News from NORD

Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

The diseases for which research funding is available are: adult polyglucosan body disease; ataxia-telangiectasia; Castleman disease; CFTR nonsense mutations; congenital hyperinsulinism; congenital muscular dystrophy; CRB1 degenerative retinal disease; nonsense mutations in cystic fibrosis; dyskeratosis congenital & telomere biology disorders; fibrous dysplasia/McCune Albright syndrome; generalized lymphatic anomaly and Gorham-Stout disease; Glut 1 deficiency; lymphangioleiomyomatosis; mucolipidosis type IV; mucopolysaccharidoses; Niemann Pick type C; Pitt Hopkins syndrome; RASopathies; Tay-Sachs, Sandhoff, GM1, or Canavan disease; and Snyder-Robinson syndrome.

Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

The diseases for which research funding is available are: adult polyglucosan body disease; ataxia-telangiectasia; Castleman disease; CFTR nonsense mutations; congenital hyperinsulinism; congenital muscular dystrophy; CRB1 degenerative retinal disease; nonsense mutations in cystic fibrosis; dyskeratosis congenital & telomere biology disorders; fibrous dysplasia/McCune Albright syndrome; generalized lymphatic anomaly and Gorham-Stout disease; Glut 1 deficiency; lymphangioleiomyomatosis; mucolipidosis type IV; mucopolysaccharidoses; Niemann Pick type C; Pitt Hopkins syndrome; RASopathies; Tay-Sachs, Sandhoff, GM1, or Canavan disease; and Snyder-Robinson syndrome.

Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

The diseases for which research funding is available are: adult polyglucosan body disease; ataxia-telangiectasia; Castleman disease; CFTR nonsense mutations; congenital hyperinsulinism; congenital muscular dystrophy; CRB1 degenerative retinal disease; nonsense mutations in cystic fibrosis; dyskeratosis congenital & telomere biology disorders; fibrous dysplasia/McCune Albright syndrome; generalized lymphatic anomaly and Gorham-Stout disease; Glut 1 deficiency; lymphangioleiomyomatosis; mucolipidosis type IV; mucopolysaccharidoses; Niemann Pick type C; Pitt Hopkins syndrome; RASopathies; Tay-Sachs, Sandhoff, GM1, or Canavan disease; and Snyder-Robinson syndrome.

NORD President and CEO Peter L. Saltonstall expressed disappointment “on behalf of the one in 10 Americans with rare diseases, most of whom are still waiting for a cure” at the US Senate’s decision to postpone a vote on the Senate Innovations for Healthier Americans Initiative until at least September.

“This vital package includes billions of dollars to spur medical innovation that would help the rare disease community,” Mr. Saltonstall said in a statement released by NORD, including needed funding for medical research at NIH and to accelerate product review at FDA, as well as for special initiatives such as the Cancer Moonshot headed by Vice President Joe Biden.

“Most pressing,” Mr. Saltonstall added, “is the reauthorization of the Rare Pediatric Disease Priority Review Voucher program, currently set to expire at the end of September.” NORD has been a strong and consistent advocate for that program, which encourages the development of therapies for rare pediatric diseases.

NORD President and CEO Peter L. Saltonstall expressed disappointment “on behalf of the one in 10 Americans with rare diseases, most of whom are still waiting for a cure” at the US Senate’s decision to postpone a vote on the Senate Innovations for Healthier Americans Initiative until at least September.

“This vital package includes billions of dollars to spur medical innovation that would help the rare disease community,” Mr. Saltonstall said in a statement released by NORD, including needed funding for medical research at NIH and to accelerate product review at FDA, as well as for special initiatives such as the Cancer Moonshot headed by Vice President Joe Biden.

“Most pressing,” Mr. Saltonstall added, “is the reauthorization of the Rare Pediatric Disease Priority Review Voucher program, currently set to expire at the end of September.” NORD has been a strong and consistent advocate for that program, which encourages the development of therapies for rare pediatric diseases.

