News from NORD

In a study of 110 patients with epileptic encephalopathy, genetic causes were identified in 28%. Inherited metabolic disorders were present in 7% and other genetic causes, including genetic syndromes, in 21%. Some 4.5% of patients had a treatable inherited metabolic disease. Diagnosis was obtained by epileptic encephalopathy genome sequencing panels for 45% of patients. The study was published online March 25 in Epilepsia.
http://www.ncbi.nlm.nih.gov/pubmed/25818041?dopt=Abstract

In a study of 110 patients with epileptic encephalopathy, genetic causes were identified in 28%. Inherited metabolic disorders were present in 7% and other genetic causes, including genetic syndromes, in 21%. Some 4.5% of patients had a treatable inherited metabolic disease. Diagnosis was obtained by epileptic encephalopathy genome sequencing panels for 45% of patients. The study was published online March 25 in Epilepsia.
http://www.ncbi.nlm.nih.gov/pubmed/25818041?dopt=Abstract

In a study of 110 patients with epileptic encephalopathy, genetic causes were identified in 28%. Inherited metabolic disorders were present in 7% and other genetic causes, including genetic syndromes, in 21%. Some 4.5% of patients had a treatable inherited metabolic disease. Diagnosis was obtained by epileptic encephalopathy genome sequencing panels for 45% of patients. The study was published online March 25 in Epilepsia.
http://www.ncbi.nlm.nih.gov/pubmed/25818041?dopt=Abstract

Shruti Agnihotri, MD, of the University of Alabama at Birmingham and Igor J. Koralnik, MD, of Harvard Medical School presented a poster at the recent American Academy of Neurology meeting in which they described the role that cyberconsults may play in managing rare neurologic diseases. They defined cyberconsults as distance consultation via telephone calls, emails, and videoconferencing.

Specifically, Drs. Agnihotri and Koralnik described their own experiences in working with the rare disease progressive multifocal leukoencephalopathy at Beth Israel Deaconess Medical Center in Boston. While the distance consults have obvious limitations, the two noted, they also provide significant opportunities to connect with—and help—patients and medical experts worldwide.

Shruti Agnihotri, MD, of the University of Alabama at Birmingham and Igor J. Koralnik, MD, of Harvard Medical School presented a poster at the recent American Academy of Neurology meeting in which they described the role that cyberconsults may play in managing rare neurologic diseases. They defined cyberconsults as distance consultation via telephone calls, emails, and videoconferencing.

Specifically, Drs. Agnihotri and Koralnik described their own experiences in working with the rare disease progressive multifocal leukoencephalopathy at Beth Israel Deaconess Medical Center in Boston. While the distance consults have obvious limitations, the two noted, they also provide significant opportunities to connect with—and help—patients and medical experts worldwide.

Shruti Agnihotri, MD, of the University of Alabama at Birmingham and Igor J. Koralnik, MD, of Harvard Medical School presented a poster at the recent American Academy of Neurology meeting in which they described the role that cyberconsults may play in managing rare neurologic diseases. They defined cyberconsults as distance consultation via telephone calls, emails, and videoconferencing.

Specifically, Drs. Agnihotri and Koralnik described their own experiences in working with the rare disease progressive multifocal leukoencephalopathy at Beth Israel Deaconess Medical Center in Boston. While the distance consults have obvious limitations, the two noted, they also provide significant opportunities to connect with—and help—patients and medical experts worldwide.

NORD has written letters to two key Congressional committees urging permanent authorization of a program designed to spur innovation in development of pediatric rare disease therapies. More than 100 rare disease patient organizations signed NORD’s letters, which were sent to the chairs and ranking members of the House Committee on Energy & Commerce and the Senate Committee on Health, Education, Labor, and Pensions.

The Rare Pediatric Disease Priority Review Voucher Program was established a few years ago and is set to expire in 2016. It provides vouchers to biopharmaceutical companies that develop treatments for pediatric rare diseases. The vouchers, which guarantee a six-month priority review by FDA of another product, may be used or sold to another company.

The program is widely perceived to be successful in encouraging research on pediatric rare diseases. NORD is leading the charge to have it permanently authorized.

