News from NORD

Vestibular (inner ear and brain) disorders affect patients physically, mentally, and emotionally, causing chronic dizziness, vertigo, imbalance, and tinnitus, as well as anxiety, depression, and social isolation. Join the Vestibular Disorders Association (VEDA) to raise awareness of these invisible conditions during Balance Awareness Week (Sept. 18-24, 2017). For information, visit the website.

Vestibular (inner ear and brain) disorders affect patients physically, mentally, and emotionally, causing chronic dizziness, vertigo, imbalance, and tinnitus, as well as anxiety, depression, and social isolation. Join the Vestibular Disorders Association (VEDA) to raise awareness of these invisible conditions during Balance Awareness Week (Sept. 18-24, 2017). For information, visit the website.

Vestibular (inner ear and brain) disorders affect patients physically, mentally, and emotionally, causing chronic dizziness, vertigo, imbalance, and tinnitus, as well as anxiety, depression, and social isolation. Join the Vestibular Disorders Association (VEDA) to raise awareness of these invisible conditions during Balance Awareness Week (Sept. 18-24, 2017). For information, visit the website.

The TESS Research Foundation has announced the recipients of its 2017 research grants. These grants fund research in citrate transport, seizure disorders, and neuronal development. “Applicants hailed from around the world and included world-class institutions and drug development start-up companies,” said Matthew Bainbridge PhD, Associate Director of clinical genomics research at Rady Children’s Hospital and TESS Research Foundation Scientific Advisory Board Member. Read about the grant recipients here.

The TESS Research Foundation has announced the recipients of its 2017 research grants. These grants fund research in citrate transport, seizure disorders, and neuronal development. “Applicants hailed from around the world and included world-class institutions and drug development start-up companies,” said Matthew Bainbridge PhD, Associate Director of clinical genomics research at Rady Children’s Hospital and TESS Research Foundation Scientific Advisory Board Member. Read about the grant recipients here.

The TESS Research Foundation has announced the recipients of its 2017 research grants. These grants fund research in citrate transport, seizure disorders, and neuronal development. “Applicants hailed from around the world and included world-class institutions and drug development start-up companies,” said Matthew Bainbridge PhD, Associate Director of clinical genomics research at Rady Children’s Hospital and TESS Research Foundation Scientific Advisory Board Member. Read about the grant recipients here.

PSC Partners Seeking a Cure, a nonprofit organization providing education, support, and research on behalf of those affected by primary sclerosing cholangitis (PSC), has recruited more than 1,000 patients for the international patient registry for those with this rare condition. The registry is designed to be a resource for researchers who are working to develop much-needed therapies for PSC since the disease currently has no effective treatment.

An unexpected result of the registry enrollment process is that some patients who tried to enroll learned, after answering a series of questions about their diagnosis and symptoms, that they do not actually have PSC. Instead, they have primary biliary cholangitis (PBC), a distinctly different disease that also affects the bile ducts.

This misdiagnosis is significant because effective treatment exists for PBC and patients who had been misdiagnosed with PSC may have been missing out on treatment that would slow the progression of their disease.

PSC Partners Seeking a Cure, a nonprofit organization providing education, support, and research on behalf of those affected by primary sclerosing cholangitis (PSC), has recruited more than 1,000 patients for the international patient registry for those with this rare condition. The registry is designed to be a resource for researchers who are working to develop much-needed therapies for PSC since the disease currently has no effective treatment.

An unexpected result of the registry enrollment process is that some patients who tried to enroll learned, after answering a series of questions about their diagnosis and symptoms, that they do not actually have PSC. Instead, they have primary biliary cholangitis (PBC), a distinctly different disease that also affects the bile ducts.

This misdiagnosis is significant because effective treatment exists for PBC and patients who had been misdiagnosed with PSC may have been missing out on treatment that would slow the progression of their disease.

PSC Partners Seeking a Cure, a nonprofit organization providing education, support, and research on behalf of those affected by primary sclerosing cholangitis (PSC), has recruited more than 1,000 patients for the international patient registry for those with this rare condition. The registry is designed to be a resource for researchers who are working to develop much-needed therapies for PSC since the disease currently has no effective treatment.

An unexpected result of the registry enrollment process is that some patients who tried to enroll learned, after answering a series of questions about their diagnosis and symptoms, that they do not actually have PSC. Instead, they have primary biliary cholangitis (PBC), a distinctly different disease that also affects the bile ducts.

