Join Us

Below we have outlined the initial steps you can take to JOINS US as we work to accelerate progress towards life-improving treatments for our loved ones, and with hope, a cure.

Step 1 – Connect with other families on our private Facebook Gemin5 Support group. This is a safe place to tell your story, find support, and share tips and resources for living with the challenges of GEMIN5 gene mutations.

Step 2 – Follow Gemin5.org’s Facebook page to get the latest research news and updates.

Step 3 – Contact Children’s Hospital of Pittsburgh’s Center for Rare Disease Therapy to learn more from the leading experts in Gemin5-related disease: www.chp.edu/rarecare and 412-692-RARE (7273), rarecare@chp.edu.

Step 4 – Complete our patient-led registry and provide critically important data to help the medical and scientific communities better understand GEMIN5 gene mutations.  This is in the works, check back soon for more details!

Step 5 – Get in touch. We are here to answer questions and connect you with other families going through similar challenges. We can also add you to our newsletter email list so you can stay up to date on the latest news and research.

Step 6 – Get involved in fundraising. Gemin5.org is a volunteer parent-led, registered non-profit charitable organization (we have applied for and are pending 501c3 tax exempt status). All donations go directly to support our mission.  There are many ways to raise money for our mission, here are some ideas: Facebook birthday campaign, sporting event, concert, golf tournament.  Check out one family’s fundraising efforts here.

Jodie Vento
Manager, Center for Rare Disease Therapy
Genetic Counseling Supervisor, Laboratory Services

Jodie Vento is the manager of the Center for Rare Disease Therapy at UPMC Children’s Hospital of Pittsburgh.  Many families who call or visit the center have a sick child for whom they may not have a diagnosis or they may have been given a diagnosis of a disease they have never heard of and been told is very rare.  Many families are confused and in need of answers. Jodie uses her genetic counseling skills to help families understand the genetic abnormality that underlies their child’s illness. She also serves as a care coordinator, arranging their appointments with the multiple specialists they will likely see when they visit the Center.  Read Jodie Vento’s full profile.

It’s very rewarding to be able to help families through their journey along the challenging road of dealing with a rare disease.  

Dr. Deepa S. Rajan, MD
Co-Director, Neuro-genetics Clinic, Children’s Hospital of Pittsburgh of UPMC Assistant Professor of Pediatrics, University of Pittsburgh School of Medicine Services

As co-director of the Neurogenetics Clinic at UPMC Children’s Hospital of Pittsburgh, Dr. Rajan sees patients who have often severe neurologic and other symptoms that have so far eluded diagnosis, as well as patients who have been diagnosed with rare neurologic conditions caused by genetic abnormalities.

Before being seen at the Neurogenetics Clinic, many children and their families have been through a “diagnostic odyssey” involving visits to multiple medical specialists, each of whom may conduct a different battery of tests to try to identify a cause for the child’s symptoms. One of the clinic’s goals is to ensure that each child receives a proper diagnosis and a care plan designed to meet his or her individual needs. Read Dr. Rajan’s full profile.

Many of my patients are undiagnosed, or they are diagnosed with diseases that we don’t yet have standard treatments for. But once we have a diagnosis, we can connect patients with treatments available anywhere in the world, and we are now able to enroll some patients in clinical trials of novel treatments that may help them.