News from NORD

The board of the National Niemann-Pick Disease Foundation (NNPDF) is searching for an executive director. Founded 25 years ago, the NNPDF supports patients and families affected by Niemann-Pick disease, a rare disease affecting fewer than 1,000 patients worldwide. More info.

The board of the National Niemann-Pick Disease Foundation (NNPDF) is searching for an executive director. Founded 25 years ago, the NNPDF supports patients and families affected by Niemann-Pick disease, a rare disease affecting fewer than 1,000 patients worldwide. More info.

The board of the National Niemann-Pick Disease Foundation (NNPDF) is searching for an executive director. Founded 25 years ago, the NNPDF supports patients and families affected by Niemann-Pick disease, a rare disease affecting fewer than 1,000 patients worldwide. More info.

HCU Network America and HCU Network Australia have announced a joint 2018 Call for Expressions of Interest for Research Grants to advance homocystinuria research toward diagnosis and treatment. Expressions of interest should be received no later than Jan. 15, 2018. More info.

HCU Network America and HCU Network Australia have announced a joint 2018 Call for Expressions of Interest for Research Grants to advance homocystinuria research toward diagnosis and treatment. Expressions of interest should be received no later than Jan. 15, 2018. More info.

HCU Network America and HCU Network Australia have announced a joint 2018 Call for Expressions of Interest for Research Grants to advance homocystinuria research toward diagnosis and treatment. Expressions of interest should be received no later than Jan. 15, 2018. More info.

The Cornelia de Lange Syndrome Foundation is currently accepting abstracts for its 8th Biennial Scientific & Educational Symposium. In addition to invited speakers, several platform talks are chosen from submitted abstracts. The deadline to submit an abstract is Feb. 15, 2018. More info.

The Cornelia de Lange Syndrome Foundation is currently accepting abstracts for its 8th Biennial Scientific & Educational Symposium. In addition to invited speakers, several platform talks are chosen from submitted abstracts. The deadline to submit an abstract is Feb. 15, 2018. More info.

The Cornelia de Lange Syndrome Foundation is currently accepting abstracts for its 8th Biennial Scientific & Educational Symposium. In addition to invited speakers, several platform talks are chosen from submitted abstracts. The deadline to submit an abstract is Feb. 15, 2018. More info.

The Aplastic Anemia and MDS Inernational Foundation (AAMDSIF) will be hosting seven “Living with Aplastic Anemia, MDS, PNH” patient and family conferences in cities around the country. Each free event offers incredible learning opportunities form leading medical experts, the ability to connect directly with other patients and caregivers, and hope for the future. More info.

The Aplastic Anemia and MDS Inernational Foundation (AAMDSIF) will be hosting seven “Living with Aplastic Anemia, MDS, PNH” patient and family conferences in cities around the country. Each free event offers incredible learning opportunities form leading medical experts, the ability to connect directly with other patients and caregivers, and hope for the future. More info.

The Aplastic Anemia and MDS Inernational Foundation (AAMDSIF) will be hosting seven “Living with Aplastic Anemia, MDS, PNH” patient and family conferences in cities around the country. Each free event offers incredible learning opportunities form leading medical experts, the ability to connect directly with other patients and caregivers, and hope for the future. More info.

A collaboration involving a patient organization (NGLY1.org), government (NIH National Center for Advancing Translational Sciences) and industry (Retrophin) is underway to screen hundreds of thousands of small molecules for their therapeutic potential in NGLY1 deficiency.

A collaboration involving a patient organization (NGLY1.org), government (NIH National Center for Advancing Translational Sciences) and industry (Retrophin) is underway to screen hundreds of thousands of small molecules for their therapeutic potential in NGLY1 deficiency.

A collaboration involving a patient organization (NGLY1.org), government (NIH National Center for Advancing Translational Sciences) and industry (Retrophin) is underway to screen hundreds of thousands of small molecules for their therapeutic potential in NGLY1 deficiency.

Registration is now open for the 15th International Symposium on MPS and Related Diseases, to take place in San Diego from August 2-4, 2018. The symposium will feature opportunities for scientific enrichment as well as family fun.

Abstracts for the symposium are being accepted until January 8. For more information, visit the website or email pdickson@labiomed.org.

Prior to the symposium, on August 1 at the same location, a one-day workshop will cover the clinical features of MPS and related diseases, including demonstrations of findings on volunteers affected with the conditions as well as basic disease biology, current work in diagnostic and therapeutic development, and biotechnology opportunities.

Registration is now open for the 15th International Symposium on MPS and Related Diseases, to take place in San Diego from August 2-4, 2018. The symposium will feature opportunities for scientific enrichment as well as family fun.

Abstracts for the symposium are being accepted until January 8. For more information, visit the website or email pdickson@labiomed.org.

Prior to the symposium, on August 1 at the same location, a one-day workshop will cover the clinical features of MPS and related diseases, including demonstrations of findings on volunteers affected with the conditions as well as basic disease biology, current work in diagnostic and therapeutic development, and biotechnology opportunities.

