Jaideep Patel, MD FACC’s Post

Rare diseases like Klippel-Feil syndrome involve the congenital fusion of neck vertebrae, limiting movement and leading to other medical issues. KFS can occur on its own or as part of a different genetic condition. Our Whole Exome/Genome Sequencing can identify the etiology and enable personalized care. Learn more: https://bit.ly/3xR3Oh3 #ThinkBG #BGreat #KlippelFeilSyndrome

INNOVATIONS ADVANCED BY M&A: Pompe disease, a rare genetic disease that causes progressive muscle deterioration, was first identified in 1932 by Dutch neurologist Dr. Johannes Pompe but it wasn’t until 2006 that the first treatment for Pompe was brought to market. Read our latest blog to learn how M&A helped make this long-anticipated breakthrough possible: https://lnkd.in/g4b4Fyag

Our article "Aberrant SWI/SNF Complex Members Are Predominant in Rare Ovarian Malignancies—Therapeutic Vulnerabilities in Treatment-Resistant Subtypes" has been selected as the Editor's Choice Articles. Well done all the co-authors🏆. https://mdpi.com/2941244 #ovariancancer #ovarianclearcellcarcinoma #SCCOHT #endometriosis #SWISNF #ARID1A #SMARCA4 #SMARCA2 #immunotherapy #kinaseinhibitors

Familial Hypercholesterolemia (FH) Awareness Day What is FH? It’s a genetic condition that causes high levels of “bad” LDL cholesterol, leading to cholesterol buildup in the arteries. This happens because the body struggles to clear cholesterol due to a genetic mutation, resulting in plaque buildup and thickened arteries (atherosclerosis). FH comes in two forms: 🔹 Heterozygous FH (HeFH) 🔹 Homozygous FH (HoFH) Without early intervention, FH can lead to premature heart attacks or strokes, even in young adults and children. Stay informed and protect your heart! #FHAwareness #HeartHealth #KnowYourRisk #CholesterolMatters #CholesterolCheck #HeartHealth #GoodVsBadCholesterol #HeartSmart #Heart #Cardiovascular #ItsAboutLife #HeartLife #HeartFailure

X-linked hypophosphatemia (XLH) is a rare genetic disease that can cause rickets and significant skeletal deformities. A study carryed out in the BTS GAITLAB at the NLAB Research Center highlights the importance of investigating the aspects related to the movement of these patients, in order to create a personalized rehabilitation program. Go to the blog post: https://lnkd.in/dUMv4Bd9 #btsbioengineering

We are working on new individual rehabilitation paths related to #Hypophosphatemia. Below there is a descriptive article published on AboutPharma https://lnkd.in/dgXnSgdr

Researchers have identified kallikrein genetic variants in about 1/3 of individuals with hypermobile Ehlers-Danlos syndrome (hEDS). This discovery does not change clinical care at the moment for hEDS patients who may have kallikrein variants, but this report provides a first critical step toward mechanistic understanding of disease pathogenesis. hEDS is the most common form of EDS, and the type most of associated with POTS and other forms of dysautonomia. Check out the article here: https://lnkd.in/eWRtua4t

Heyy Connections, An Article about Ankylosing spondylitis, Ankylosing spondylitis, also known as axial spondyloarthritis, is an inflammatory disease that, over time, can cause some of the bones in the spine, called vertebrae, to fuse. This fusing makes the spine less flexible and can result in a hunched posture. If ribs are affected, it can be difficult to breathe deeply. Ankylosing spondylitis has no known specific cause, though genetic factors seem to be involved. #snsinstitutions #designthinking #designthinkers #snscphysio #article

Want to learn about the relationship between the retina, brain, clinical outcomes, and genetic risk? Check out our commentary and the paper by Boudriot and Raabe https://lnkd.in/ej3beYuG

In a talk with Peiyuan Kang, I discuss what I wrote for a recent literature review. We really still don't understand everything about the brain and how it behaves in disease states. However, we can identify current trends in in both treatment as well as the current field of genetic diseases impacting the brain.