Nathan’s Story: VCP Disease and the need for a Rare Disease Advisory Council in Georgia

Since I was a freshman at Georgia Tech, I have had a clock ticking in my head.  Since my mother presented symptoms of the VCP gene mutation, I had grown up knowing that a rare disease existed in my family and that there was a 50% chance that I might get it as an adult in my 30’s to 40’s. My mother and aunt are both deceased from the disease, and I have two uncles (four out of six siblings) that possess the VCP gene mutation that was passed down from their mother.  Symptoms include muscle wasting, Paget’s disease of bone, frontotemporal dementia, ALS and Parkinson’s.  A patient can get any combination of symptoms and the disease is fatal.  For ten years, my mother could not walk, feed herself, bathe herself or go to the bathroom by herself and my dad was her primary care partner.  I know what my future holds, and my advocacy work is for my three boys.

I jumped at every career opportunity to advance as quickly as possible.  Some might even say I was reckless.  I quit a six-figure job and moved my wife and two sons at the time to Boston to attend grad school at MIT as I knew I might not get another shot.  My oldest son lived in six states by the time he was nine and I did everything I could do to advance professionally in the event that I was “lucky” enough to have the gene mutation.

In my late 30’s, after feeling weakness in my muscles and receiving my positive gene mutation diagnosis from a researcher in California, I visited the Emory neuromuscular center to request a nuclear bone scan.  There are no treatments for my disease except for Paget’s disease of bone, if detected early enough.  During that first appointment, the doctor looked at me and said that he had never heard of my disease and that it might all be in my head.  My wife and I spent the next 45 minutes educating him about what to expect with a VCP gene mutation to not much success.  It wasn’t until I visited the Emory ALS Clinic that I found a doctor familiar with my genetic mutation.  I am his only patient with my genetic mutation. In rare diseases, access to specialty and timely medical care is crucial and can save lives and the unnecessary costs. Because there may be only a few experts in the world, many patients do not receive the care that they need.

After leading multiple businesses, I am now on full disability as we were “blessed” that I made some wise financial decisions to protect my family. I am still somewhat independent now, but my disease is progressive so I will continue to lose strength, energy, and the ability to walk. My wife and children are having to take a larger share of things l feel I should do, like mow the lawn, clean the gutters, and get things from the attic. I wish I could still do dad things like teach my boys to play basketball or take them camping. I am blessed with a wonderful family, but my rare disease is a burden to them. Rare disease affects everyone in the family. One in 10 people have a rare disease, 50% are pediatric diseases and only 5% of rare diseases have a cure. Rare disease affects many families in Georgia.

Others are not so “blessed” as I have been, and it is vital that we protect and advocate for those affected by rare disease.  My wife and I started a rare disease non-profit, Cure VCP Disease , in 2018, headquartered in Americus, Georgia, in order to help make life better for other rare disease families. We have funded research, facilitated scientific collaborations, and established a supportive patient community.

There are over 7,000 rare diseases and rare disease is complex.  I’ve learned how complex it is only because I am an affected patient.  HB 918, which advocates for the creation of a Rare Disease Advisory Council in Georgia will be one voice that can aid legislators, policy makers and the general Georgia population, in making prudent decisions to support and help rare disease patients and care partners in Georgia.  Finding a cure and treatment for rare disease is only half the battle. How will it be administered and most importantly, how will it be paid for?  Those are only a few of the important issues that the Rare Disease Advisory Council can help advise the people and representatives of Georgia.

