News from NORD

In an effort to clearly define the changing role of the specialty of medical genetics and the distinction between medical geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) has released a new “Scope of Practice of the Specialty of Medical Genetics” document.  Read more about this. 

In an effort to clearly define the changing role of the specialty of medical genetics and the distinction between medical geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) has released a new “Scope of Practice of the Specialty of Medical Genetics” document.  Read more about this. 

In an effort to clearly define the changing role of the specialty of medical genetics and the distinction between medical geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) has released a new “Scope of Practice of the Specialty of Medical Genetics” document.  Read more about this. 

Sean Hepburn Ferrer, son of Audrey Hepburn and actor Mel Ferrer, has filmed a new PSA calling for more awareness of rare diseases and directing viewers to NORD for information. Audrey Hepburn died of a rare form of cancer—pseudomyxoma peritonei. The PSA was released 200 days before Rare Disease Day 2016 (February 29, 2016) and marks the launch of NORD’s awareness campaign for Rare Disease Day, which is observed globally on the last day of February each year. View the PSA.

Sean Hepburn Ferrer, son of Audrey Hepburn and actor Mel Ferrer, has filmed a new PSA calling for more awareness of rare diseases and directing viewers to NORD for information. Audrey Hepburn died of a rare form of cancer—pseudomyxoma peritonei. The PSA was released 200 days before Rare Disease Day 2016 (February 29, 2016) and marks the launch of NORD’s awareness campaign for Rare Disease Day, which is observed globally on the last day of February each year. View the PSA.

Sean Hepburn Ferrer, son of Audrey Hepburn and actor Mel Ferrer, has filmed a new PSA calling for more awareness of rare diseases and directing viewers to NORD for information. Audrey Hepburn died of a rare form of cancer—pseudomyxoma peritonei. The PSA was released 200 days before Rare Disease Day 2016 (February 29, 2016) and marks the launch of NORD’s awareness campaign for Rare Disease Day, which is observed globally on the last day of February each year. View the PSA.

In an effort to clearly define the changing role of the specialty of medical genetics and the distinction between medical geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) has released a new “Scope of Practice of the Specialty of Medical Genetics” document.  Read more about this. 

In an effort to clearly define the changing role of the specialty of medical genetics and the distinction between medical geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) has released a new “Scope of Practice of the Specialty of Medical Genetics” document.  Read more about this. 

In an effort to clearly define the changing role of the specialty of medical genetics and the distinction between medical geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) has released a new “Scope of Practice of the Specialty of Medical Genetics” document.  Read more about this. 

Sean Hepburn Ferrer, son of Audrey Hepburn and actor Mel Ferrer, has filmed a new PSA calling for more awareness of rare diseases and directing viewers to NORD for information. Audrey Hepburn died of a rare form of cancer—pseudomyxoma peritonei. The PSA was released 200 days before Rare Disease Day 2016 (February 29, 2016) and marks the launch of NORD’s awareness campaign for Rare Disease Day, which is observed globally on the last day of February each year. View the PSA.

Sean Hepburn Ferrer, son of Audrey Hepburn and actor Mel Ferrer, has filmed a new PSA calling for more awareness of rare diseases and directing viewers to NORD for information. Audrey Hepburn died of a rare form of cancer—pseudomyxoma peritonei. The PSA was released 200 days before Rare Disease Day 2016 (February 29, 2016) and marks the launch of NORD’s awareness campaign for Rare Disease Day, which is observed globally on the last day of February each year. View the PSA.

Sean Hepburn Ferrer, son of Audrey Hepburn and actor Mel Ferrer, has filmed a new PSA calling for more awareness of rare diseases and directing viewers to NORD for information. Audrey Hepburn died of a rare form of cancer—pseudomyxoma peritonei. The PSA was released 200 days before Rare Disease Day 2016 (February 29, 2016) and marks the launch of NORD’s awareness campaign for Rare Disease Day, which is observed globally on the last day of February each year. View the PSA.

In comments submitted to the NIH regarding the NIH strategic plan, NORD talks about the importance of programs for patients with rare diseases and for undiagnosed patients. NIH has identified advancing research opportunities presented by rare diseases as one of its priorities in its strategic plan. The letter from NORD President and CEO Peter L. Saltonstall congratulates NIH on that position and outlines several components that NORD considers essential to advancing research to develop treatments for rare and neglected diseases. Read the NORD letter.

