Megan Garlapow, PhD

All articles by Megan Garlapow, PhD

• Gene therapy restores function in rare mitochondrial disorder

  A rare mitochondrial disorder related to thymidine kinase 2 deficiency (TK2d) showed promising response to gene therapy.

• AAV gene therapy advances offer hope for patients with TK2d

  AAV gene therapy is showing strong and growing potential to treat TK2d and related mitochondrial diseases by restoring key cellular functions.

• Case report: Early genetic testing guides care in newborn with TK2d

  Early genetic diagnosis of thymidine kinase 2 deficiency enables faster, clearer decisions about care, prognosis and family planning.

• Experts urge shared decisions as rare disease treatments expand

  Expanding treatments for rare metabolic diseases such as thymidine kinase 2 deficiency (TK2d) are giving patients and families more options.

• Study shows genomic testing improves rare disease diagnosis

  Whole-exome sequencing delivered a diagnosis in 90% of families for rare metabolic disorders related to TK2d.

• Early diagnosis improves outcomes in mitochondrial eye disease

  Eye symptoms such as progressive external ophthalmoparesis are often early warning signs of TK2d and should prompt evaluation.

• Gene editing approach uncovers drivers of mitochondrial disease

  A new single-cell technique showed how nuclear genes control mitochondrial DNA in conditions such as thymidine kinase 2 deficiency (TK2d).

• Study maps mitochondrial disease patterns to help improve diagnosis

  A first-of-its-kind Eastern India cohort clarified how mitochondrial diseases such as TK2d present across ages and syndromes.

• Scientists demonstrate mitochondrial transplant therapy restores cell function

  A new mitochondrial transplantation method may one day help treat thymidine kinase 2 deficiency (TK2d) and related disorders.

• European Commission approves doxecitine and doxribtimine for TK2d

  The European Commission approved doxecitine and doxribtimine (Kygevvi) as the first treatment for thymidine kinase 2 deficiency (TK2d).