NORD has written letters to two key Congressional committees urging permanent authorization of a program designed to spur innovation in development of pediatric rare disease therapies. More than 100 rare disease patient organizations signed NORD’s letters, which were sent to the chairs and ranking members of the House Committee on Energy & Commerce and the Senate Committee on Health, Education, Labor, and Pensions.

The Rare Pediatric Disease Priority Review Voucher Program was established a few years ago and is set to expire in 2016. It provides vouchers to biopharmaceutical companies that develop treatments for pediatric rare diseases. The vouchers, which guarantee a six-month priority review by FDA of another product, may be used or sold to another company.

The program is widely perceived to be successful in encouraging research on pediatric rare diseases. NORD is leading the charge to have it permanently authorized.

NORD has written letters to two key Congressional committees urging permanent authorization of a program designed to spur innovation in development of pediatric rare disease therapies. More than 100 rare disease patient organizations signed NORD’s letters, which were sent to the chairs and ranking members of the House Committee on Energy & Commerce and the Senate Committee on Health, Education, Labor, and Pensions.

The Rare Pediatric Disease Priority Review Voucher Program was established a few years ago and is set to expire in 2016. It provides vouchers to biopharmaceutical companies that develop treatments for pediatric rare diseases. The vouchers, which guarantee a six-month priority review by FDA of another product, may be used or sold to another company.

The program is widely perceived to be successful in encouraging research on pediatric rare diseases. NORD is leading the charge to have it permanently authorized.

NORD will present a Lifetime Achievement Award to National Institutes of Health (NIH) Director Francis Collins, MD, PhD, at its annual Portraits of Courage Celebration on Tuesday, May 19, in Washington DC. Dr. Collins led the successful Human Genome Project and also served for several years as Director of the National Human Genome Research Institute before being named NIH Director in 2009.

Before joining NIH, he served on the faculty of the University of Michigan. Dr. Collins played an instrumental role in the identification of genes for several rare diseases, including cystic fibrosis, Huntington’s disease, neurofibromatosis, and Hutchison-Gilford progeria syndrome.

Others to be honored at the NORD celebration include Senator Lamar Alexander (TN) and Senator Robert Casey (PA), for their support of rare disease research. 

This annual NORD event is open to all and is attended by a broad cross section of stakeholders in the rare disease community, including clinicians and researchers, staff of NIH and FDA, patient organization leaders, and those involved in developing treatments for rare diseases.

Ten rare disease patients and caregivers will be recognized as representatives of the courageous spirit of individuals and families living with complex, life-altering rare diseases. For additional information or to register, visit the NORD website (www.rarediseases.org).

NORD will present a Lifetime Achievement Award to National Institutes of Health (NIH) Director Francis Collins, MD, PhD, at its annual Portraits of Courage Celebration on Tuesday, May 19, in Washington DC. Dr. Collins led the successful Human Genome Project and also served for several years as Director of the National Human Genome Research Institute before being named NIH Director in 2009.

Before joining NIH, he served on the faculty of the University of Michigan. Dr. Collins played an instrumental role in the identification of genes for several rare diseases, including cystic fibrosis, Huntington’s disease, neurofibromatosis, and Hutchison-Gilford progeria syndrome.

Others to be honored at the NORD celebration include Senator Lamar Alexander (TN) and Senator Robert Casey (PA), for their support of rare disease research. 

This annual NORD event is open to all and is attended by a broad cross section of stakeholders in the rare disease community, including clinicians and researchers, staff of NIH and FDA, patient organization leaders, and those involved in developing treatments for rare diseases.

Ten rare disease patients and caregivers will be recognized as representatives of the courageous spirit of individuals and families living with complex, life-altering rare diseases. For additional information or to register, visit the NORD website (www.rarediseases.org).

NORD will present a Lifetime Achievement Award to National Institutes of Health (NIH) Director Francis Collins, MD, PhD, at its annual Portraits of Courage Celebration on Tuesday, May 19, in Washington DC. Dr. Collins led the successful Human Genome Project and also served for several years as Director of the National Human Genome Research Institute before being named NIH Director in 2009.

