Genetics and Genomics have been increasingly incorporated into the practice of daily medicine. This has created a unique opportunity to apply precision medicine in different specialties and subspecialties. Genetics mechanisms contribute to a large percentage of renal diseases especially in childhood. With this in mind, Texas Children’s Hospital and Baylor College of Medicine initiated the Renal Genetics Clinic in February 2015, led by Dr. Mir Reza Bekheirnia.
Dr. Bekheirnia, ABMGG board certified clinical and clinical molecular geneticist, has a specific clinical interest in diagnosis and management of the diseases and anomalies of the kidney and genitourinary tract. The scope of Renal Genetics Clinic includes: cystic kidney disease, hematuria (e.g. Alport syndrome), hereditary forms of kidney stone, syndromic and familial forms of kidney and genitourinary tract malformations, nephrotic syndrome, Fabry disease and a number of other hereditary kidney diseases.
The Renal Genetics Clinic aims to provide the most accurate molecular diagnoses for the patients and their family members. Although there is not yet a cure for most of the genetic disorders, there are therapeutic measures that can be done if the right diagnosis is known. As an example, it is important to know the underlying cause of cystic kidney disease. There are more than 80 genes known to be related to cystic kidney. Several other examples of the impact of clinical genetics evaluation on management of the renal patients exist, including genetically tailored treatments for steroid-resistant nephrotic syndrome, Alport syndrome, and atypical hemolytic uremic syndrome are among such examples. In addition, involvement of other organs can be caught early and a more accurate outcome prediction and counseling can also be provided.
Clinical genetics evaluations that benefit the families include genetic testing, interpretation of the results including variants of uncertain clinical significance, patient-focused genetic counseling and therapeutic/management planning. The close relationship with the Baylor College of Medicine Diagnostic Genetics Laboratory plays a key role in the success of the Renal Genetics Clinic.
For questions or referrals to this clinic, please contact Nasim Bekheirnia (clinic manager) at firstname.lastname@example.org.