News from NORD

In its ongoing series of regional educational meetings for patients and caregivers, NORD will be hosting the following events: May 1-2, Orlando, short bowel syndrome; May 14-16, Denver, short bowel syndrome and hypoparathyroidism; June 26-27, Teaneck, NJ, paroxysmal nocturnal hemoglobinuria (PNH); and July 24-25, Mobile, AL, PNH. For information or to register, visit the NORD website (www.rarediseases.org).

In its ongoing series of regional educational meetings for patients and caregivers, NORD will be hosting the following events: May 1-2, Orlando, short bowel syndrome; May 14-16, Denver, short bowel syndrome and hypoparathyroidism; June 26-27, Teaneck, NJ, paroxysmal nocturnal hemoglobinuria (PNH); and July 24-25, Mobile, AL, PNH. For information or to register, visit the NORD website (www.rarediseases.org).

In its ongoing series of regional educational meetings for patients and caregivers, NORD will be hosting the following events: May 1-2, Orlando, short bowel syndrome; May 14-16, Denver, short bowel syndrome and hypoparathyroidism; June 26-27, Teaneck, NJ, paroxysmal nocturnal hemoglobinuria (PNH); and July 24-25, Mobile, AL, PNH. For information or to register, visit the NORD website (www.rarediseases.org).

NORD has published a new Physician Guide to Lipoprotein Lipase Deficiency (LPLD), a rare disorder of triglyceride metabolism. The guide is available free on the NORD Physician Guides website (http://nordphysicianguides.org/lipoprotein-lipase-deficiency-lpld/). John JP Kastelein, MD, PhD, of the University of Amsterdam, served as reviewer for the text. With LPLD, high triglyceride levels are present from infancy or childhood. Symptoms include episodes of severe abdominal pain, hepatosplenomegaly, and eruptive xanthomas. 

NORD has published a new Physician Guide to Lipoprotein Lipase Deficiency (LPLD), a rare disorder of triglyceride metabolism. The guide is available free on the NORD Physician Guides website (http://nordphysicianguides.org/lipoprotein-lipase-deficiency-lpld/). John JP Kastelein, MD, PhD, of the University of Amsterdam, served as reviewer for the text. With LPLD, high triglyceride levels are present from infancy or childhood. Symptoms include episodes of severe abdominal pain, hepatosplenomegaly, and eruptive xanthomas. 

NORD has published a new Physician Guide to Lipoprotein Lipase Deficiency (LPLD), a rare disorder of triglyceride metabolism. The guide is available free on the NORD Physician Guides website (http://nordphysicianguides.org/lipoprotein-lipase-deficiency-lpld/). John JP Kastelein, MD, PhD, of the University of Amsterdam, served as reviewer for the text. With LPLD, high triglyceride levels are present from infancy or childhood. Symptoms include episodes of severe abdominal pain, hepatosplenomegaly, and eruptive xanthomas. 

NORD hosted a “Meet the Patients” event at the recent annual convention of the American Medical Student Association in Arlington, Virginia. Patients with rare diseases and their parents shared their stories one-on-one with the medical students. “To be able to meet patients and hear their experiences first-hand was much different from reading about rare diseases in a textbook,” one student said.

NORD hosted a “Meet the Patients” event at the recent annual convention of the American Medical Student Association in Arlington, Virginia. Patients with rare diseases and their parents shared their stories one-on-one with the medical students. “To be able to meet patients and hear their experiences first-hand was much different from reading about rare diseases in a textbook,” one student said.

NORD hosted a “Meet the Patients” event at the recent annual convention of the American Medical Student Association in Arlington, Virginia. Patients with rare diseases and their parents shared their stories one-on-one with the medical students. “To be able to meet patients and hear their experiences first-hand was much different from reading about rare diseases in a textbook,” one student said.

Registration is now open for the 2015 NORD Portraits of Courage Celebration, which will take place on Tuesday, May 19, at the National Building Museum in Washington DC. This annual gala draws together representatives of the medical professions, government, industry, and patient advocacy to celebrate the year’s highlights in medical research, public policy, and orphan product development. Visit NORD’s website (www.rarediseases.org) for information or to register.

Registration is now open for the 2015 NORD Portraits of Courage Celebration, which will take place on Tuesday, May 19, at the National Building Museum in Washington DC. This annual gala draws together representatives of the medical professions, government, industry, and patient advocacy to celebrate the year’s highlights in medical research, public policy, and orphan product development. Visit NORD’s website (www.rarediseases.org) for information or to register.