Registration is now open for the 15th International Symposium on MPS and Related Diseases, to take place in San Diego from August 2-4, 2018. The symposium will feature opportunities for scientific enrichment as well as family fun.

Abstracts for the symposium are being accepted until January 8. For more information, visit the website or email pdickson@labiomed.org.

Prior to the symposium, on August 1 at the same location, a one-day workshop will cover the clinical features of MPS and related diseases, including demonstrations of findings on volunteers affected with the conditions as well as basic disease biology, current work in diagnostic and therapeutic development, and biotechnology opportunities.

HCU Network America and HCU Network Australia have announced a joint 2018 Call for Expressions of Interest for Research Grants. January 15, 2018, is the deadline to respond to express interest.

HCU Network America and HCU Network Australia have announced a joint 2018 Call for Expressions of Interest for Research Grants. January 15, 2018, is the deadline to respond to express interest.

HCU Network America and HCU Network Australia have announced a joint 2018 Call for Expressions of Interest for Research Grants. January 15, 2018, is the deadline to respond to express interest.

Adrenal Insufficiency United will host its first-ever conference in Kansas City from March 23-25, 2018. Registration is now open. Speakers will include several leading medical experts on topics related to adrenal insufficiency.

Adrenal Insufficiency United will host its first-ever conference in Kansas City from March 23-25, 2018. Registration is now open. Speakers will include several leading medical experts on topics related to adrenal insufficiency.

Adrenal Insufficiency United will host its first-ever conference in Kansas City from March 23-25, 2018. Registration is now open. Speakers will include several leading medical experts on topics related to adrenal insufficiency.

The Power of Rare: A Blueprint for a Medical Revolution by Victoria Jackson and Michael Yeaman, PhD, provides a model for breaking down silos of medical research to bring together innovative thinkers to advance understanding of rare diseases. Brian Weinshenker, MD, Professor of Neurology at Mayo Clinic, wrote in his review: “In the last decade, neuromyelitis optica has evolved from being unknown to being a Rosetta stone in the understanding of autoimmune disease. In The Power of Rare, Victoria Jackson tells how she catalyzed this transformation by forging a community of medical and scientific allies to change thinking and solve problems.”

The Power of Rare: A Blueprint for a Medical Revolution by Victoria Jackson and Michael Yeaman, PhD, provides a model for breaking down silos of medical research to bring together innovative thinkers to advance understanding of rare diseases. Brian Weinshenker, MD, Professor of Neurology at Mayo Clinic, wrote in his review: “In the last decade, neuromyelitis optica has evolved from being unknown to being a Rosetta stone in the understanding of autoimmune disease. In The Power of Rare, Victoria Jackson tells how she catalyzed this transformation by forging a community of medical and scientific allies to change thinking and solve problems.”

The Power of Rare: A Blueprint for a Medical Revolution by Victoria Jackson and Michael Yeaman, PhD, provides a model for breaking down silos of medical research to bring together innovative thinkers to advance understanding of rare diseases. Brian Weinshenker, MD, Professor of Neurology at Mayo Clinic, wrote in his review: “In the last decade, neuromyelitis optica has evolved from being unknown to being a Rosetta stone in the understanding of autoimmune disease. In The Power of Rare, Victoria Jackson tells how she catalyzed this transformation by forging a community of medical and scientific allies to change thinking and solve problems.”

A new podcast series, NMO and the Power of Rare, is now available from the Guthy-Jackson Charitable Foundation. NMO or neuromyelitis optica affects the optic nerves, spinal cord, and brainstem. It can cause blindness and/or paralysis. It is sometimes misdiagnosed as MS.

Episode 1 of the series is titled “The NMO Revolution: The Top 5 NMO Breakthroughs in the Past 5 Years.” Nancy Sicotte, MD, Director of the MS Program at Cedars-Sinai Medical Center, is interviewed for this episode.

A new podcast series, NMO and the Power of Rare, is now available from the Guthy-Jackson Charitable Foundation. NMO or neuromyelitis optica affects the optic nerves, spinal cord, and brainstem. It can cause blindness and/or paralysis. It is sometimes misdiagnosed as MS.

Episode 1 of the series is titled “The NMO Revolution: The Top 5 NMO Breakthroughs in the Past 5 Years.” Nancy Sicotte, MD, Director of the MS Program at Cedars-Sinai Medical Center, is interviewed for this episode.

A new podcast series, NMO and the Power of Rare, is now available from the Guthy-Jackson Charitable Foundation. NMO or neuromyelitis optica affects the optic nerves, spinal cord, and brainstem. It can cause blindness and/or paralysis. It is sometimes misdiagnosed as MS.

Episode 1 of the series is titled “The NMO Revolution: The Top 5 NMO Breakthroughs in the Past 5 Years.” Nancy Sicotte, MD, Director of the MS Program at Cedars-Sinai Medical Center, is interviewed for this episode.