This misdiagnosis is significant because effective treatment exists for PBC and patients who had been misdiagnosed with PSC may have been missing out on treatment that would slow the progression of their disease.

The first patient has been enrolled in a four-year, 120-person study of the rate of disease progression and severity in people with mutations in the USH2A gene, a mutation that causes blindness and in some cases the loss of both vision and hearing. Additional information is available here.

The first patient has been enrolled in a four-year, 120-person study of the rate of disease progression and severity in people with mutations in the USH2A gene, a mutation that causes blindness and in some cases the loss of both vision and hearing. Additional information is available here.

The first patient has been enrolled in a four-year, 120-person study of the rate of disease progression and severity in people with mutations in the USH2A gene, a mutation that causes blindness and in some cases the loss of both vision and hearing. Additional information is available here.

CurePSP (Progressive Supranuclear Palsy) will host an international research symposium at the Mission Bay Conference Center at UCSF in San Francisco on Oct. 26-27, 2017. The program will begin with a network session and reception on the evening of Oct. 26. A full day of scientific presentations and a poster session follows on Oct. 27. Leading investigators will present their latest research results in PSP, corticobasal degeneration, and related topics. Additional information is available here.

CurePSP (Progressive Supranuclear Palsy) will host an international research symposium at the Mission Bay Conference Center at UCSF in San Francisco on Oct. 26-27, 2017. The program will begin with a network session and reception on the evening of Oct. 26. A full day of scientific presentations and a poster session follows on Oct. 27. Leading investigators will present their latest research results in PSP, corticobasal degeneration, and related topics. Additional information is available here.

CurePSP (Progressive Supranuclear Palsy) will host an international research symposium at the Mission Bay Conference Center at UCSF in San Francisco on Oct. 26-27, 2017. The program will begin with a network session and reception on the evening of Oct. 26. A full day of scientific presentations and a poster session follows on Oct. 27. Leading investigators will present their latest research results in PSP, corticobasal degeneration, and related topics. Additional information is available here.

Popular late-night TV talk show host Conan O’Brien will host the 2017 “Sugar Soiree” in New York City on November 19, 2017, to be sponsored by Congenital Hyperinsulinism International. This annual event is a fundraiser for programs to benefit those living with hyperinsulinism. It will take place at The Grill and The Pool restaurants in New York City.

Popular late-night TV talk show host Conan O’Brien will host the 2017 “Sugar Soiree” in New York City on November 19, 2017, to be sponsored by Congenital Hyperinsulinism International. This annual event is a fundraiser for programs to benefit those living with hyperinsulinism. It will take place at The Grill and The Pool restaurants in New York City.

Popular late-night TV talk show host Conan O’Brien will host the 2017 “Sugar Soiree” in New York City on November 19, 2017, to be sponsored by Congenital Hyperinsulinism International. This annual event is a fundraiser for programs to benefit those living with hyperinsulinism. It will take place at The Grill and The Pool restaurants in New York City.

On Nov. 3-4, 2017, a global CMTC/OVM (cutis marmorata telangiectatica congenita) conference will take place in The Netherlands. The event will mark the 20th anniversary of the CMTC/OVM organization.

On Nov. 3-4, 2017, a global CMTC/OVM (cutis marmorata telangiectatica congenita) conference will take place in The Netherlands. The event will mark the 20th anniversary of the CMTC/OVM organization.

On Nov. 3-4, 2017, a global CMTC/OVM (cutis marmorata telangiectatica congenita) conference will take place in The Netherlands. The event will mark the 20th anniversary of the CMTC/OVM organization.

The Aplastic Anemia and MDS International Foundation presents the Regional Patient and Family Conference in Newark, NJ, on Sept. 16, 2017. Patients with aplastic anemia, myelodysplastic syndromes, or paroxysmal nocturnal hemoglobinuria (PNH), as well as family members and health care professionals, area invited.

The Aplastic Anemia and MDS International Foundation presents the Regional Patient and Family Conference in Newark, NJ, on Sept. 16, 2017. Patients with aplastic anemia, myelodysplastic syndromes, or paroxysmal nocturnal hemoglobinuria (PNH), as well as family members and health care professionals, area invited.

The Aplastic Anemia and MDS International Foundation presents the Regional Patient and Family Conference in Newark, NJ, on Sept. 16, 2017. Patients with aplastic anemia, myelodysplastic syndromes, or paroxysmal nocturnal hemoglobinuria (PNH), as well as family members and health care professionals, area invited.