In comments submitted to the NIH regarding the NIH strategic plan, NORD talks about the importance of programs for patients with rare diseases and for undiagnosed patients. NIH has identified advancing research opportunities presented by rare diseases as one of its priorities in its strategic plan. The letter from NORD President and CEO Peter L. Saltonstall congratulates NIH on that position and outlines several components that NORD considers essential to advancing research to develop treatments for rare and neglected diseases. Read the NORD letter.

In comments submitted to the NIH regarding the NIH strategic plan, NORD talks about the importance of programs for patients with rare diseases and for undiagnosed patients. NIH has identified advancing research opportunities presented by rare diseases as one of its priorities in its strategic plan. The letter from NORD President and CEO Peter L. Saltonstall congratulates NIH on that position and outlines several components that NORD considers essential to advancing research to develop treatments for rare and neglected diseases. Read the NORD letter.

In comments submitted to the NIH regarding the NIH strategic plan, NORD talks about the importance of programs for patients with rare diseases and for undiagnosed patients. NIH has identified advancing research opportunities presented by rare diseases as one of its priorities in its strategic plan. The letter from NORD President and CEO Peter L. Saltonstall congratulates NIH on that position and outlines several components that NORD considers essential to advancing research to develop treatments for rare and neglected diseases. Read the NORD letter.

In comments submitted to the NIH regarding the NIH strategic plan, NORD talks about the importance of programs for patients with rare diseases and for undiagnosed patients. NIH has identified advancing research opportunities presented by rare diseases as one of its priorities in its strategic plan. The letter from NORD President and CEO Peter L. Saltonstall congratulates NIH on that position and outlines several components that NORD considers essential to advancing research to develop treatments for rare and neglected diseases. Read the NORD letter.

In comments submitted to the NIH regarding the NIH strategic plan, NORD talks about the importance of programs for patients with rare diseases and for undiagnosed patients. NIH has identified advancing research opportunities presented by rare diseases as one of its priorities in its strategic plan. The letter from NORD President and CEO Peter L. Saltonstall congratulates NIH on that position and outlines several components that NORD considers essential to advancing research to develop treatments for rare and neglected diseases. Read the NORD letter.

Christopher Austin, MD, Director of the National Center for Advancing Translational Sciences (NCATS) will deliver the keynote luncheon address on the first day of the National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit, to take place in Arlington, Virginia, on Oct. 21–22. Dr. Austin will speak on drug repurposing and identifying possible connections between existing therapies and rare diseases. Other keynote speakers will include Stephen Ostroff, MD, Acting Commissioner of the Food and Drug Administration (FDA), and Jono Lancaster of the UK, who will describe his experiences as a patient living with a rare disease—Treacher Collins syndrome.

The NORD Summit draws approximately 500 participants each year, including medical professionals, senior staff of the NIH and FDA, leaders of patient organizations, and pharmaceutical industry thought leaders.

An up-to-the-minute agenda and online registration are available through the NORD website.

Christopher Austin, MD, Director of the National Center for Advancing Translational Sciences (NCATS) will deliver the keynote luncheon address on the first day of the National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit, to take place in Arlington, Virginia, on Oct. 21–22. Dr. Austin will speak on drug repurposing and identifying possible connections between existing therapies and rare diseases. Other keynote speakers will include Stephen Ostroff, MD, Acting Commissioner of the Food and Drug Administration (FDA), and Jono Lancaster of the UK, who will describe his experiences as a patient living with a rare disease—Treacher Collins syndrome.

The NORD Summit draws approximately 500 participants each year, including medical professionals, senior staff of the NIH and FDA, leaders of patient organizations, and pharmaceutical industry thought leaders.

An up-to-the-minute agenda and online registration are available through the NORD website.

Christopher Austin, MD, Director of the National Center for Advancing Translational Sciences (NCATS) will deliver the keynote luncheon address on the first day of the National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit, to take place in Arlington, Virginia, on Oct. 21–22. Dr. Austin will speak on drug repurposing and identifying possible connections between existing therapies and rare diseases. Other keynote speakers will include Stephen Ostroff, MD, Acting Commissioner of the Food and Drug Administration (FDA), and Jono Lancaster of the UK, who will describe his experiences as a patient living with a rare disease—Treacher Collins syndrome.