Before joining NIH, he served on the faculty of the University of Michigan. Dr. Collins played an instrumental role in the identification of genes for several rare diseases, including cystic fibrosis, Huntington’s disease, neurofibromatosis, and Hutchison-Gilford progeria syndrome.

Others to be honored at the NORD celebration include Senator Lamar Alexander (TN) and Senator Robert Casey (PA), for their support of rare disease research. 

This annual NORD event is open to all and is attended by a broad cross section of stakeholders in the rare disease community, including clinicians and researchers, staff of NIH and FDA, patient organization leaders, and those involved in developing treatments for rare diseases.

Ten rare disease patients and caregivers will be recognized as representatives of the courageous spirit of individuals and families living with complex, life-altering rare diseases. For additional information or to register, visit the NORD website (www.rarediseases.org).

Patients with chordoma, caregivers, and health care professionals have a new resource to aid in their fight against chordoma, with the publication of the first detailed, multidisciplinary treatment guidelines in the journal The Lancet Oncology. These recommendations are the result of a year-long effort of more than 40 international chordoma experts led by the Istituto Nazionale dei Tumori in Milan (the National Cancer Institute of Italy) in partnership with the Chordoma Foundation. They reflect expert consensus on best practices for the comprehensive management of chordoma in all locations of the body in multiple settings and scenarios.

Patients with chordoma, caregivers, and health care professionals have a new resource to aid in their fight against chordoma, with the publication of the first detailed, multidisciplinary treatment guidelines in the journal The Lancet Oncology. These recommendations are the result of a year-long effort of more than 40 international chordoma experts led by the Istituto Nazionale dei Tumori in Milan (the National Cancer Institute of Italy) in partnership with the Chordoma Foundation. They reflect expert consensus on best practices for the comprehensive management of chordoma in all locations of the body in multiple settings and scenarios.

Patients with chordoma, caregivers, and health care professionals have a new resource to aid in their fight against chordoma, with the publication of the first detailed, multidisciplinary treatment guidelines in the journal The Lancet Oncology. These recommendations are the result of a year-long effort of more than 40 international chordoma experts led by the Istituto Nazionale dei Tumori in Milan (the National Cancer Institute of Italy) in partnership with the Chordoma Foundation. They reflect expert consensus on best practices for the comprehensive management of chordoma in all locations of the body in multiple settings and scenarios.

The U.S. Secretary of Health and Human Services has approved a recommendation to add Pompe disease to the list of conditions recommended for newborn screening. This recommendation was made by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children.

The U.S. Secretary of Health and Human Services has approved a recommendation to add Pompe disease to the list of conditions recommended for newborn screening. This recommendation was made by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children.

The U.S. Secretary of Health and Human Services has approved a recommendation to add Pompe disease to the list of conditions recommended for newborn screening. This recommendation was made by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children.

The Tuberous Sclerosis Alliance is offering new resources about tuberous sclerosis complex (TSC)-Associated Neuropsychiatric Disorders (TAND) on its website at http://www.tsalliance.org/TAND. These new resources include a video presentation by Petrus J. de Vries, MBChB, MRCPsych, PhD, and links to two recent medical journal articles about TAND. The TAND Checklist, described in the video, was developed to help clinical teams, individuals with TSC, and their families screen for TAND at every clinic visit and prioritize what to do next. TAND is a new terminology to describe the interrelated functional and clinical manifestations of brain dysfunction in TSC, including aggressive behaviors, autism spectrum disorders, intellectual disabilities, psychiatric disorders, neuropsychological deficits, and school or occupational difficulties. These manifestations are often of great concern to individuals with TSC and their families. 

The Tuberous Sclerosis Alliance is offering new resources about tuberous sclerosis complex (TSC)-Associated Neuropsychiatric Disorders (TAND) on its website at http://www.tsalliance.org/TAND. These new resources include a video presentation by Petrus J. de Vries, MBChB, MRCPsych, PhD, and links to two recent medical journal articles about TAND. The TAND Checklist, described in the video, was developed to help clinical teams, individuals with TSC, and their families screen for TAND at every clinic visit and prioritize what to do next. TAND is a new terminology to describe the interrelated functional and clinical manifestations of brain dysfunction in TSC, including aggressive behaviors, autism spectrum disorders, intellectual disabilities, psychiatric disorders, neuropsychological deficits, and school or occupational difficulties. These manifestations are often of great concern to individuals with TSC and their families. 