Registration is now open for the 2015 NORD Portraits of Courage Celebration, which will take place on Tuesday, May 19, at the National Building Museum in Washington DC. This annual gala draws together representatives of the medical professions, government, industry, and patient advocacy to celebrate the year’s highlights in medical research, public policy, and orphan product development. Visit NORD’s website (www.rarediseases.org) for information or to register.

Frontline Medical Communications has established a partnership with the National Organization for Rare Disorders (NORD) to provide physicians and other medical professionals with timely information on rare diseases, diagnostic resources and treatments.

Established in 1983, NORD is the primary nonprofit organization serving the rare disease community with education, advocacy, research grants and patient assistance programs. NORD works closely with rare disease experts to provide information for medical professionals, patients and families, and the public.

Over the next several months, Frontline and NORD will be creating many new digital and print resources to facilitate timely diagnosis and optimal care for patients.

The partnership will also include a "News From NORD" section in Frontline publications with news briefs and timely topics to help our readers stay current in the important and rapidly evolving world of rare diseases.

Frontline Medical Communications has established a partnership with the National Organization for Rare Disorders (NORD) to provide physicians and other medical professionals with timely information on rare diseases, diagnostic resources and treatments.

Established in 1983, NORD is the primary nonprofit organization serving the rare disease community with education, advocacy, research grants and patient assistance programs. NORD works closely with rare disease experts to provide information for medical professionals, patients and families, and the public.

Over the next several months, Frontline and NORD will be creating many new digital and print resources to facilitate timely diagnosis and optimal care for patients.

The partnership will also include a "News From NORD" section in Frontline publications with news briefs and timely topics to help our readers stay current in the important and rapidly evolving world of rare diseases.

Frontline Medical Communications has established a partnership with the National Organization for Rare Disorders (NORD) to provide physicians and other medical professionals with timely information on rare diseases, diagnostic resources and treatments.

Established in 1983, NORD is the primary nonprofit organization serving the rare disease community with education, advocacy, research grants and patient assistance programs. NORD works closely with rare disease experts to provide information for medical professionals, patients and families, and the public.

Over the next several months, Frontline and NORD will be creating many new digital and print resources to facilitate timely diagnosis and optimal care for patients.

The partnership will also include a "News From NORD" section in Frontline publications with news briefs and timely topics to help our readers stay current in the important and rapidly evolving world of rare diseases.

Several major academic and medical centers are planning special events for Rare Disease Day 2015. This awareness day is always observed on the last day of February and is hosted in the U.S. by NORD (www.RareDiseaseDay.US) and internationally by EURORDIS (www.RareDiseaseDay.org).

Rare Disease Day was first observed in 2008 and has grown every year since then. More than 80 nations participated last year. The purpose of the day is to focus attention on rare diseases as a public health issue and to promote awareness of the challenges of living with a rare disease.

The Department of Genetics at the University of Alabama at Birmingham will be hosting its second annual Rare Disease Day event this year with a symposium for medical professionals and a simultaneous one for the community.

"We see this as an outstanding opportunity to educate both our staff and the community of patients and parents regarding new developments in the diagnosis and management of rare disorders," said Bruce R. Korf, MD, PhD, professor and chair, Department of Genetics. "This year, we will focus on new approaches to therapy based on better understanding of disease mechanisms. Like last year, we will include both speakers from UAB and nationally recognized invited speakers."

Information about the 2014 UAB Rare Disease Day event is posted online here: http://www.uab.edu/news/faculty/item/4220-uab-hosts-world-rare-disease-day-symposium

Other academic centers planning special programs for Rare Disease Day 2015 include the Boler-Parseghian Center for Rare and Neglected Diseases at the University of Notre Dame and the Sanford-Burnham Medical Research Institute.

In addition to the events at hospitals and universities, the National Institutes of Health (NIH) will host a Rare Disease Day event for researchers and patient organizations. Also, NORD and its members are organizing "State House Events" in more than 30 states to enhance awareness among legislators of issues such as lack of access to treatments for patients.

Several major academic and medical centers are planning special events for Rare Disease Day 2015. This awareness day is always observed on the last day of February and is hosted in the U.S. by NORD (www.RareDiseaseDay.US) and internationally by EURORDIS (www.RareDiseaseDay.org).