BIO Statement on the Section 232 Pharmaceutical Proclamation

April 4, 2026
April 2, 2026- WASHINGTON, D.C. – John F. Crowley, President and CEO of the Biotechnology Innovation Organization (BIO) , released the following statement on Section 232 Pharmaceutical Proclamation. “A thriving American biotechnology ecosystem is essential to growing the U.S. economy, strengthening national security, and improving the health and well‑being of everyday Americans. While we appreciate the Administration’s recognition of the need for tariff exemptions for certain critical biotech products, the reality is that any tariffs on America’s medicines will raise costs, impede domestic manufacturing, and delay the development of new treatments - all while doing nothing to enhance our national security. “U.S. biotech companies have been eager to expand investments here at home, but tariffs, along with an uncertain policy environment and efforts to force “most‑favored nation” schemes, work directly against that goal. The risks are especially acute for small and mid‑size biotech companies, which develop more than half of all FDA‑approved medicines yet often lack the capital to build dedicated manufacturing facilities as they weather an industry defined by high costs, long development timelines, and significant risk. “The fact is: tariffs divert scarce resources away from research and development, weaken American biotech against China’s rising industry, and ultimately, harm health and economic wellbeing of Americans. “We stand ready to work with the Administration on a long‑term strategy that encourages biotechnology investment, reduces the time, cost, and uncertainty of developing new medicines, expands U.S. biomanufacturing capacity, and ensures American innovation is fairly valued overseas. Tariffs and MFN are not the answer." Source - https://www.bio.org/press-release/bio-statement-section-232-pharmaceutical-proclamation

Georgia Life Sciences Announces 2026 Georgia BioGENEius Challenge Winner

April 1, 2026
Atlanta, GA (April 1, 2026) – Georgia Life Sciences (GLS) is proud to announce that Saisurya Lakkimsetti, a junior at Lakeside High School in Columbia County, has been named the winner of the 2026 Georgia BioGENEius Challenge. The Georgia BioGENEius Challenge took place, as part of the statewide Georgia Science and Engineering Fair (GSEF) at the Classic Center in Athens, Georgia. Forty-seven students from across Georgia competed for this year’s title and cash prize. Jaehyeon Lee, an 11th-grade student from Walton High School, was named runner-up in this year’s competition. The Georgia BioGENEius Challenge recognizes outstanding high school students who are conducting innovative biotechnology research with real-world applications. This year’s top projects, presented in the Global Healthcare Challenge track, demonstrated exceptional scientific rigor and forward-thinking potential in addressing critical healthcare challenges. Saisurya’s research focuses on identifying potential inhibitors for Endocan, a protein known to play a role in glioblastoma tumor growth. Using advanced computational modeling techniques—including AlphaFold and molecular docking tools—she screened thousands of small molecules to identify compounds that may block tumor-promoting signaling pathways. Her work identified several promising candidates that could serve as a foundation for future drug development targeting glioblastoma. Jaehyeon’s project investigates how varying glucose concentrations affect regeneration in planaria, modeling impaired wound healing in diabetic conditions. By testing graded glucose environments and measuring regeneration indicators such as growth and differentiation, Jaehyeon demonstrated that lower glucose levels enhance regeneration while higher levels inhibit healing. The study establishes a model to better understand hyperglycemia’s impact on diabetic wound healing. “The work by these students is a powerful example of the innovation and determination we see in Georgia’s next generation of life sciences leaders,” said Maria Thacker Goethe, President and CEO of Georgia Life Sciences. “The BioGENEius Challenge is critical because it provides students with a platform to apply cutting-edge science to real-world problems, while also strengthening the future workforce that will drive breakthroughs in healthcare, biotechnology, and beyond.” The Georgia BioGENEius Challenge is part of Georgia Life Sciences’ broader commitment to advancing workforce development and fostering innovation across the state’s rapidly growing life sciences ecosystem. Judging the 2026 Georgia BioGENEius Challenge: Ian Biggs; Ralph Cordell, CDC; Alex Harvey, ViaMune; Jamie Graham, Smith Gambrell Russell; and Evan Scullin, LuminiSci.

Georgia Life Science's Feature in Very First Atlanta Edition of Inside Medicine

March 24, 2026
Georgia Life Sciences is thrilled to be featured in the very first Atlanta edition of Inside Medicine . This inaugural issue represents something truly special. Atlanta’s healthcare and life sciences community is driven by innovation, collaboration, and outstanding leadership—and we’re honored to be part of this exciting launch. Also in the issue, GLS's Kennedy Dumas is featured, sharing her journey on how observation and research evolved into a powerful practice of journaling. As the founder of Stationery Black, she creates notebooks designed to showcase, uplift, and inspire people of color. Read the full article here.
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