News from NORD

At the NORD Rare Diseases and Orphan Products Summit in Arlington, Virginia, on October 21-22, personalized or precision medicine—and its potential impact on the millions of Americans who have rare diseases—will be a recurring theme. Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will discuss precision medicine initiatives at NCI. 

Joshus Denny, MD, MS, Associate Professor of Medicine and Bioinformatics at Vanderbilt University and a member of the NIH Precision Medicine Initiative Working Group, will discuss the report recently released by that group and plans for moving forward with the PMI initiative.

Other topics of particular timeliness at the NORD Summit this year include promoting earlier diagnosis for patients, rare cancer treatment challenges, and advances and ethical considerations related to newborn screening. The NORD Summit is open to all, and online registration is available through the NORD website.

At the NORD Rare Diseases and Orphan Products Summit in Arlington, Virginia, on October 21-22, personalized or precision medicine—and its potential impact on the millions of Americans who have rare diseases—will be a recurring theme. Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will discuss precision medicine initiatives at NCI. 

Joshus Denny, MD, MS, Associate Professor of Medicine and Bioinformatics at Vanderbilt University and a member of the NIH Precision Medicine Initiative Working Group, will discuss the report recently released by that group and plans for moving forward with the PMI initiative.

Other topics of particular timeliness at the NORD Summit this year include promoting earlier diagnosis for patients, rare cancer treatment challenges, and advances and ethical considerations related to newborn screening. The NORD Summit is open to all, and online registration is available through the NORD website.

At the NORD Rare Diseases and Orphan Products Summit in Arlington, Virginia, on October 21-22, personalized or precision medicine—and its potential impact on the millions of Americans who have rare diseases—will be a recurring theme. Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will discuss precision medicine initiatives at NCI. 

Joshus Denny, MD, MS, Associate Professor of Medicine and Bioinformatics at Vanderbilt University and a member of the NIH Precision Medicine Initiative Working Group, will discuss the report recently released by that group and plans for moving forward with the PMI initiative.

Other topics of particular timeliness at the NORD Summit this year include promoting earlier diagnosis for patients, rare cancer treatment challenges, and advances and ethical considerations related to newborn screening. The NORD Summit is open to all, and online registration is available through the NORD website.

The cureCADASIL Family Registry has been established to support research and better understanding of CADASIL, an inherited disease causing progressive dementia due to multiple strokes and TIAs that is often misdiagnosed as MS or other neurological disorders. Information about the new registry, which is hosted by the CADASIL Association, is available on the Association’s website.

The cureCADASIL Family Registry has been established to support research and better understanding of CADASIL, an inherited disease causing progressive dementia due to multiple strokes and TIAs that is often misdiagnosed as MS or other neurological disorders. Information about the new registry, which is hosted by the CADASIL Association, is available on the Association’s website.

The cureCADASIL Family Registry has been established to support research and better understanding of CADASIL, an inherited disease causing progressive dementia due to multiple strokes and TIAs that is often misdiagnosed as MS or other neurological disorders. Information about the new registry, which is hosted by the CADASIL Association, is available on the Association’s website.

New-onset refractory status epilepticus (NORSE) is defined as refractory status epilepticus without an obvious cause after initial investigations. It carries a high rate of complications and mortality, and affected individuals are most often treated for weeks in an intensive care unit because they require prolonged anesthesia with coma-inducing drugs to control their seizures. Nicholas Gaspard, MD, PhD, and colleagues have published a review of patients treated from 2008 to 2013 at 13 academic medical centers.

New-onset refractory status epilepticus (NORSE) is defined as refractory status epilepticus without an obvious cause after initial investigations. It carries a high rate of complications and mortality, and affected individuals are most often treated for weeks in an intensive care unit because they require prolonged anesthesia with coma-inducing drugs to control their seizures. Nicholas Gaspard, MD, PhD, and colleagues have published a review of patients treated from 2008 to 2013 at 13 academic medical centers.

New-onset refractory status epilepticus (NORSE) is defined as refractory status epilepticus without an obvious cause after initial investigations. It carries a high rate of complications and mortality, and affected individuals are most often treated for weeks in an intensive care unit because they require prolonged anesthesia with coma-inducing drugs to control their seizures. Nicholas Gaspard, MD, PhD, and colleagues have published a review of patients treated from 2008 to 2013 at 13 academic medical centers.