The NORD Summit draws approximately 500 participants each year, including medical professionals, senior staff of the NIH and FDA, leaders of patient organizations, and pharmaceutical industry thought leaders.

An up-to-the-minute agenda and online registration are available through the NORD website.

Christopher Austin, MD, Director of the National Center for Advancing Translational Sciences (NCATS) will deliver the keynote luncheon address on the first day of the National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit, to take place in Arlington, Virginia, on Oct. 21–22. Dr. Austin will speak on drug repurposing and identifying possible connections between existing therapies and rare diseases. Other keynote speakers will include Stephen Ostroff, MD, Acting Commissioner of the Food and Drug Administration (FDA), and Jono Lancaster of the UK, who will describe his experiences as a patient living with a rare disease—Treacher Collins syndrome.

The NORD Summit draws approximately 500 participants each year, including medical professionals, senior staff of the NIH and FDA, leaders of patient organizations, and pharmaceutical industry thought leaders.

An up-to-the-minute agenda and online registration are available through the NORD website.

Christopher Austin, MD, Director of the National Center for Advancing Translational Sciences (NCATS) will deliver the keynote luncheon address on the first day of the National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit, to take place in Arlington, Virginia, on Oct. 21–22. Dr. Austin will speak on drug repurposing and identifying possible connections between existing therapies and rare diseases. Other keynote speakers will include Stephen Ostroff, MD, Acting Commissioner of the Food and Drug Administration (FDA), and Jono Lancaster of the UK, who will describe his experiences as a patient living with a rare disease—Treacher Collins syndrome.

The NORD Summit draws approximately 500 participants each year, including medical professionals, senior staff of the NIH and FDA, leaders of patient organizations, and pharmaceutical industry thought leaders.

An up-to-the-minute agenda and online registration are available through the NORD website.

Christopher Austin, MD, Director of the National Center for Advancing Translational Sciences (NCATS) will deliver the keynote luncheon address on the first day of the National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit, to take place in Arlington, Virginia, on Oct. 21–22. Dr. Austin will speak on drug repurposing and identifying possible connections between existing therapies and rare diseases. Other keynote speakers will include Stephen Ostroff, MD, Acting Commissioner of the Food and Drug Administration (FDA), and Jono Lancaster of the UK, who will describe his experiences as a patient living with a rare disease—Treacher Collins syndrome.

The NORD Summit draws approximately 500 participants each year, including medical professionals, senior staff of the NIH and FDA, leaders of patient organizations, and pharmaceutical industry thought leaders.

An up-to-the-minute agenda and online registration are available through the NORD website.

Precision medicine, early diagnosis, newborn screening, and optimizing clinical trial success will be among the topics at the annual NORD Rare Diseases and Orphan Products Breakthrough Summit to take place October 21–22 in Arlington, Virginia. Keynote speakers will include Stephen Ostroff, MD, Acting Commissioner, FDA, and Christopher P. Austin, MD, Director, NIH National Center for Advancing Translational Sciences.

Robert Saul, MD, Co-Director of the American Academy of Pediatrics (AAP) Genetics in Primary Care initiative, will discuss the challenges for community physicians in caring for patients with complex rare diseases. Sophia Walker, a medical student at the University of Connecticut, will share thoughts regarding rare diseases in the medical school curriculum.  

In line with the current emphasis on precision medicine, Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will present on the NCI-Match clinical trial launched recently. This trial seeks to determine whether targeted therapies for people whose tumors have specific gene mutations will be effective regardless of the cancer type.

Blogger, author, and geneticist Ricki Lewis, PhD, will share stories from patients she has interviewed to illustrate the potential impact of precision medicine on the rare disease community. Marshall Summar, MD, Division Chief, Genetics and Metabolism, Children’s National Health System, will moderate a session on Facilitating Early Diagnosis and Treatment.

Mike S. Watson, PhD, Executive Director of the American College of Medical Genetics and Genomics, will speak on “Newborn Screening—Advanced Capabilities and Ethical Considerations.”

The annual Breakthrough Summit draws approximately 500 professionals and patient advocates each year. It features general sessions with special tracks for researchers, clinicians, drug developers, and patient organization leaders. Additional information is available on the NORD website at http://rarediseases.org/summit-overview/ and early bird registration pricing is in effect until August 28th.

