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September 20, 2019September 20, 2019

Novel BCS1L Gene Variants Linked to Mitochondrial Disorders, Including GRACILE Syndrome

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Researchers have identified two novel variants of the BCS1L gene, linking one to a mitochondrial disease with progressive kidney failure in an adult, and the other to an infant with ... Read more

September 13, 2019September 13, 2019

Zogenix Acquires Modis and MT1621, Potential Oral Treatment for TK2 Deficiency

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Zogenix has acquired Modis Therapeutics and, in doing so, added to its portfolio MT1621, a potential treatment for a mitochondrial disease called TK2 deficiency. TK2 (thymidine kinase 2) is ... Read more

September 5, 2019September 5, 2019

Activities Abound for Global Mitochondrial Disease Awareness Week, Sept. 15-21

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From walks and runs, to discussions and illuminated landmarks, a myriad of activities are on tap around the world for Global Mitochondrial Disease Awareness Week, slated for Sept. 15 ... Read more

August 30, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

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Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: ... Read more

August 23, 2019August 23, 2019

mTOR Inhibitors May Benefit Some Children With Mitochondrial Diseases, Case Series Suggests

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Some children with mitochondrial diseases, such as Leigh syndrome, may benefit from using mTOR inhibitors like everolimus, an approved oral medicine for other conditions, a case series suggests. That treatment ... Read more

August 20, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more

August 8, 2019August 8, 2019

Protein’s Inability to Bind, Stabilize Mitochondrial Membrane Drives Optic Atrophy, Study Suggests

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Mutations in the OPA1 gene result in optic atrophy by disrupting the ability of a key protein to bind and stabilize the inner membrane of mitochondria, according to new ... Read more

August 2, 2019August 2, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

July 26, 2019July 26, 2019

Trial of Cholesterol Medication in Barth Syndrome Patients Opens in UK

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The Barth Syndrome Foundation (BSF) and the Barth Syndrome UK announced the start of the CARDIOMAN clinical trial evaluating whether bezafibrate, a cholesterol medicine, can treat boys and men with a rare ... Read more