Kaitlynn Ely

The drug discovery platform company, Perlara, has joined forces with Harvard Medical School and the Undiagnosed Diseases Network to launch PerlQuests for two rare neurodevelopmental disorders, Coffin-Lowry syndrome, caused by a mutation in the RPS6KA3 gene, and GNAO1 encephalopathy.

After successful outcomes were observed during the Phase 1/2 clinical trials, Nightstar Therapeutics has announced the initiation of their STAR Phase 3 registrational trial evaluating the safety and efficacy of NSR-REP1, a therapy for choroideremia patients.

Prometic Life Sciences has been granted Rare Pediatric Disease Designation by the FDA for its potential Inter-Alpha-Inhibitor-Proteins (IaIp) therapy for the treatment of necrotizing enterocolitis (NEC).

Spruce Biosciences has announced the launch of the CAH Natural History Study, an initiative to advance knowledge and awareness of congenital adrenal hyperplasia.

A $2.8 million Fast Track Small Business Innovation Research (SBIR) grant has been awarded to PhaseBio Pharmaceuticals from the National Institutes of Health (NIH) to support the clinical development of PB1046 in treating patients with pulmonary arterial hypertension (PAH).

The Manton Center for Orphan Disease Research at Boston Children’s Hospital and Alexion Pharmaceuticals aim to increase the accuracy and precision of diagnosing pediatric rare disease patients.

FDNA has launched the global Genomics Collaborative, a group of collaborative research efforts focused on using computational techniques and phenotypic data to analyze human genetics.

On Rare Disease Day 2018, Shire plc will focus on promoting prompt diagnosis of rare diseases, as it is the most important issue affecting health, longevity and well-being for patients and their families..

The National Center for Advancing Translational Sciences and the National Institutes of Health Clinical Center will honor World Rare Disease Day this year by hosting an event to celebrate patient advocacy.

Fortress Biotech and its subsidiary Aevitas Therapeutics have entered into a sponsored research agreement with Dr. Guanping Gao’s laboratory at the University of Massachusetts Medical School.

On Rare Disease Day, a tribute committee will rename a plaza in Cambridge, Massachusetts in honor honor of Henri A. Termeer, late biotechnology pioneer and former Genzyme Chief Executive Officer.

The FDA has accepted a supplemental Biologics License Application (sBLA) for Shire’s Cinryze, a therapy that treats recurring swelling attacks in hereditary angioedema (HAE), to expand the already approved indication to include children 6 years and older.

Soleno Therapeutics has completed its End-of-Phase II meeting with the FDA regarding the biopharmaceutical company’s drug, Diazoxide Choline Controlled-Release (DCCR), a therapy used to treat patients with Prader-Willi syndrome (PWS).

GenSight Biologics has published successful results in the Journal of the American Academy of Ophthalmology from their Phase I/II clinical trial and long-term follow-up of GS010, a therapy used to treat patients with Leber Hereditary Optic Neuropathy (LHON).

The American Lung Association will host two events this spring: the 2018 Greater Philadelphia LUNG FORCE Expo and a webinar for sarcoidosis patients focusing on improving health outcomes and support programs.

Arrowhead Pharmaceuticals Inc. announced that the company’s second-generation investigational medicine ARO-AAT was granted orphan drug designation by the FDA.

Multiple Phase 3 studies that evaluated the treatment of Dysport in sustained spasticity patients will be presented at the annual meeting of the Association of Academic Physiatrists.

A researcher at the Feinstein Institute for Medical Research has been awarded two grants for clinical trials on existing FDA-approved drugs that can be indicated to treat hereditary hemorrhagic telangiectasia.

On February 27, Marquette University’s College of Health Sciences will host a discussion led by Harmony 4 Hope and other rare disease advocates in honor of rare disease day.

Audentes Therapeutics has initiated the first patient dosing of VALENS, a Phase 1/2 clinical trial of a potential treatment for Crigler-Najjar syndrome called AT342.

Teva has announced the release of a generic version of Syprine (trientine hydrochloride) capsules, 250 mg, as a substitute treatment for patients with Wilson’s disease in the United States.

The International Foundation for Functional Gastrointestinal Disorders will participate in Rare Disease Day on February 28, with efforts to support patients affected by a rare digestive disease globally.

Novo Nordisk has announced that their hemophilia B treatment, Rebinyn, is now available in the United States.

A collaborative research effort between the National Institute on Aging (NIA), the National Institutes of Health (NIH), and ChromaDex has found Niagen effective in preventing neurological damage and improving cognitive and physical function in a mouse model of Alzheimer’s disease.

The Amplify Hope Study, sponsored by the Rare Genomics Institute, analyzed the effects of educating families affected by rare disease on how to effectively crowdfund to pay for necessary genetic testing.

Children’s Hospital Los Angeles (CHLA) has announced that it will be participating in a new clinical trial with the hopes of improving quality of life (QOL) outcomes for children with hypoplastic left heart syndrome (HLHS), a congenital heart defect in which the left ventricle is severely underdeveloped.

The FDA has granted Breakthrough Therapy Designation to Zogenix’s drug ZX008, a therapy intended to treat seizures associated with Dravet syndrome.

NBC News chief foreign correspondent Richard Engel's most demanding role has taken place off-camera. He and his wife, Mary Forrest, support each other in raising their 2-year old son, Henry, a patient with Rett syndrome.

PTC Therapeutics has announced that Part 1 of the FIREFISH study has shown that RG7916, a Type 1 spinal muscular atrophy (SMA) drug, to be safe and well-tolerated in infants and babies with Type 1 SMA.