NORD President and CEO Peter L. Saltonstall expressed disappointment “on behalf of the one in 10 Americans with rare diseases, most of whom are still waiting for a cure” at the US Senate’s decision to postpone a vote on the Senate Innovations for Healthier Americans Initiative until at least September.

“This vital package includes billions of dollars to spur medical innovation that would help the rare disease community,” Mr. Saltonstall said in a statement released by NORD, including needed funding for medical research at NIH and to accelerate product review at FDA, as well as for special initiatives such as the Cancer Moonshot headed by Vice President Joe Biden.

“Most pressing,” Mr. Saltonstall added, “is the reauthorization of the Rare Pediatric Disease Priority Review Voucher program, currently set to expire at the end of September.” NORD has been a strong and consistent advocate for that program, which encourages the development of therapies for rare pediatric diseases.

FDA Commissioner Robert Califf, MD, will deliver the keynote address on the opening morning of the annual NORD Rare Diseases and Orphan Products Summit, which is scheduled for October 17–18 in Arlington, Virginia. Dr. Califf will be among more than 20 FDA speakers and several from NIH at the event, which draws together patient advocates as well as government, industry, and academic professionals working with rare diseases.

David Flannery, MD, Medical Director of the American College of Medical Genetics, will talk about “Telemedicine and Rare Diseases,” and will present a live telemedicine demo. In a session on genetic innovation, moderator Nora Yang, PhD, MBA, from the NIH, and panelists from GeneDx, Intellia Therapeutics, Spark Therapeutics, and the FDA will discuss gene-editing, gene-sequencing and gene therapy.

Other topics to be addressed include the crucial role of data in advancing diagnosis and clinical drug development, focus on pediatric diseases, and the challenge of access and reimbursement.

The Summit will include a poster session. Poster abstracts may be submitted by students as well as professionals. August 19th is the deadline for abstracts. Read more about poster submissions.

FDA Commissioner Robert Califf, MD, will deliver the keynote address on the opening morning of the annual NORD Rare Diseases and Orphan Products Summit, which is scheduled for October 17–18 in Arlington, Virginia. Dr. Califf will be among more than 20 FDA speakers and several from NIH at the event, which draws together patient advocates as well as government, industry, and academic professionals working with rare diseases.

David Flannery, MD, Medical Director of the American College of Medical Genetics, will talk about “Telemedicine and Rare Diseases,” and will present a live telemedicine demo. In a session on genetic innovation, moderator Nora Yang, PhD, MBA, from the NIH, and panelists from GeneDx, Intellia Therapeutics, Spark Therapeutics, and the FDA will discuss gene-editing, gene-sequencing and gene therapy.

Other topics to be addressed include the crucial role of data in advancing diagnosis and clinical drug development, focus on pediatric diseases, and the challenge of access and reimbursement.

The Summit will include a poster session. Poster abstracts may be submitted by students as well as professionals. August 19th is the deadline for abstracts. Read more about poster submissions.

FDA Commissioner Robert Califf, MD, will deliver the keynote address on the opening morning of the annual NORD Rare Diseases and Orphan Products Summit, which is scheduled for October 17–18 in Arlington, Virginia. Dr. Califf will be among more than 20 FDA speakers and several from NIH at the event, which draws together patient advocates as well as government, industry, and academic professionals working with rare diseases.

David Flannery, MD, Medical Director of the American College of Medical Genetics, will talk about “Telemedicine and Rare Diseases,” and will present a live telemedicine demo. In a session on genetic innovation, moderator Nora Yang, PhD, MBA, from the NIH, and panelists from GeneDx, Intellia Therapeutics, Spark Therapeutics, and the FDA will discuss gene-editing, gene-sequencing and gene therapy.

Other topics to be addressed include the crucial role of data in advancing diagnosis and clinical drug development, focus on pediatric diseases, and the challenge of access and reimbursement.

The Summit will include a poster session. Poster abstracts may be submitted by students as well as professionals. August 19th is the deadline for abstracts. Read more about poster submissions.