Rare Disease Day was first observed in 2008 and has grown every year since then. More than 80 nations participated last year. The purpose of the day is to focus attention on rare diseases as a public health issue and to promote awareness of the challenges of living with a rare disease.

The Department of Genetics at the University of Alabama at Birmingham will be hosting its second annual Rare Disease Day event this year with a symposium for medical professionals and a simultaneous one for the community.

"We see this as an outstanding opportunity to educate both our staff and the community of patients and parents regarding new developments in the diagnosis and management of rare disorders," said Bruce R. Korf, MD, PhD, professor and chair, Department of Genetics. "This year, we will focus on new approaches to therapy based on better understanding of disease mechanisms. Like last year, we will include both speakers from UAB and nationally recognized invited speakers."

Information about the 2014 UAB Rare Disease Day event is posted online here: http://www.uab.edu/news/faculty/item/4220-uab-hosts-world-rare-disease-day-symposium

Other academic centers planning special programs for Rare Disease Day 2015 include the Boler-Parseghian Center for Rare and Neglected Diseases at the University of Notre Dame and the Sanford-Burnham Medical Research Institute.

In addition to the events at hospitals and universities, the National Institutes of Health (NIH) will host a Rare Disease Day event for researchers and patient organizations. Also, NORD and its members are organizing "State House Events" in more than 30 states to enhance awareness among legislators of issues such as lack of access to treatments for patients.

Several major academic and medical centers are planning special events for Rare Disease Day 2015. This awareness day is always observed on the last day of February and is hosted in the U.S. by NORD (www.RareDiseaseDay.US) and internationally by EURORDIS (www.RareDiseaseDay.org).

Rare Disease Day was first observed in 2008 and has grown every year since then. More than 80 nations participated last year. The purpose of the day is to focus attention on rare diseases as a public health issue and to promote awareness of the challenges of living with a rare disease.

The Department of Genetics at the University of Alabama at Birmingham will be hosting its second annual Rare Disease Day event this year with a symposium for medical professionals and a simultaneous one for the community.

"We see this as an outstanding opportunity to educate both our staff and the community of patients and parents regarding new developments in the diagnosis and management of rare disorders," said Bruce R. Korf, MD, PhD, professor and chair, Department of Genetics. "This year, we will focus on new approaches to therapy based on better understanding of disease mechanisms. Like last year, we will include both speakers from UAB and nationally recognized invited speakers."

Information about the 2014 UAB Rare Disease Day event is posted online here: http://www.uab.edu/news/faculty/item/4220-uab-hosts-world-rare-disease-day-symposium

Other academic centers planning special programs for Rare Disease Day 2015 include the Boler-Parseghian Center for Rare and Neglected Diseases at the University of Notre Dame and the Sanford-Burnham Medical Research Institute.

In addition to the events at hospitals and universities, the National Institutes of Health (NIH) will host a Rare Disease Day event for researchers and patient organizations. Also, NORD and its members are organizing "State House Events" in more than 30 states to enhance awareness among legislators of issues such as lack of access to treatments for patients.

Many children with rare diseases go for years without a diagnosis. In a recent blog post, NIH Director Francis S. Collins, MD, PhD, wrote about a new report documenting the value of whole genome or exome sequencing for children with undiagnosed neurodevelopmental conditions. In a study of 119 children, 45% received a molecular diagnosis. Changes in medical care were indicated for about half of these children.

Read Dr. Collins' blog: http://directorsblog.nih.gov/2014/12/16/genome-sequencing-exploring-the-diagnostic-promise/

Many children with rare diseases go for years without a diagnosis. In a recent blog post, NIH Director Francis S. Collins, MD, PhD, wrote about a new report documenting the value of whole genome or exome sequencing for children with undiagnosed neurodevelopmental conditions. In a study of 119 children, 45% received a molecular diagnosis. Changes in medical care were indicated for about half of these children.

Read Dr. Collins' blog: http://directorsblog.nih.gov/2014/12/16/genome-sequencing-exploring-the-diagnostic-promise/

Many children with rare diseases go for years without a diagnosis. In a recent blog post, NIH Director Francis S. Collins, MD, PhD, wrote about a new report documenting the value of whole genome or exome sequencing for children with undiagnosed neurodevelopmental conditions. In a study of 119 children, 45% received a molecular diagnosis. Changes in medical care were indicated for about half of these children.

Read Dr. Collins' blog: http://directorsblog.nih.gov/2014/12/16/genome-sequencing-exploring-the-diagnostic-promise/