Spinal CSF Leak Foundation, and Wouter I. Schievink, MD, Professor of Neurosurgery, Department of Neurosurgery, Cedars-Sinai Medical Center. The hope is that the new report will reduce diagnosis delay and also be helpful to newly diagnosed patients.

The new report may be accessed here. SIH is secondary to a cerebrospinal fluid leak at the level of the spine, and the resulting loss of CSF volume to support the brain and spinal cord. To promote awareness of the condition, February 26 to March 4 has been designated the first spinal CSF leak awareness week.

As part of its ongoing educational outreach, NORD has published a report on spontaneous intracranial hypotension (SIH) in its Rare Disease Database. The database covers approximately 1,300 rare diseases and is available to all on the NORD website. Reports may be read online or downloaded free of charge.

The report on SIH was developed in collaboration with Connie Deline, MD, co-founder of the Spinal CSF Leak Foundation, and Wouter I. Schievink, MD, Professor of Neurosurgery, Department of Neurosurgery, Cedars-Sinai Medical Center. The hope is that the new report will reduce diagnosis delay and also be helpful to newly diagnosed patients.

The new report may be accessed here. SIH is secondary to a cerebrospinal fluid leak at the level of the spine, and the resulting loss of CSF volume to support the brain and spinal cord. To promote awareness of the condition, February 26 to March 4 has been designated the first spinal CSF leak awareness week.

As part of its ongoing educational outreach, NORD has published a report on spontaneous intracranial hypotension (SIH) in its Rare Disease Database. The database covers approximately 1,300 rare diseases and is available to all on the NORD website. Reports may be read online or downloaded free of charge.

The report on SIH was developed in collaboration with Connie Deline, MD, co-founder of the Spinal CSF Leak Foundation, and Wouter I. Schievink, MD, Professor of Neurosurgery, Department of Neurosurgery, Cedars-Sinai Medical Center. The hope is that the new report will reduce diagnosis delay and also be helpful to newly diagnosed patients.

The new report may be accessed here. SIH is secondary to a cerebrospinal fluid leak at the level of the spine, and the resulting loss of CSF volume to support the brain and spinal cord. To promote awareness of the condition, February 26 to March 4 has been designated the first spinal CSF leak awareness week.

The Canadian Organization for Rare Disorders (CORD) has developed a Consensus Framework to encourage ethical collaboration among patient organizations, health care professionals, and the pharmaceutical industry.

The Canadian Organization for Rare Disorders (CORD) has developed a Consensus Framework to encourage ethical collaboration among patient organizations, health care professionals, and the pharmaceutical industry.

The Canadian Organization for Rare Disorders (CORD) has developed a Consensus Framework to encourage ethical collaboration among patient organizations, health care professionals, and the pharmaceutical industry.

Running for Rare, NORD’s charity marathon team, will be running the Los Angeles Marathon on March 19 to raise funds for NORD’s patient assistance program for undiagnosed patients and to raise awareness of rare diseases. Each runner is paired with a community partner (a patient or caregiver) who provides inspiration to the runner.

Applications are open for runners and community partners. The LA Marathon is the 5th largest marathon in the US and the 11th largest worldwide. More than 25,000 people participate. Details.

Running for Rare, NORD’s charity marathon team, will be running the Los Angeles Marathon on March 19 to raise funds for NORD’s patient assistance program for undiagnosed patients and to raise awareness of rare diseases. Each runner is paired with a community partner (a patient or caregiver) who provides inspiration to the runner.

Applications are open for runners and community partners. The LA Marathon is the 5th largest marathon in the US and the 11th largest worldwide. More than 25,000 people participate. Details.

Running for Rare, NORD’s charity marathon team, will be running the Los Angeles Marathon on March 19 to raise funds for NORD’s patient assistance program for undiagnosed patients and to raise awareness of rare diseases. Each runner is paired with a community partner (a patient or caregiver) who provides inspiration to the runner.

Applications are open for runners and community partners. The LA Marathon is the 5th largest marathon in the US and the 11th largest worldwide. More than 25,000 people participate. Details.

On February 28th, medical professionals, patients, and advocates will observe Rare Disease Day in more than 90 nations worldwide. This awareness day was established in 2008 to promote education regarding rare diseases. As the national sponsor of Rare Disease Day in the US, NORD hosts the official website at www.rarediseaseday.us.

The theme for 2017 is Research and, in particular, the importance of research on rare diseases. This theme will be observed in all participating nations.

NORD provides tools and resources for those hosting events at academic centers and hospitals. Download this presentation for other suggestions regarding how to get involved. NORD will be co-hosting a tweetchat with ABC News and Dr. Richard Besser on Rare Disease Day. Details on this and other activities will be available on the Rare Disease Day US website.

On February 28th, medical professionals, patients, and advocates will observe Rare Disease Day in more than 90 nations worldwide. This awareness day was established in 2008 to promote education regarding rare diseases. As the national sponsor of Rare Disease Day in the US, NORD hosts the official website at www.rarediseaseday.us.

The theme for 2017 is Research and, in particular, the importance of research on rare diseases. This theme will be observed in all participating nations.