Researchers at the University of Miami in Florida and University of Cyprus have each been awarded $100,000 to explore two drug repurposing projects to identify possible treatments for Alport syndrome. The funding was provided by the Alport Syndrome Foundation, Pedersen Family, and the Kidney Foundation of Canada.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss and eye abnormalities. When the Alport Syndrome Foundation was established in 2007, there was little funding or interest in researching this rare condition. In recent years, partly as a result of the foundation’s support for research and development of basic resources to assist researchers, several potential new treatments have entered the pipeline and are in development. Read more about this and the recent funding awards on the foundation’s website.

Researchers at the University of Miami in Florida and University of Cyprus have each been awarded $100,000 to explore two drug repurposing projects to identify possible treatments for Alport syndrome. The funding was provided by the Alport Syndrome Foundation, Pedersen Family, and the Kidney Foundation of Canada.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss and eye abnormalities. When the Alport Syndrome Foundation was established in 2007, there was little funding or interest in researching this rare condition. In recent years, partly as a result of the foundation’s support for research and development of basic resources to assist researchers, several potential new treatments have entered the pipeline and are in development. Read more about this and the recent funding awards on the foundation’s website.

Researchers at the University of Miami in Florida and University of Cyprus have each been awarded $100,000 to explore two drug repurposing projects to identify possible treatments for Alport syndrome. The funding was provided by the Alport Syndrome Foundation, Pedersen Family, and the Kidney Foundation of Canada.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss and eye abnormalities. When the Alport Syndrome Foundation was established in 2007, there was little funding or interest in researching this rare condition. In recent years, partly as a result of the foundation’s support for research and development of basic resources to assist researchers, several potential new treatments have entered the pipeline and are in development. Read more about this and the recent funding awards on the foundation’s website.

In a letter to the Senate and House leadership, NORD President and CEO Peter L. Saltonstall has outlined short-term fixes to stabilize the current health care markets and long-term reforms to improve health coverage for patients in the future. Mr. Saltonstall’s letter was written on behalf of the 30 million Americans who have rare diseases and those seeking to improve their lives.

On Feb. 28, 2017, NORD and several advocacy partners submitted to Congressional leadership a letter with “Principles for Health Coverage Reform.” The principles outline various provisions that NORD and its advocacy partners believe are necessary in any health care reform plan to assure adequate coverage for Americans with rare diseases.

NORD’s more recent letter, sent on Aug. 16, outlines specific short-term reforms to provide needed stability and viability to the current insurance marketplaces established by the Affordable Care Act as well as long-term proposals to improve health care in future health coverage reform legislation.

In a letter to the Senate and House leadership, NORD President and CEO Peter L. Saltonstall has outlined short-term fixes to stabilize the current health care markets and long-term reforms to improve health coverage for patients in the future. Mr. Saltonstall’s letter was written on behalf of the 30 million Americans who have rare diseases and those seeking to improve their lives.

On Feb. 28, 2017, NORD and several advocacy partners submitted to Congressional leadership a letter with “Principles for Health Coverage Reform.” The principles outline various provisions that NORD and its advocacy partners believe are necessary in any health care reform plan to assure adequate coverage for Americans with rare diseases.

NORD’s more recent letter, sent on Aug. 16, outlines specific short-term reforms to provide needed stability and viability to the current insurance marketplaces established by the Affordable Care Act as well as long-term proposals to improve health care in future health coverage reform legislation.

In a letter to the Senate and House leadership, NORD President and CEO Peter L. Saltonstall has outlined short-term fixes to stabilize the current health care markets and long-term reforms to improve health coverage for patients in the future. Mr. Saltonstall’s letter was written on behalf of the 30 million Americans who have rare diseases and those seeking to improve their lives.

On Feb. 28, 2017, NORD and several advocacy partners submitted to Congressional leadership a letter with “Principles for Health Coverage Reform.” The principles outline various provisions that NORD and its advocacy partners believe are necessary in any health care reform plan to assure adequate coverage for Americans with rare diseases.

NORD’s more recent letter, sent on Aug. 16, outlines specific short-term reforms to provide needed stability and viability to the current insurance marketplaces established by the Affordable Care Act as well as long-term proposals to improve health care in future health coverage reform legislation.