The Undiagnosed Diseases Network (UDN) Gateway is an online patient application portal for all clinical sites in the UDN, including the original Undiagnosed Diseases Program at the NIH Clinical Center in Bethesda. The core mission of the UDN is to diagnose patients who suffer from undiagnosed conditions despite extensive clinical investigation. More information.

The Undiagnosed Diseases Network (UDN) Gateway is an online patient application portal for all clinical sites in the UDN, including the original Undiagnosed Diseases Program at the NIH Clinical Center in Bethesda. The core mission of the UDN is to diagnose patients who suffer from undiagnosed conditions despite extensive clinical investigation. More information.

The Undiagnosed Diseases Network (UDN) Gateway is an online patient application portal for all clinical sites in the UDN, including the original Undiagnosed Diseases Program at the NIH Clinical Center in Bethesda. The core mission of the UDN is to diagnose patients who suffer from undiagnosed conditions despite extensive clinical investigation. More information.

APBD is a genetic disorder that is frequently misdiagnosed as ALS, MS, and other neurological conditions. Early symptoms usually include bladder dysfunction and gait problems. These symptoms begin in middle age and eventually progress to complete loss of bladder control, inability to walk, and, in some cases, cognitive decline. A study reported in the July 2015 issue of Neurology showed an average of 6.8 years from presentation to diagnosis. All 30 patients in the study were initially misdiagnosed. More information.

APBD is a genetic disorder that is frequently misdiagnosed as ALS, MS, and other neurological conditions. Early symptoms usually include bladder dysfunction and gait problems. These symptoms begin in middle age and eventually progress to complete loss of bladder control, inability to walk, and, in some cases, cognitive decline. A study reported in the July 2015 issue of Neurology showed an average of 6.8 years from presentation to diagnosis. All 30 patients in the study were initially misdiagnosed. More information.

APBD is a genetic disorder that is frequently misdiagnosed as ALS, MS, and other neurological conditions. Early symptoms usually include bladder dysfunction and gait problems. These symptoms begin in middle age and eventually progress to complete loss of bladder control, inability to walk, and, in some cases, cognitive decline. A study reported in the July 2015 issue of Neurology showed an average of 6.8 years from presentation to diagnosis. All 30 patients in the study were initially misdiagnosed. More information.

The International Panel for NMO Diagnosis has provided updated diagnostic criteria for this incurable but treatable autoimmune disorder. Sometimes called Devic disease, NMO is characterized by optic neuritis and transverse myelitis. Previous diagnostic criteria developed in 2006 and require both optic nerve and spinal cord involvement. The new diagnostic criteria reflect clinical and neuroimaging evidence revealing a wider disease spectrum.

The International Panel for NMO Diagnosis has provided updated diagnostic criteria for this incurable but treatable autoimmune disorder. Sometimes called Devic disease, NMO is characterized by optic neuritis and transverse myelitis. Previous diagnostic criteria developed in 2006 and require both optic nerve and spinal cord involvement. The new diagnostic criteria reflect clinical and neuroimaging evidence revealing a wider disease spectrum.

The International Panel for NMO Diagnosis has provided updated diagnostic criteria for this incurable but treatable autoimmune disorder. Sometimes called Devic disease, NMO is characterized by optic neuritis and transverse myelitis. Previous diagnostic criteria developed in 2006 and require both optic nerve and spinal cord involvement. The new diagnostic criteria reflect clinical and neuroimaging evidence revealing a wider disease spectrum.

The Food and Drug Administration has released a draft guidance document for navigating the unique challenges of developing treatments for rare diseases. It emphasizes the importance of understanding the natural history of a disease, creating study designs with clinically meaningful end points, establishing product safety and effectiveness, and ensuring product quality.

The Food and Drug Administration has released a draft guidance document for navigating the unique challenges of developing treatments for rare diseases. It emphasizes the importance of understanding the natural history of a disease, creating study designs with clinically meaningful end points, establishing product safety and effectiveness, and ensuring product quality.