NORD provides tools and resources for those hosting events at academic centers and hospitals. Download this presentation for other suggestions regarding how to get involved. NORD will be co-hosting a tweetchat with ABC News and Dr. Richard Besser on Rare Disease Day. Details on this and other activities will be available on the Rare Disease Day US website.

On February 28th, medical professionals, patients, and advocates will observe Rare Disease Day in more than 90 nations worldwide. This awareness day was established in 2008 to promote education regarding rare diseases. As the national sponsor of Rare Disease Day in the US, NORD hosts the official website at www.rarediseaseday.us.

The theme for 2017 is Research and, in particular, the importance of research on rare diseases. This theme will be observed in all participating nations.

NORD provides tools and resources for those hosting events at academic centers and hospitals. Download this presentation for other suggestions regarding how to get involved. NORD will be co-hosting a tweetchat with ABC News and Dr. Richard Besser on Rare Disease Day. Details on this and other activities will be available on the Rare Disease Day US website.

As the new administration and Congress consider replacing the Affordable Care Act with a new system, NORD is seeking input from patients and health care providers for its advocacy on behalf of rare disease patients. Patients or providers who have experiences or concerns to share regarding pre-existing conditions, annual or lifetime insurance caps, high-risk pools, or other topics may share their experiences with NORD.

As the new administration and Congress consider replacing the Affordable Care Act with a new system, NORD is seeking input from patients and health care providers for its advocacy on behalf of rare disease patients. Patients or providers who have experiences or concerns to share regarding pre-existing conditions, annual or lifetime insurance caps, high-risk pools, or other topics may share their experiences with NORD.

As the new administration and Congress consider replacing the Affordable Care Act with a new system, NORD is seeking input from patients and health care providers for its advocacy on behalf of rare disease patients. Patients or providers who have experiences or concerns to share regarding pre-existing conditions, annual or lifetime insurance caps, high-risk pools, or other topics may share their experiences with NORD.

Diagnosis of Creutzfeldt-Jakob disease is difficult because the condition resembles many other neurodegenerative diseases. A new test is now available that can detect minute quantities of the CJD-specific abnormal prion protein from all subtypes of sporadic CJD in cerebral spinal fluid or nasal mucosa. More here and here.

Diagnosis of Creutzfeldt-Jakob disease is difficult because the condition resembles many other neurodegenerative diseases. A new test is now available that can detect minute quantities of the CJD-specific abnormal prion protein from all subtypes of sporadic CJD in cerebral spinal fluid or nasal mucosa. More here and here.

Diagnosis of Creutzfeldt-Jakob disease is difficult because the condition resembles many other neurodegenerative diseases. A new test is now available that can detect minute quantities of the CJD-specific abnormal prion protein from all subtypes of sporadic CJD in cerebral spinal fluid or nasal mucosa. More here and here.

The A-T Children’s Project is now distributing a new 16-page Caring for People with Ataxia-Telangiectasia handbook. Topics include neurology, managing lung health, immunology, vaccine schedules, cancer, and school recommendations.

The A-T Children’s Project is now distributing a new 16-page Caring for People with Ataxia-Telangiectasia handbook. Topics include neurology, managing lung health, immunology, vaccine schedules, cancer, and school recommendations.

The A-T Children’s Project is now distributing a new 16-page Caring for People with Ataxia-Telangiectasia handbook. Topics include neurology, managing lung health, immunology, vaccine schedules, cancer, and school recommendations.

Authors are invited to submit abstracts for consideration for inclusion in the program for either oral or poster presentations at the 12th Hereditary Hemorrhagic Telangiectasia (HHT) International Scientific Conference, which will take place June 8 through 11 in Dubrovnik, Croatia. Abstracts should include only original data and case reports must be submitted for poster presentations. February 28 is the deadline for submissions. Questions may be directed to Nicole Schaefer at [email protected] or 410 357-9932. Additional information about the conference is available here.

Authors are invited to submit abstracts for consideration for inclusion in the program for either oral or poster presentations at the 12th Hereditary Hemorrhagic Telangiectasia (HHT) International Scientific Conference, which will take place June 8 through 11 in Dubrovnik, Croatia. Abstracts should include only original data and case reports must be submitted for poster presentations. February 28 is the deadline for submissions. Questions may be directed to Nicole Schaefer at [email protected] or 410 357-9932. Additional information about the conference is available here.

Authors are invited to submit abstracts for consideration for inclusion in the program for either oral or poster presentations at the 12th Hereditary Hemorrhagic Telangiectasia (HHT) International Scientific Conference, which will take place June 8 through 11 in Dubrovnik, Croatia. Abstracts should include only original data and case reports must be submitted for poster presentations. February 28 is the deadline for submissions. Questions may be directed to Nicole Schaefer at [email protected] or 410 357-9932. Additional information about the conference is available here.

The Huntington’s Disease Society of America (HDSA) has published a report providing in-depth information on research on Huntington’s disease conducted during 2016. Read the 2016 report as well as ones from previous years here.

The Huntington’s Disease Society of America (HDSA) has published a report providing in-depth information on research on Huntington’s disease conducted during 2016. Read the 2016 report as well as ones from previous years here.

The Huntington’s Disease Society of America (HDSA) has published a report providing in-depth information on research on Huntington’s disease conducted during 2016. Read the 2016 report as well as ones from previous years here.