Applied Medical Science

Many rare conditions are difficult to diagnose, and there can be fewer treatment options. Here are examples of Personalized Medical Research in action:

Computer scientist Matthew Might’s son Bertrand began to experience a cluster of symptoms within his first year of life, including a loss of motor control, leukodystrophy, seizures, alacrima and liver fibrosis1. Known conditions which could cause these symptoms were progressively ruled out, as Bertrand’s presentation was distinct from all of them. Bertrand and his parents each underwent whole-exome sequencing, a faster and less expensive alternative to whole-genome sequencing which focuses on only the 2% of the genome that actively codes for proteins. It was found that his parents each have a different mutation of the NGLY1 gene, and this resulted in Bertrand’s inability to produce the enzyme N-glycanase 1, causing his cells to accumulate misfolded glycoproteins2. Bertrand is the only person in the world known to have this condition, and now that its underlying causes are known, he can potentially be treated with synthetic NGLY1. This systematic process of personalized research revealed the workings of what would otherwise be an unknown, untreatable disease, and helped point the way to what can be done about it.

Two of biotech executive John Crowley’s children are afflicted with glycogen storage disease type II, also known as Pompe disease, a rare condition occurring in only 1 out of 140,000 infants3. Patients with the disease have a deficiency of the acid alpha-glucosidase enzyme, causing a buildup of glycogen that leads to progressive myopathy, heart failure and death. Until recently, the only treatment for the disease was symptomatic, focusing on its cardiac and respiratory complications. Crowley launched a biotech company to research compounds that could potentially serve as substitutes for acid alpha-glucosidase, and was eventually successful in developing the enzyme alglucosidase alfa4. In 2003, Crowley’s children began to receive the replacement enzyme, which he credits for their survival5.

Entrepreneur Martine Rothblatt’s daughter Jeni suffers from idiopathic pulmonary arterial hypertension (IPAH), which constricts the flow of blood to the lungs and can result in shortness of breath, fainting, dizziness and heart failure6. Only 1,000 new cases of IPAH are diagnosed in the US every year. At the time of Jeni’s diagnosis, the only available option was treatment with epoprostenol (Flolan), a drug that must be kept on ice and continually administered through a catheter in the neck or groin due to its short half-life7. Rothblatt founded a biotech company that would develop treprostinil, an IPAH treatment that can be delivered as an inhaled solution or via a subcutaneous pump8.

Individual physicians typically do not have the time or resources for the in-depth investigations and research programs that are necessary to develop new, personalized treatments. Personalized medical research companies like MetaMed can fulfill this need. For untreatable or unknown conditions, we do the legwork of comprehensively exploring all literature on the topic to provide a fuller picture of their disease, including conducting new research in areas where current information is lacking. With MetaMed’s personalized research, you no longer have to be limited by the conventional wisdom of what’s “untreatable”. We are here on the frontier of medical science to help you expand the boundary of what is possible.

  1. Might, Matthew. “Hunting down my son’s killer.” http://matt.might.net/articles/my-sons-killer/
  2. Need AC et al. "Clinical application of exome sequencing in undiagnosed genetic conditions". J Med Genet 49 (6): 353–61.
  3. Ausems MG, Verbiest J, Hermans MP, et al. (September 1999). "Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling". Eur. J. Hum. Genet. 7 (6): 713–6.
  4. Kishnani PS, Corzo D, Nicolino M et al. (2007). "Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease". Neurology 68 (2): 99–109.
  5. Crowley, John. "To Save the Children". Notre Dame Lawyer, Spring 2007. Accessed April 4, 2008.
  6. Genetics Home Reference (213). “Pulmonary arterial hypertension.” http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension
  7. CNN Money (2007). “An entrepreneur starts a biotech to save her daughter’s life.” http://money.cnn.com/2007/06/21/magazines/fsb/FSB100_united_therapeutics...
  8. United Therapeutics (2011). “Products.” http://www.unither.com/products