The Mi Idea HaS Love (MIHL) Foundation (a non-profit organization), helps needy families afford NextGen Sequence-based Personalized Medicine (P-MED) for the Mi IDEA diseases (Mito Disease, ID, Epilepsy, and Autism).  Relevant diagnostic analysis and ensuing personalized therapy are supported by your generous financial gift.

Your donation also helps support research relevant to NextGen Sequence-based Personalized Medicine (P-MED).

 

A True Story- A family transformed

Genetic testing has provided so many children, adults, and whole families with amazing opportunities to lead healthier, better quality, lives!

As an example: S.L., a seven year old girl, was diagnosed with Autism and intractable Epilepsy. The patient’s parents sought many opinions and performed many tests in hope of controlling her daily, multiple seizures. She did not respond well to anti-epileptic medications.  A dietary therapy known as the Ketogenic Diet was tried and actually worsened her symptoms. The previous comprehensive “metabolic workup” provided few clues. Valproic acid was the only drug that provided some relief but daily seizures continued.

NextGen sequence mediated genetic testing was performed on her DNA derived from blood.  Sophisticated, computer-based, analysis of the huge data set fed a detailed clinical genetics analysis, which revealed that one of the 20 amino acids in all protein could not be metabolized correctly. SL had a mutation in the ACADSB gene.  The first clinical case of ACADSB deficiency was described in 2000; it is a new disease unknown to most clinicians.

For this girl protein was poison.  Her referring physician created a personalized protein cocktail from rare proteins low in the amino acid. The cocktail may have tasted terrible, but her seizures of years melted away. SL could still eat fruits and vegetables (low in protein) and pasta.  It is anticipated that the autism of SL, which generally derives from faulty neuronal connections, will improve with time secondary to removal of her personalized protein toxin, thereby promoting the growth of appropriate neuronal connections.  Formations of improved neuronal connections takes time.

The nuclear mitochondrial gene testing also revealed a mutation in the POLG gene which greatly increases the risk of liver toxicity from valproic acid. The liver toxicity can be lethal!  Genetic testing thus revealed that the patient was on a potentially dangerous drug! By modifying the diet, this child was weaned from valproate, preventing her from experiencing potentially fatal liver toxicity in the future.

An anti-seizure drug was initiated to provide a buffer from seizures, should a bit more than the desired protein somehow find its way into her diet.  The drug was NOT valproic acid.

Personalized diet.  Personalized drug therapy.

 NextGen sequence mediated clinical genetic analysis led to personalized therapy.  The new therapy improved the quality of life for SL and her family.

 BREAKING NEWS 10.2.13: NEXTGEN SEQUENCING CAN FIND MUTATIONS!

 A STUDY APPEARED IN THE NEW ENGLAND JOURNAL OF MEDICINE, possibly the most prestigious U.S. clinical journal:  NextGen sequence mediated exome analysis of 250 patients with a diversity of difficult clinical situations ” whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred to evaluation of a possible genetic condition.  (Funded by the National Human Genome Research Institute.)

Yang Y, Muzny DM…Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013. DOI: 10.1056/NEJMoa1306555. Oct 2. [Epub ahead of print]