Genetics have increased disease control and reduction likelihoods, and this is just the beginning. The lines have been pushed through newborn screening. More than ever, genetic testing has reached new heights.
According to Dr. Beaudet, featured on Medscape, “A big change happened with newborn screening. We went from testing only for phenylketonuria (PKU) to testing now for dozens of rare disorders that are diagnosed at birth and for which there is usually important management.”
Many new treatments have surfaced, furthering diagnostic research through accessing rare, complex genetic conditions. Washington University School of Medicine, featured in GreenVille Online, has focused upon new treatments facing research discovered two decades ago. Ectodermal Dysplasia, Anhidrotic, a disease causing hair loss, loss of sweat glands and missing teeth, may face a cure.
Roles of Medical Centers
Medical centers have played a heavy hand through genetic studies and testing, and they’ve offered serious diagnostics testing to determine rare disorders within children. Many institutions have offered the following within the field:
High-profile centers, focusing upon rare disease components
NIH Clinical and Translational Science Award-winning programs
Pairing of research objectives and clinical treatments
In short, the medical world has facilitated growth within the rare disease sphere through live, clinical testing. This large step is groundbreaking—as it not only grants human trials to discover cures, but provides “think tank” campaigns to go live, and without much opposition.
The Center for Rare Disease Therapies, offered through the Keck Graduate Institute in Claremont, CA, as featured in Nord, has offered additional rare disease research—bringing the field full circle with its non-clinical roots.
The GARD Information Center
Founded in 2002, the GARD Information Center was instated through the Office of Rare Diseases Research. Together with the National Human Genome Research Institute, the organization has provided a wealth of information, alternatives and initiatives aimed towards rare and genetic diseases.
The National Center for Advancing Translational Sciences provides additional information, and it appears the program’s growth will reveal experienced and accessible cures through advanced Information Specialists. These specialists, ideally, will provide patients with innovative and acute information capable of revealing vital information.
With an increased capacity for information, and with more information available, doctors and patients will likely begin working together—more than ever. Information is always a key component within the medical industry, and it’s about to receive a significant boost. Application, of course, is a foreseeable barrier. However, and ironically, application will become easier to understand than the information “forerunner."
Diagnosis: The New Frontier
It should be noted that diagnosis is the field’s biggest finishing line. Many rare disorders, such as Cornelia de Lange syndrome (CdLS), may be further understood. While many medical tools currently exist for pre-conception alterations and post-conception disease control, diagnosis is, arguably, the best resource arriving within the field, due to the following factors:
A lead-in to pre-conception factors
Selection between different trimesters for pre-birth disease corrections
Screening for rare disorders
- Spreading public awareness
The Research Field’s Future
Both reproduction and diagnosis techniques will likely be revealed, and, as the field moves on, practices will become more mundane. Parents will likely receive genetic analysis, and complete—or partial—genome sequencing may become a modern paradigm.
Additionally, many of these processes will seemingly become pre-conception based. Rare disorders will be track-able before becoming “conceivable." Suggesting the existence of “pre-implantation genetic screenings” isn’t too far from the current scoreboard, and rare disorders may be completely circumvented through selective implantation.
As Dr. Beaudet stated, again, in his interview, “We are seeing big changes in what is now called noninvasive prenatal diagnosis, whereby one takes a blood sample from the mother.” This genome-sequencing U-turn essentially reduces dangerous procedures with provided, motherly, blood samples.
For more information on how genetic testing advancements are opening doors for rare disease research, join us at NORD's 2014 Rare Diseases & Orphan Products Breakthrough Summit taking place October 21-22, 2014 in Alexandria, VA. For more information about this event, click on the butto below!
(Image courtesy of Josh*M via Flickr Creative Commons)