Gary Desir | |
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Born | Gary V. Desir |
Alma mater | New York University Yale University |
Known for | Discovery of Renalase |
Spouses | Deborah Dyett Desir [1] [2] |
Scientific career | |
Fields | Nephrology and molecular physiology |
Institutions | Yale University Yale School of Medicine VA Connecticut Healthcare System School of Forestry and Environmental Studies Albert Schweitzer Hospital |
Gary V. Desir is a physician, researcher and medical practitioner who was appointed as the vice provost for faculty development and diversity at Yale University in March 2020. [3] [4] [5] Desir is also the chair of the department of internal medicine at Yale School of Medicine, and was formerly the chair of the Yale Medicine Board. His areas of specialization include nephrology and molecular physiology, the latter specifically about potassium channels. [6] His notable research work includes discovery of the kidney protein renalase. [7] [8] [9]
Desir was born in Haiti [10] and has studied rhétorique from St Louis de Gonzague. He moved to the US in 1972 and in 1973 he enrolled in the bachelors program at New York University. In 1976, he graduated as a BS in biology while receiving the membership of Phi Beta Kappa. [11] In 1980, he graduated with honors from Yale University and became part of the Alpha Omega Alpha. [12] From 1980 to 1983 he trained in internal medicine. He took part in the fellowship program in nephrology. He worked for 3 years as the research fellowship at Yale University in nephrology with specialization in potassium channels (molecular physiology).
In 1988, Desir was appointed as an assistant professor at Yale School of Medicine. He became associate professor and professor in 1993 and 2003 respectively. From 1997 to 2004, he served as the section chief of nephrology at the VA Connecticut Healthcare System. He worked as the chair of internal medicine at VACHS from 2004 to 2013. [13] In 2013, he was appointed on interim basis as the chair of the department of internal medicine at Yale School of Medicine. [14] He was appointed to the permanent chair in 2015. [15] In 2016 Desir was designated as the Paul B. Beeson Professor of Internal Medicine at Yale. [16] Desir is also vice provost for faculty development and diversity. [17] [18]
Desir's most notable research activity include the discovery of the agent renalase, which is basically a renal protein. It can be classified as an enzyme as well as a hormone - such nature being decided on its site of action with the prospect of being used in dual-purpose. [19] The primary function of renalase is as an intracellular enzyme that controls and manipulates energy production at granular level. It also has the protective characteristics that it exhibits against cell injury and stress, once it secretes in the plasma. [20] [21]
Desir is also the founder of biotech firm Personal Therapeutics, that works exploring the prospects of commercializing renalase and its pathway while basing the foundations in two concepts, viz. renalase agonist and renalase antagonist. Renalase agonist primarily deals with the role of renalase in mitigating tissue injury in myocardial infarction whereas renalase antagonist is based on the concept of fighting cancer cells [22] which "highjack the renalase pathway as a survival mechanism". [23] [24] [25] During covid-19 pandemic, a correlation was claimed in a Yale researchers report between low levels of the renalase and poor outcome of clinical treatment of covid patients. [26] [27]
Desir is an active advocate of diversity, equity and inclusion [28] and a founding member of the Minority Organization for Retention & Expansion executive committee of Yale. [29] [30] Under dual teaching appointment, Desir conducts the graduate course "Sustainable Development in a Post-Disaster Context" at the School of Forestry and Environmental Studies, in collaboration with the Albert Schweitzer Hospital in Deschapelles, Haiti. [31]
Kidney dialysis is the process of removing excess water, solutes, and toxins from the blood in people whose kidneys can no longer perform these functions naturally. This is referred to as renal replacement therapy. The first successful dialysis was performed in 1943.
The collecting duct system of the kidney consists of a series of tubules and ducts that physically connect nephrons to a minor calyx or directly to the renal pelvis. The collecting duct participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and vasopressin.
Kidney disease, or renal disease, technically referred to as nephropathy, is damage to or disease of a kidney. Nephritis is an inflammatory kidney disease and has several types according to the location of the inflammation. Inflammation can be diagnosed by blood tests. Nephrosis is non-inflammatory kidney disease. Nephritis and nephrosis can give rise to nephritic syndrome and nephrotic syndrome respectively. Kidney disease usually causes a loss of kidney function to some degree and can result in kidney failure, the complete loss of kidney function. Kidney failure is known as the end-stage of kidney disease, where dialysis or a kidney transplant is the only treatment option.
