Neuroscientists at UB’s Hunter James Kelly Research Institute Show How Turning Down Synthesis of a Protein Improves Nerve, Muscle Function in Common Neuropathy
A potential new treatment strategy for patients with
Charcot-Marie-Tooth disease is on the horizon, thanks to research by
neuroscientists now at the University at Buffalo’s Hunter James Kelly
Research Institute and their colleagues in Italy and England.
And while CMT is the focus of this particular research, the work is
helping scientists at the Hunter James Kelly Research Institute enrich
their understanding of myelin disorders in general.
“What we learn in one disease, such as CMT, may inform how we think
about toxins for others, such as Krabbe’s,” said Dr. LawrenceWrabetz,
Director of the Hunter James Kelly Research Institute. “We’d like to build a foundation and answer basic questions about where and when toxicity in diseases begin.”
New York State Adding Adrenoleukodystrophy to Newborn Screening Panel
New York Governor, Governor Andrew Cuomo approved funding for Aidan’s
Law, adding Adrenoleukodystrophy (ALD) to New York’s Newborn Screening
panel. Named for Aidan Seeger (7/21/04 – 4/29/12), who suffered from the
disease, the law will make the New York the first state to mandate
screening for ALD.
ALD is an inherited metabolic disorder, which affects the nervous system and is
usually fatal if not treated before symptoms appear. This devastating
disease has an estimated incidence of 1 in 17,000 in boys. If untreated,
those affected lose all voluntary muscle function, as well as vision
and hearing, and eventually die.
“I am so
proud that the state of New York is continuing to lead the way in
screening for Leukodystrophies,” stated Jim Kelly, Co-Founder of
Hunter’s Hope. “I hope other states will follow New York’s example and
begin screening for Krabbe, ALD and more. All kids deserve the chance at
a healthy life, and it is up to us, the parents, doctors, lawmakers,
whomever, to give that to them.”