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August 2018 Newsletter

Publication date: 27 Aug 2018



Using Computers To Repurpose Existing Drugs in Treating Rare Diseases

There is a great need for finding new treatments for patients with rare diseases. However, time and effort investments for discovery of new drugs from scratch are formidible. An alternative approach that is gaining momentum, not only for orphan disease research, is the repositioning of existing drugs. This consists of finding a new use for already approved drugs that were first developed to treat a different condition. Sildenafil, more commonly known as Viagra, is the most famous example of a repurposed drug. It was first developed to treat hypertension and angina, but side effects that were observed during clinical trials led to the drug being repurposed to treat erectile dysfunction.

Drug repositioning has several advantages over traditional drug discovery-- the most important being that it can become available sooner to patients. Before any drug is approved to enter the market, clinical studies must prove its safety and efficacy. Although clinical studies would have to be run to prove the efficacy of the repurposed drug for the new condition, safety has already been demonstrated. This implies that both the cost and time to market are greatly reduced. Indeed, drug repositioning is an strategy that will likely be of great importance for the development of new therapies for rare diseases. In fact, new legislation is in the works to promote repositioning in orphan disease research treatments: the Orphan Product Extensions Now Accelerating Cures and Treatments (OPEN) Act.

Recently, a group of researchers from Louisiana State University have published a computational method that could aid in this proccess. They have developed informatic tools that are able to identify proteins associated with rare diseases that could potentially bind to existing drugs. They have identified 381 existing drugs that could potentially have an effect on 761 proteins that are associated with 980 rare diseases on Orphanet. As an example, they have found that the drug exemestane might be used to target the protein NPC2 to treat Niemann-Pick disease type C. Niemann-Pick disease is a fatal hereditary disorder characterized by the accumulation of cholesterol in the lysosomes, an specialized compartment within the cell. It is caused by alterations on proteins that participate in cholesterol transport called NPC1 or NPC2. Exemestane is currently used in the clinic to treat breast cancer.

The results of this study, which are publicly available, can hopefully encourage similar research that would help to find new treatments for other rare diseases.


Joaquin's Update

"We are calling on researchers, specialists, advocates and families of the world to help Joaquin. If you follow Rare Genomics, you know we have been working with Joaquin’s family since 2012, first to raise funds for trio whole exome sequencing, then to re-analyze his results and make a case for free trio whole genome sequencing with Illumina. Now with a diagnosis, we need your help in finding a cure.” – Romina Ortiz, VP Patient Advocacy, Rare Genomics Institute

After six intense years of fighting against an unknown disease that burst into Joaquin's life at three years of age, and performing all the necessary exams to identify the disease and failing in each of them, Joaquin was diagnosed in March of 2017 through Rare Genomics’ philanthropic program iHope with Illumina.

Joaquin has a Microdeletion of chromosome 19q13.11. Specifically, a 1.67 Mb loss of [GRCh37/hg19] chr19:35,223,021- 36,895,699, 19q13.11-19q13.12. This heterozygous de novo mutation deletes 78 genes including KMT2B. The KMT2B gene is responsible for DYT28 Dystonia, a very early onset disease that is extremely difficult to manage. Although the diagnosis is a recent medical finding, it is widely known that DBS (deep brain stimulation) can ameliorate the effects of Dystonia. However, Joaquin has had DBS treatment since 2013 with minimal improvement. He has also received an intrathecal baclofen pump and oral drugs, including trihexyphenidyl every 8 hours, and 50 mg of trazodone every 24 hours.


Despite having significant clinical support by a first-class medical team, Joaquin's disease continues to be extremely difficult to manage and his symptoms are progressing. He continues to suffer from seizures, autism, unusual eye movements, trouble feeding, immune system irregularities as well as generalized and progressive dystonia leaving him confined to a wheelchair.

If you or anyone you know can help us find a way to better treat this disease, or if you want to help in another way, please contact: If you know Spanish and want to learn more about his journey, view Joaquin’s website:

New Content on

Visit to access our new rare disease news link feature with web links to publicly available news stories on specific rare disorders or articles of general interest to rare disease communities. Also, listen to our latest podcasts on a patient's viewpoint of Huntington's Disease and a rare disease parent's perspective on Atypical Hemolytic Uremic Syndrome We have added new communities for:

Malignant Peripheral Nerve Sheath Tumors
Ideopathic Retinitus Vasculitis Aneurysm and Neuroretinitis
Atypical Hemolytic Uremic Syndrome
Infantile Neuroaxonal Dystrophy
Freeman-Sheldon Syndrome
Necrotizing Enterocolitis
GNE Myopathy
Congenital Generalized Lipodystrophy
Harboyan Syndrome
Atelosteiogenesis Type 1.

Whether you're a patient, family member, healthcare professional, researcher or simply interested in learning about rare conditions, become a community member to exchange information with others. Our services are free of charge.

What is RGTF?

Rare Genomics Task Force (RGTF) is Rare Genomics Institute's novel rare disease scientific consultation platform where you can have your questions answered by experts. We are building this platform to efficiently share biological information and data between patients and researchers to expedite the discovery process as part of our overall mission to help bring diagnoses, treatments, and cures to rare disease patients.

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There still is iHope...

Do you have a child who is undiagnosed? Is their physician recommending whole genome sequencing? At Rare Genomics, we work with families to get their children the clinical sequencing that they need. iHope is a partnership with Illumina that provides FREE trio whole genome sequencing to children who need testing. Please spread the word that iHope is still going strong and accepting applications.

To apply:
Attend a virtual rare disease conference
The Rare Fair 2018 is on September 28th. For information:

RareShare Team Spotlight

“The heart of a volunteer is never measured in size, but by the depth of the commitment to make a difference in the lives of others” – DeAnn Hollis. Even though there are 7,000 known rare diseases with over 300 million people affected, patients around the globe feel alone. Enter RareShare, a platform created to build a sense of community for those affected by rare diseases. RareShare was founded in 2008, later becoming a part of the Rare Genomics Institute. Through the years, it has operated solely through a dedicated volunteer team.

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