Hyperkalemia is an elevated level of potassium (K+) in the blood. Normal potassium levels are between 3.5 and 5.0 mmol/L (3.5 and 5.0 mEq/L) with levels above 5.5 mmol/L defined as hyperkalemia. Typically hyperkalemia does not cause symptoms. Occasionally when severe it can cause palpitations, muscle pain, muscle weakness, or numbness. Hyperkalemia can cause an abnormal heart rhythm which can result in cardiac arrest and death.
Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the SLC12A3 gene. The SLC12A3 gene encodes the thiazide-sensitive sodium-chloride cotransporter, which can be found in the distal convoluted tubule of the kidney.
Potassium-sparing diuretics or antikaliuretics refer to drugs that cause diuresis without causing potassium loss in the urine. They are typically used as an adjunct in management of hypertension, cirrhosis, and congestive heart failure. The steroidal aldosterone antagonists can also be used for treatment of primary hyperaldosteronism. Spironolactone, a steroidal aldosterone antagonist, is also used in management of female hirsutism and acne from PCOS or other causes.
The renal outer medullary potassium channel (ROMK) is an ATP-dependent potassium channel (Kir1.1) that transports potassium out of cells. It plays an important role in potassium recycling in the thick ascending limb (TAL) and potassium secretion in the cortical collecting duct (CCD) of the nephron. In humans, ROMK is encoded by the KCNJ1 gene. Multiple transcript variants encoding different isoforms have been found for this gene.
Magnesium deficiency is an electrolyte disturbance in which there is a low level of magnesium in the body. It can result in multiple symptoms. Symptoms include tremor, poor coordination, muscle spasms, loss of appetite, personality changes, and nystagmus. Complications may include seizures or cardiac arrest such as from torsade de pointes. Those with low magnesium often have low potassium.
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. Two major types of primary pseudohypoaldosteronism are recognized.
Potassium voltage-gated channel subfamily E member 2 (KCNE2), also known as MinK-related peptide 1 (MiRP1), is a protein that in humans is encoded by the KCNE2 gene on chromosome 21. MiRP1 is a voltage-gated potassium channel accessory subunit associated with Long QT syndrome. It is ubiquitously expressed in many tissues and cell types. Because of this and its ability to regulate multiple different ion channels, KCNE2 exerts considerable influence on a number of cell types and tissues. Human KCNE2 is a member of the five-strong family of human KCNE genes. KCNE proteins contain a single membrane-spanning region, extracellular N-terminal and intracellular C-terminal. KCNE proteins have been widely studied for their roles in the heart and in genetic predisposition to inherited cardiac arrhythmias. The KCNE2 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease. More recently, roles for KCNE proteins in a variety of non-cardiac tissues have also been explored.
Potassium voltage-gated channel subfamily A member 2 also known as Kv1.2 is a protein that in humans is encoded by the KCNA2 gene.
Potassium voltage-gated channel, shaker-related subfamily, member 3, also known as KCNA3 or Kv1.3, is a protein that in humans is encoded by the KCNA3 gene.
Potassium voltage-gated channel subfamily E member 4, originally named MinK-related peptide 3 or MiRP3 when it was discovered, is a protein that in humans is encoded by the KCNE4 gene.
Anion exchange transporter is a protein that in humans is encoded by the SLC26A7 gene.
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney.
Voltage-gated potassium channel subunit beta-3 is a protein that in humans is encoded by the KCNAB3 gene. The protein encoded by this gene is a voltage-gated potassium channel beta subunit.
Stichodactyla toxin is a 35-residue basic peptide from the sea anemone Stichodactyla helianthus that blocks a number of potassium channels. Related peptides form a conserved family of protein domains known as the ShkT domain. Another well-studied toxin of the family is BgK from Bunodosoma granulifera.
Renalase, FAD-dependent amine oxidase is an enzyme that in humans is encoded by the RNLS gene. Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney.
A renal diet is a diet aimed at keeping levels of fluids, electrolytes, and minerals balanced in the body in individuals with chronic kidney disease or who are on dialysis. Dietary changes may include the restriction of fluid intake, protein, and electrolytes including sodium, phosphorus, and potassium. Calories may also be supplemented if the individual is losing weight undesirably.
Ctri9577 (α-KTx15.10) is a neurotoxin present in the venom of the Chaerilus tricostatus scorpion, which is a potent blocker of the voltage-gated potassium channel Kv1.3, and a gating modifier of Kv4.3 channels.