The Tuberous Sclerosis Alliance is offering new resources about tuberous sclerosis complex (TSC)-Associated Neuropsychiatric Disorders (TAND) on its website at http://www.tsalliance.org/TAND. These new resources include a video presentation by Petrus J. de Vries, MBChB, MRCPsych, PhD, and links to two recent medical journal articles about TAND. The TAND Checklist, described in the video, was developed to help clinical teams, individuals with TSC, and their families screen for TAND at every clinic visit and prioritize what to do next. TAND is a new terminology to describe the interrelated functional and clinical manifestations of brain dysfunction in TSC, including aggressive behaviors, autism spectrum disorders, intellectual disabilities, psychiatric disorders, neuropsychological deficits, and school or occupational difficulties. These manifestations are often of great concern to individuals with TSC and their families. 

The American Society of Human Genetics (ASHG) has partnered with ReachMD to develop “Genetically Speaking,” a series of interviews on timely topics for health professionals who are not genetics specialists. The series provides information on the latest advances in genetic risk assessment, testing, and management. It addresses new research findings, technological advances, and applications of genetics in the evaluation, diagnosis, and treatment of health conditions. https://reachmd.com/programs/genetically-speaking

The American Society of Human Genetics (ASHG) has partnered with ReachMD to develop “Genetically Speaking,” a series of interviews on timely topics for health professionals who are not genetics specialists. The series provides information on the latest advances in genetic risk assessment, testing, and management. It addresses new research findings, technological advances, and applications of genetics in the evaluation, diagnosis, and treatment of health conditions. https://reachmd.com/programs/genetically-speaking

The American Society of Human Genetics (ASHG) has partnered with ReachMD to develop “Genetically Speaking,” a series of interviews on timely topics for health professionals who are not genetics specialists. The series provides information on the latest advances in genetic risk assessment, testing, and management. It addresses new research findings, technological advances, and applications of genetics in the evaluation, diagnosis, and treatment of health conditions. https://reachmd.com/programs/genetically-speaking

A report is now available summarizing an Institute of Medicine workshop that examined challenges of providing genetics education, reviewed innovative approaches, and identified steps for improvement. To access the report, visit http://www.iom.edu/Reports/2015/Improving-Genetics-Education-Graduate-Continuing-Health-Professional-Education.aspx

A report is now available summarizing an Institute of Medicine workshop that examined challenges of providing genetics education, reviewed innovative approaches, and identified steps for improvement. To access the report, visit http://www.iom.edu/Reports/2015/Improving-Genetics-Education-Graduate-Continuing-Health-Professional-Education.aspx

A report is now available summarizing an Institute of Medicine workshop that examined challenges of providing genetics education, reviewed innovative approaches, and identified steps for improvement. To access the report, visit http://www.iom.edu/Reports/2015/Improving-Genetics-Education-Graduate-Continuing-Health-Professional-Education.aspx

Patients who participate in clinical trials may now receive notification of published results with a new tool developed by researchers at NIH and Columbia University. This service sends an email to study participants when an article with results of the trial has been published. The service is called “ArticlesAboutMe.” Patients or caregivers may sign up online to receive the email notification. (http://articlesaboutme.org/)

Patients who participate in clinical trials may now receive notification of published results with a new tool developed by researchers at NIH and Columbia University. This service sends an email to study participants when an article with results of the trial has been published. The service is called “ArticlesAboutMe.” Patients or caregivers may sign up online to receive the email notification. (http://articlesaboutme.org/)

Patients who participate in clinical trials may now receive notification of published results with a new tool developed by researchers at NIH and Columbia University. This service sends an email to study participants when an article with results of the trial has been published. The service is called “ArticlesAboutMe.” Patients or caregivers may sign up online to receive the email notification. (http://articlesaboutme.org/)