The Food and Drug Administration has released a draft guidance document for navigating the unique challenges of developing treatments for rare diseases. It emphasizes the importance of understanding the natural history of a disease, creating study designs with clinically meaningful end points, establishing product safety and effectiveness, and ensuring product quality.

NORD supports this bipartisan bill, introduced in the US Senate, to advance the development of targeted drugs for patients with serious or life-threatening rare genetic diseases. The bill is intended to maintain FDA’s strong safety and effectiveness standards, while clarifying the agency’s authority to consider research supporting previously approved targeted treatments. More information.

NORD supports this bipartisan bill, introduced in the US Senate, to advance the development of targeted drugs for patients with serious or life-threatening rare genetic diseases. The bill is intended to maintain FDA’s strong safety and effectiveness standards, while clarifying the agency’s authority to consider research supporting previously approved targeted treatments. More information.

NORD supports this bipartisan bill, introduced in the US Senate, to advance the development of targeted drugs for patients with serious or life-threatening rare genetic diseases. The bill is intended to maintain FDA’s strong safety and effectiveness standards, while clarifying the agency’s authority to consider research supporting previously approved targeted treatments. More information.

At the NORD Rare Diseases and Orphan Products Summit in Arlington, Virginia, on October 21-22, personalized or precision medicine—and its potential impact on the millions of Americans who have rare diseases—will be a recurring theme. Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will discuss precision medicine initiatives at NCI. 

Joshus Denny, MD, MS, Associate Professor of Medicine and Bioinformatics at Vanderbilt University and a member of the NIH Precision Medicine Initiative Working Group, will discuss the report recently released by that group and plans for moving forward with the PMI initiative.

Other topics of particular timeliness at the NORD Summit this year include promoting earlier diagnosis for patients, rare cancer treatment challenges, and advances and ethical considerations related to newborn screening. The NORD Summit is open to all, and online registration is available through the NORD website.

At the NORD Rare Diseases and Orphan Products Summit in Arlington, Virginia, on October 21-22, personalized or precision medicine—and its potential impact on the millions of Americans who have rare diseases—will be a recurring theme. Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will discuss precision medicine initiatives at NCI. 

Joshus Denny, MD, MS, Associate Professor of Medicine and Bioinformatics at Vanderbilt University and a member of the NIH Precision Medicine Initiative Working Group, will discuss the report recently released by that group and plans for moving forward with the PMI initiative.

Other topics of particular timeliness at the NORD Summit this year include promoting earlier diagnosis for patients, rare cancer treatment challenges, and advances and ethical considerations related to newborn screening. The NORD Summit is open to all, and online registration is available through the NORD website.

At the NORD Rare Diseases and Orphan Products Summit in Arlington, Virginia, on October 21-22, personalized or precision medicine—and its potential impact on the millions of Americans who have rare diseases—will be a recurring theme. Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will discuss precision medicine initiatives at NCI. 

Joshus Denny, MD, MS, Associate Professor of Medicine and Bioinformatics at Vanderbilt University and a member of the NIH Precision Medicine Initiative Working Group, will discuss the report recently released by that group and plans for moving forward with the PMI initiative.

Other topics of particular timeliness at the NORD Summit this year include promoting earlier diagnosis for patients, rare cancer treatment challenges, and advances and ethical considerations related to newborn screening. The NORD Summit is open to all, and online registration is available through the NORD website.

The Louisiana State University Health Sciences Center, in cooperation with the Vestibular Disorders Association, is conducting a survey to assess physician knowledge of, and experience with, diagnosing vestibular disorders. The survey consists of 22 questions and is estimated to take 10 to 15 minutes to complete. More information is available here.

The Louisiana State University Health Sciences Center, in cooperation with the Vestibular Disorders Association, is conducting a survey to assess physician knowledge of, and experience with, diagnosing vestibular disorders. The survey consists of 22 questions and is estimated to take 10 to 15 minutes to complete. More information is available here.

The Louisiana State University Health Sciences Center, in cooperation with the Vestibular Disorders Association, is conducting a survey to assess physician knowledge of, and experience with, diagnosing vestibular disorders. The survey consists of 22 questions and is estimated to take 10 to 15 minutes to complete. More information is available here.