Precision medicine, early diagnosis, newborn screening, and optimizing clinical trial success will be among the topics at the annual NORD Rare Diseases and Orphan Products Breakthrough Summit to take place October 21–22 in Arlington, Virginia. Keynote speakers will include Stephen Ostroff, MD, Acting Commissioner, FDA, and Christopher P. Austin, MD, Director, NIH National Center for Advancing Translational Sciences.

Robert Saul, MD, Co-Director of the American Academy of Pediatrics (AAP) Genetics in Primary Care initiative, will discuss the challenges for community physicians in caring for patients with complex rare diseases. Sophia Walker, a medical student at the University of Connecticut, will share thoughts regarding rare diseases in the medical school curriculum.  

In line with the current emphasis on precision medicine, Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will present on the NCI-Match clinical trial launched recently. This trial seeks to determine whether targeted therapies for people whose tumors have specific gene mutations will be effective regardless of the cancer type.

Blogger, author, and geneticist Ricki Lewis, PhD, will share stories from patients she has interviewed to illustrate the potential impact of precision medicine on the rare disease community. Marshall Summar, MD, Division Chief, Genetics and Metabolism, Children’s National Health System, will moderate a session on Facilitating Early Diagnosis and Treatment.

Mike S. Watson, PhD, Executive Director of the American College of Medical Genetics and Genomics, will speak on “Newborn Screening—Advanced Capabilities and Ethical Considerations.”

The annual Breakthrough Summit draws approximately 500 professionals and patient advocates each year. It features general sessions with special tracks for researchers, clinicians, drug developers, and patient organization leaders. Additional information is available on the NORD website at http://rarediseases.org/summit-overview/ and early bird registration pricing is in effect until August 28th.

Precision medicine, early diagnosis, newborn screening, and optimizing clinical trial success will be among the topics at the annual NORD Rare Diseases and Orphan Products Breakthrough Summit to take place October 21–22 in Arlington, Virginia. Keynote speakers will include Stephen Ostroff, MD, Acting Commissioner, FDA, and Christopher P. Austin, MD, Director, NIH National Center for Advancing Translational Sciences.

Robert Saul, MD, Co-Director of the American Academy of Pediatrics (AAP) Genetics in Primary Care initiative, will discuss the challenges for community physicians in caring for patients with complex rare diseases. Sophia Walker, a medical student at the University of Connecticut, will share thoughts regarding rare diseases in the medical school curriculum.  

In line with the current emphasis on precision medicine, Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will present on the NCI-Match clinical trial launched recently. This trial seeks to determine whether targeted therapies for people whose tumors have specific gene mutations will be effective regardless of the cancer type.

Blogger, author, and geneticist Ricki Lewis, PhD, will share stories from patients she has interviewed to illustrate the potential impact of precision medicine on the rare disease community. Marshall Summar, MD, Division Chief, Genetics and Metabolism, Children’s National Health System, will moderate a session on Facilitating Early Diagnosis and Treatment.

Mike S. Watson, PhD, Executive Director of the American College of Medical Genetics and Genomics, will speak on “Newborn Screening—Advanced Capabilities and Ethical Considerations.”

The annual Breakthrough Summit draws approximately 500 professionals and patient advocates each year. It features general sessions with special tracks for researchers, clinicians, drug developers, and patient organization leaders. Additional information is available on the NORD website at http://rarediseases.org/summit-overview/ and early bird registration pricing is in effect until August 28th.

The National Institute of Nursing Research (NINR) has published a new brochure on the value of pediatric palliative care to reduce a child’s pain, help manage other distressing symptoms, and provide emotional support to the child and family throughout the course of a serious illness. For more information, see http://www.nih.gov/news/health/jul2015/ninr-13.htm

The National Institute of Nursing Research (NINR) has published a new brochure on the value of pediatric palliative care to reduce a child’s pain, help manage other distressing symptoms, and provide emotional support to the child and family throughout the course of a serious illness. For more information, see http://www.nih.gov/news/health/jul2015/ninr-13.htm

The National Institute of Nursing Research (NINR) has published a new brochure on the value of pediatric palliative care to reduce a child’s pain, help manage other distressing symptoms, and provide emotional support to the child and family throughout the course of a serious illness. For more information, see http://www.nih.gov/news/health/jul2015/ninr-13.htm