STANFORD, Calif. (Ivanhoe Newswire) — There are some patients with medical symptoms so rare that doctors are left baffled. Misdiagnosis with no real options for help often follow. But now, the National Institute of Health has formed an elite team of geneticists and specialists to solve these medical mysteries. So far, thirty-one new syndromes have been identified by the undiagnosed diseases network.
Brothers Carson and Chase cannot speak or walk on their own. But that doesn’t stop their bright minds from exploring the world.
“Carson and Chase have an ultra-rare mitochondrial condition called Mepan Syndrome. And, there’s only thirteen patients in the world that are known to have this condition right now,” said Danny Miller, Carson and Chase’s father.
For parents, Danny and Nicki Miller, getting that diagnosis was half the battle. The boys, born two years apart, were each identified as having cerebral palsy.
“It’s almost impossible for two brothers to come down with cerebral palsy,” continued Danny.
Danny then discovered The Undiagnosed Diseases Network. It’s a nationwide team of specialists that utilized both medical and detective know-how to crack rare health conditions. So far, one hundred thirty cases have been solved.
Jon Bernstein, MD, Stanford Center for Undiagnosed Diseases, said, “They don’t really know what it is that they’re fighting or what they’re up against. It’s like the unknown enemy so to speak.”
Carson and Chase went to Stanford for help where one of the network’s twelves clinics are located. To solve the case, the boys needed …
…“whole genome sequencing which is, you know, a complete analysis of the person’s entire genome,” explained Danny.
“Ultimately our genomes are the blueprint for our body and they do explain a lot about our health,” shared Dr. Bernstein.
While the Millers are just at the beginning of their journey, receiving a diagnosis is a huge victory.
“The Undiagnosed Diseases Program is a critical component for finding answers. So at some point we can find treatments and therapies that can actually improve their condition,” said Danny.
Dr. Bernstein said, “It is really a special effort.”
The Undiagnosed Diseases Network’s other clinic locations include Duke, Vanderbilt, and Harvard. This is a federally funded program, so all care received by patients is completely free of charge.
Contributors to this news report include: Jennifer Winter, Field Producer; Roque Correa, Editor; and Rusty Reed, Videographer.
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DISEASE DETECTIVES
REPORT #2620
BACKGROUND: Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem. There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day.
In the United States, a condition is considered “rare” if it affects fewer than 200,000 people. In the United Kingdom a disease is considered rare if it affects fewer than 50,000 citizens. 80 percent of rare diseases are genetic in origin and thus are present throughout a person’s life even if the symptoms do not immediately appear. Approximately 50 percent of the people affected by rare diseases are children. 30 percent of children with a rare disease will not live to see their 5th birthday. And, approximately 50 percent of rare diseases do not have a disease specific foundation supporting or researching their rare disease.
(Source: https://www.nzord.org.nz/helpful-information/rare-disease-facts-and-figures)
UNDIAGNOSED DISEASES NETWORK: In the United States, it has been estimated that 25 million Americans suffer from a rare disorder. Often times, these individuals go for long periods of time without a diagnosis. To aid these individuals, and to make progress in uncovering, understanding, and treating these disorders, the National Institutes of Health (NIH) established an intramural research program on undiagnosed diseases in 2008, known now as the Undiagnosed Diseases Program (UDP). Building on the success of this program in diagnosing both known and new diseases, the Common Fund’s Undiagnosed Diseases Network (UDN) aims to achieve this type of cross-disciplinary approach to disease diagnosis in academic medical centers around the United States. The NIH Common Fund’s Undiagnosed Diseases Network is promoting the use of genomic data in disease diagnosis and engaging basic researchers to elucidate the underlying disease mechanisms so that treatments may be identified. The program is also training clinicians in the use of contemporary genomic approaches to aid in disease diagnosis. The UDN was launched in 2013 and expanded in 2018.
(Source: https://commonfund.nih.gov/diseases)
CRACKING MEDICAL MYSTERIES WITH MATH: “Math is a powerful tool that allows us to understand physiology in a very precise way,” says Fadil Santosa, PhD, professor of mathematics and director of the U’s Institute for Mathematics and its Applications (IMA), “and it will continue to accelerate progress in the life sciences — the applications are limitless.” Dan Knights, PhD, assistant professor in the Department of Computer Science and Engineering, focuses on what he calls ‘hacking the microbiome’. “We look for patterns in the microbial communities in the gut that link to various diseases,” Knights explains, “and we use those patterns to help develop better therapeutics and diagnostics.” Jasmine Foo, PhD, a 2013-2015 McKnight Land Grant Assistant Professor in the U’s School of Mathematics, says, “When we understand better how tumors evolve, and how resistance to drug therapy evolves, ideally, we can design more effective combinations of therapies.” Foo is a quantitative modeler who relies heavily on probability theory, or the study of randomness, to do just that. Associate professor of mathematics Yoichiro Mori, MD, PhD, makes an important point when he says that this new era of math biology is not just a one-way street, with mathematicians giving and medicine taking. Armed with his newfound knowledge of physiology, Mori migrated into mathematical biology, digging deep into electrophysiology, the study of electrical activity in the body. Knights, Foo, and Mori are just three among the U’s veritable army of mathematicians, computational biologists, biostatisticians, and other specialists working to solve tough medical problems with math.
(Source: https://www.med.umn.edu/news-events/medical-bulletin/cracking-medical-mysteries-math)
* For More Information, Contact:
Margarita Gallardo / Media Relations Mia Brozovich Nacke / Media Relations
mjgallardo@stanford.edu / (650) 723-7897 mbnacke@stanfordchildrens.org / (650) 497-0827
